ALPL

alkaline phosphatase, biomineralization associated

Summary

This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015]

Known Variants896 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1814732811:21,833,993C/Tupstream gene variant—
rs1116014561:21,835,921G/A—uncertain significance
rs9903679291:21,835,939C/T—uncertain significance
rs168254551:21,837,755A/Gregulatory region variant—
rs1160660971:21,838,915G/Aregulatory region variant—
rs803200181:21,844,496A/Gintron variant—
rs5301437391:21,852,701C/T——
rs1493569241:21,875,506T/Cintron variant—
rs8858141:21,875,916C/Tintron variant—
rs1845869881:21,880,466T/C—likely benign
rs5282188431:21,880,494G/A—uncertain significance
rs7531105541:21,880,524C/T—uncertain significance
rs14811264651:21,880,569T/C—uncertain significance
rs15702520171:21,880,572A/C—uncertain significance
rs21481352551:21,880,575A/G—pathogenic
rs13628330431:21,880,577G/C—pathogenic
rs7494063611:21,880,583A/T—likely benign
rs7745592681:21,880,596C/G—uncertain significance
rs25452695101:21,880,598G/A—likely benign
rs7597602071:21,880,599G/T—uncertain significance
rs7726795761:21,880,600C/T—uncertain significance
rs14080449731:21,880,603T/C—likely pathogenic
rs12878636361:21,880,606G/A—uncertain significance
rs15702521641:21,880,609C/T—uncertain significance
rs1392145141:21,880,614C/T—uncertain significance
rs21481353771:21,880,615T/C—conflicting classifications of pathogenicity
rs1508497721:21,880,618C/G—likely benign
rs21481353981:21,880,619T/C—likely benign
rs14810428151:21,880,625C/G—likely benign
rs15534107281:21,880,635G/A—uncertain significance
rs7643228981:21,880,637T/Gsplice region variantpathogenic
rs21481354191:21,880,638A/G—uncertain significance
rs14908329701:21,880,642T/C—likely benign
rs16443677591:21,880,645G/A—likely benign
rs13958494771:21,880,646G/A—likely benign
rs11793647801:21,880,651C/A—likely benign
rs7542314821:21,880,654G/A—likely benign
rs7624514211:21,880,655T/A—likely benign
rs1120245001:21,880,756T/A—likely benign
rs37671551:21,885,195C/Tintron variant—
rs20714241:21,886,819C/T—benign
rs1112732761:21,887,056T/G—likely benign
rs2000540241:21,887,090G/A—likely benign
rs7610184541:21,887,099C/T—likely benign
rs16444688181:21,887,101G/A—likely benign
rs1513214491:21,887,105C/G—likely benign
rs7659847671:21,887,108T/A—likely benign
rs7512609071:21,887,109C/T—likely benign
rs11784903301:21,887,110T/G—likely benign
rs12536383771:21,887,111G/A—likely benign
rs7592067041:21,887,113G/A—likely benign
rs21481507951:21,887,118G/A—likely pathogenic
rs9122578571:21,887,126G/A—likely benign
rs3753425281:21,887,135C/T—likely benign
rs15534117791:21,887,144G/A—pathogenic
rs10575163341:21,887,145C/Gmissense variantuncertain significance
rs7571274561:21,887,148G/A—uncertain significance
rs21481509161:21,887,150C/T—likely benign
rs12091473301:21,887,151C/T—pathogenic
rs13154281921:21,887,154G/C—uncertain significance
rs1219180051:21,887,155C/Tmissense variantpathogenic
rs7724247291:21,887,156G/A—likely benign
rs7471670001:21,887,163A/C—conflicting classifications of pathogenicity
rs1999524141:21,887,164C/T—conflicting classifications of pathogenicity
rs12059713111:21,887,166C/T—conflicting classifications of pathogenicity
rs1433585061:21,887,167T/Cmissense variantpathogenic
rs7690355161:21,887,168G/A—likely benign
rs7772351221:21,887,173A/G—uncertain significance
rs7484387191:21,887,174T/C—likely benign
rs14551539451:21,887,175G/A—likely pathogenic
rs7700939691:21,887,176C/Tmissense variantpathogenic
rs11863663641:21,887,177C/T—likely benign
rs1483572031:21,887,184C/T—conflicting classifications of pathogenicity
rs10575162931:21,887,187C/Tstop gainedpathogenic
rs14208030331:21,887,192G/A—likely benign
rs21481510941:21,887,197A/T—conflicting classifications of pathogenicity
rs14308554351:21,887,200C/T—uncertain significance
rs16444719911:21,887,202A/G—conflicting classifications of pathogenicity
rs8685229531:21,887,203A/T—conflicting classifications of pathogenicity
rs5398844961:21,887,204C/T—likely benign
rs7672165541:21,887,205G/A—uncertain significance
rs21481511521:21,887,207G/A—likely benign
rs14703892681:21,887,209C/T—pathogenic
rs25452902271:21,887,219C/T—likely benign
rs9638359021:21,887,220A/G—uncertain significance
rs7602721721:21,887,223A/G—uncertain significance
rs12881122351:21,887,224T/C—uncertain significance
rs8673339181:21,887,229C/T—likely benign
rs25452902831:21,887,230T/C—likely pathogenic
rs7571767371:21,887,231G/A—likely benign
rs9251577961:21,887,233G/A—conflicting classifications of pathogenicity
rs16444728521:21,887,235G/C—conflicting classifications of pathogenicity
rs21481512801:21,887,238G/A—uncertain significance
rs12646097511:21,887,246C/T—likely benign
rs21481513041:21,887,247C/T—likely benign
rs25452903531:21,887,253C/A—likely benign
rs12430826431:21,887,256G/A—likely benign
rs17674301:21,887,290C/A—benign
rs1140763311:21,887,446T/C—benign
rs7653209681:21,887,571C/G—likely benign

Showing 100 of 896 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.