CAPN1

calpain 1

Summary

The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

Known Variants243 total

rsidPosition (GRCh37)AllelesClassClinVar
rs75404296411:64,950,193G/A—likely benign
rs76384054411:64,950,196G/C—likely benign
rs75038167511:64,950,224G/T—uncertain significance
rs156538550411:64,950,236C/T—uncertain significance
rs213730547711:64,950,240C/T—uncertain significance
rs76846435511:64,950,309G/A—uncertain significance
rs77872980711:64,950,312T/C—likely benign
rs74840381111:64,950,315G/A—uncertain significance
rs1788080011:64,950,331G/A—benign
rs77672812511:64,950,342G/A—uncertain significance
rs75963989511:64,950,346T/G—uncertain significance
rs76539912211:64,950,355C/T—likely benign
rs118426917311:64,950,360C/T—uncertain significance
rs20161358211:64,950,361G/C—likely benign
rs76595597911:64,950,372G/T—uncertain significance
rs1788144011:64,950,376G/C—benign
rs20131894511:64,950,393G/A—uncertain significance
rs74789982811:64,950,396C/A—uncertain significance
rs253925162411:64,950,421C/G—uncertain significance
rs194856596411:64,950,426G/A—pathogenic
rs37196495311:64,950,436C/A—likely benign
rs19955927111:64,950,441T/C—pathogenic
rs122659438311:64,950,445A/C—uncertain significance
rs54884146611:64,950,448G/C—likely benign
rs92793140211:64,950,459G/C—likely benign
rs1788032811:64,950,472A/G—benign
rs74944147611:64,950,587G/T—likely benign
rs53413524311:64,950,633G/C—uncertain significance
rs1788571811:64,950,638A/G—likely benign
rs20175177811:64,950,642G/A—uncertain significance
rs253925277611:64,950,653T/C—uncertain significance
rs74843719711:64,950,678C/T—likely benign
rs37732628811:64,950,683C/T—likely benign
rs36959792311:64,950,687G/A—likely benign
rs227730711:64,950,843A/T—benign
rs159084731011:64,950,944G/A—pathogenic
rs1758311:64,950,970C/T—benign
rs141410601311:64,950,976C/T—likely benign
rs37455372911:64,950,988C/T—likely benign
rs77429431611:64,951,014C/T—uncertain significance
rs77157599411:64,951,016C/A—uncertain significance
rs53992268311:64,951,018C/A—uncertain significance
rs37260201311:64,951,026G/A—uncertain significance
rs253925474711:64,951,047G/A—uncertain significance
rs102026736211:64,951,057T/C—likely benign
rs77034675911:64,953,375C/T—likely benign
rs1788052511:64,953,382C/T—likely benign
rs18115734711:64,953,383C/G—likely benign
rs1788125511:64,953,414C/T—benign
rs75259864411:64,953,415G/C—uncertain significance
rs125848484611:64,953,420C/G—likely benign
rs19999360011:64,953,448G/A—conflicting classifications of pathogenicity
rs20185413811:64,953,450G/A—likely benign
rs20085378511:64,953,462C/T—likely benign
rs37295217811:64,953,463G/T—uncertain significance
rs76344657411:64,953,473C/T—uncertain significance
rs194862758211:64,953,484G/A—uncertain significance
rs253926033511:64,953,485A/G—uncertain significance
rs194862818711:64,953,524G/C—uncertain significance
rs74874861311:64,953,624C/T—likely benign
rs75698675011:64,953,656C/T—likely benign
rs20158574011:64,953,665G/A—likely benign
rs139772444911:64,953,671G/T—likely benign
rs213731847811:64,953,672G/T—uncertain significance
rs77683925311:64,953,673G/A—pathogenic
rs77978787811:64,953,717G/T—likely pathogenic
rs213731871711:64,953,721G/A—pathogenic
rs253926132611:64,953,723T/C—uncertain significance
rs37160983211:64,953,725C/T—likely benign
rs77937396911:64,953,732C/T—uncertain significance
rs253926150311:64,953,758G/T—uncertain significance
rs20150996111:64,953,773G/A—likely benign
rs77681804911:64,953,778A/C—uncertain significance
rs148771874011:64,953,784G/T—uncertain significance
rs142246548611:64,953,801T/C—uncertain significance
rs18561269211:64,953,809C/T—likely benign
rs142159141511:64,953,810G/A—pathogenic
rs55622231811:64,953,821C/T—likely benign
rs76604663911:64,953,822G/A—likely benign
rs14721899311:64,953,827C/T—benign
rs77845088811:64,953,828G/A—likely benign
rs253926428011:64,954,666G/C—likely benign
rs53496086911:64,954,694C/T—benign
rs1155499311:64,954,695G/A—uncertain significance
rs19209945011:64,954,711C/A—uncertain significance
rs194864747511:64,954,721C/A—uncertain significance
rs128027584211:64,954,728T/C—likely benign
rs131001177511:64,954,731G/A—uncertain significance
rs253926457911:64,954,748C/T—likely benign
rs54360417911:64,954,757C/T—likely benign
rs78168319811:64,954,770G/C—pathogenic
rs1182813111:64,954,803G/A—benign
rs103309380111:64,955,435C/T—pathogenic
rs76376481711:64,955,440C/A—likely benign
rs36884379011:64,955,459C/T—uncertain significance
rs95643904211:64,955,460G/A—uncertain significance
rs75620599511:64,955,466G/Cmissense variantpathogenic
rs146773131511:64,955,470C/T—likely benign
rs140423995711:64,955,476G/A—pathogenic
rs20160280611:64,955,479C/T—likely benign

Showing 100 of 243 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.