GPT
glutamic--pyruvic transaminase
Summary
This gene encodes cytosolic alanine aminotransaminase 1 (ALT1); also known as glutamate-pyruvate transaminase 1. This enzyme catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate and, therefore, plays a key role in the intermediary metabolism of glucose and amino acids. Serum activity levels of this enzyme are routinely used as a biomarker of liver injury caused by drug toxicity, infection, alcohol, and steatosis. A related gene on chromosome 16 encodes a putative mitochondrial alanine aminotransaminase.[provided by RefSeq, Nov 2009]
Known Variants67 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs370128580 | 8:145,729,709 | C/T | — | uncertain significance |
| rs139849083 | 8:145,729,719 | C/A | — | likely benign |
| rs769950392 | 8:145,729,722 | T/A | — | uncertain significance |
| rs1063739 | 8:145,729,727 | C/G | missense variant | benign |
| rs770534529 | 8:145,729,773 | G/A | — | uncertain significance |
| rs764916788 | 8:145,729,779 | G/A | — | uncertain significance |
| rs145331563 | 8:145,729,793 | G/A | missense variant | — |
| rs747620337 | 8:145,729,797 | T/C | — | uncertain significance |
| rs776251118 | 8:145,729,800 | G/A | — | uncertain significance |
| rs533370457 | 8:145,729,845 | G/A | — | uncertain significance |
| rs751907921 | 8:145,729,998 | G/A | — | likely benign |
| rs531504907 | 8:145,730,017 | C/T | — | uncertain significance |
| rs138238489 | 8:145,730,018 | G/A | missense variant | — |
| rs763154411 | 8:145,730,029 | G/A | — | uncertain significance |
| rs116684584 | 8:145,730,055 | G/A | — | benign |
| rs373520194 | 8:145,730,086 | C/T | — | likely benign |
| rs201815297 | 8:145,730,161 | C/T | — | uncertain significance |
| rs200388860 | 8:145,730,207 | C/T | — | likely benign |
| rs112574791 | 8:145,730,221 | G/A | — | benign |
| rs143779924 | 8:145,730,228 | G/A | — | likely benign |
| rs773993974 | 8:145,730,230 | G/A | — | uncertain significance |
| rs144588980 | 8:145,730,400 | C/T | — | likely benign |
| rs200088103 | 8:145,730,416 | C/T | missense variant | — |
| rs1586772970 | 8:145,730,460 | C/T | — | likely benign |
| rs1330827081 | 8:145,730,512 | G/A | — | uncertain significance |
| rs202140398 | 8:145,730,669 | G/A | — | uncertain significance |
| rs1826738206 | 8:145,730,672 | C/T | — | uncertain significance |
| rs144520970 | 8:145,730,700 | C/T | — | likely benign |
| rs530505425 | 8:145,730,725 | G/C | — | likely benign |
| rs138709427 | 8:145,730,733 | C/T | — | benign |
| rs141187317 | 8:145,730,809 | G/T | — | likely benign |
| rs754982986 | 8:145,730,870 | C/T | — | uncertain significance |
| rs779971365 | 8:145,731,239 | C/A | — | uncertain significance |
| rs2537924875 | 8:145,731,242 | A/C | — | uncertain significance |
| rs576646311 | 8:145,731,248 | G/A | — | uncertain significance |
| rs200835664 | 8:145,731,257 | G/C | — | likely benign |
| rs150447348 | 8:145,731,287 | C/G | — | benign |
| rs2537925194 | 8:145,731,291 | T/C | — | uncertain significance |
| rs376386494 | 8:145,731,393 | G/C | — | uncertain significance |
| rs770588636 | 8:145,731,398 | C/T | — | likely benign |
| rs372885450 | 8:145,731,523 | G/A | — | likely benign |
| rs754868571 | 8:145,731,626 | G/A | — | uncertain significance |
| rs2537927862 | 8:145,731,748 | C/T | — | uncertain significance |
| rs2537927879 | 8:145,731,751 | C/A | — | uncertain significance |
| rs759223375 | 8:145,731,754 | G/A | — | uncertain significance |
| rs1437502089 | 8:145,731,755 | C/T | — | uncertain significance |
| rs374057837 | 8:145,731,760 | A/T | — | likely benign |
| rs777851951 | 8:145,731,776 | C/T | — | uncertain significance |
| rs200853809 | 8:145,731,945 | A/G | — | uncertain significance |
| rs763689807 | 8:145,731,963 | G/A | — | uncertain significance |
| rs777867324 | 8:145,732,004 | G/A | — | uncertain significance |
| rs781699796 | 8:145,732,014 | C/A | — | uncertain significance |
| rs775104723 | 8:145,732,019 | C/T | — | uncertain significance |
| rs200508853 | 8:145,732,032 | G/A | — | likely benign |
| rs762997607 | 8:145,732,037 | C/G | — | uncertain significance |
| rs750967411 | 8:145,732,047 | G/A | — | benign |
| rs141505249 | 8:145,732,114 | G/C | — | likely benign |
| rs199690645 | 8:145,732,150 | C/T | — | uncertain significance |
| rs2537930779 | 8:145,732,166 | C/A | — | uncertain significance |
| rs147998249 | 8:145,732,180 | G/C | — | likely benign |
| rs766711055 | 8:145,732,204 | C/T | — | uncertain significance |
| rs201282843 | 8:145,732,225 | C/T | — | uncertain significance |
| rs150549846 | 8:145,732,322 | T/C | — | uncertain significance |
| rs763324132 | 8:145,732,324 | C/T | — | uncertain significance |
| rs372684551 | 8:145,732,325 | G/A | — | uncertain significance |
| rs574630534 | 8:145,732,326 | G/A | — | likely benign |
| rs201082887 | 8:145,732,498 | T/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.