UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148811639C>T , CM000669.2:g.148811639C>T | GRCh38 |
| NC_000007.13:g.148508731C>T , CM000669.1:g.148508731C>T | GRCh37 |
| NC_000007.12:g.148139664C>T | NCBI36 |
| NG_032043.1:g.77711G>A , LRG_531:g.77711G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682263.1:n.3833G>A | ||
| ENST00000682317.1:c.*995G>A | ENSP00000508286.1:n.*995G>A | |
| ENST00000683292.1:c.*829G>A | ENSP00000507503.1:n.*829G>A | |
| ENST00000683293.1:n.3652G>A | ||
| ENST00000683744.1:c.*995G>A | ENSP00000506949.1:n.*995G>A | |
| ENST00000684300.1:c.*995G>A | ENSP00000508407.1:n.*995G>A | |
| ENST00000684400.1:n.2824G>A | ||
| ENST00000684436.1:n.2249G>A | ||
| ENST00000684510.1:n.2311G>A | ||
| ENST00000320356.7:c.1933G>A MANE Select | ENSP00000320147.2:p.Glu645Lys | |
| ENST00000320356.6:c.1933G>A | ENSP00000320147.2:p.Glu645Lys | |
| ENST00000350995.6:c.1801G>A | ENSP00000223193.2:p.Glu601Lys | |
| ENST00000460911.5:c.1918G>A | ENSP00000419711.1:p.Glu640Lys | |
| ENST00000469631.1:n.185G>A | ||
| ENST00000476773.5:c.1765G>A | ENSP00000419050.1:p.Glu589Lys | |
| ENST00000478654.5:c.1765G>A | ENSP00000417062.1:p.Glu589Lys | |
| ENST00000483967.5:c.1891G>A | ENSP00000419856.1:p.Glu631Lys | |
| ENST00000492143.5:c.*1923G>A | ENSP00000417377.1:n.*1923G>A | |
| NM_001203247.1:c.1918G>A | NP_001190176.1:p.Glu640Lys | |
| NM_001203248.1:c.1891G>A | NP_001190177.1:p.Glu631Lys | |
| NM_001203249.1:c.1765G>A | NP_001190178.1:p.Glu589Lys | |
| NM_004456.4:c.1933G>A , LRG_531t1:c.1933G>A | NP_004447.2:p.Glu645Lys | |
| NM_152998.2:c.1801G>A | NP_694543.1:p.Glu601Lys | |
| XM_005249962.3:c.1942G>A | XP_005250019.1:p.Glu648Lys | |
| XM_005249963.3:c.1915G>A | XP_005250020.1:p.Glu639Lys | |
| XM_005249964.3:c.1789G>A | XP_005250021.1:p.Glu597Lys | |
| XM_011515883.1:c.1957G>A | XP_011514185.1:p.Glu653Lys | |
| XM_011515884.1:c.1933G>A | XP_011514186.1:p.Glu645Lys | |
| XM_011515885.1:c.1930G>A | XP_011514187.1:p.Glu644Lys | |
| XM_011515886.1:c.1909G>A | XP_011514188.1:p.Glu637Lys | |
| XM_011515887.1:c.1906G>A | XP_011514189.1:p.Glu636Lys | |
| XM_011515888.1:c.1906G>A | XP_011514190.1:p.Glu636Lys | |
| XM_011515889.1:c.1867G>A | XP_011514191.1:p.Glu623Lys | |
| XM_011515890.1:c.1840G>A | XP_011514192.1:p.Glu614Lys | |
| XM_011515891.1:c.1834G>A | XP_011514193.1:p.Glu612Lys | |
| XM_011515892.1:c.1831G>A | XP_011514194.1:p.Glu611Lys | |
| XM_011515893.1:c.1825G>A | XP_011514195.1:p.Glu609Lys | |
| XM_011515894.1:c.1816G>A | XP_011514196.1:p.Glu606Lys | |
| XM_011515895.1:c.1813G>A | XP_011514197.1:p.Glu605Lys | |
| XM_011515896.1:c.1699G>A | XP_011514198.1:p.Glu567Lys | |
| XM_011515897.1:c.1606G>A | XP_011514199.1:p.Glu536Lys | |
| XM_011515898.1:c.1606G>A | XP_011514200.1:p.Glu536Lys | |
| XR_928101.1:n.515+6554C>T | ||
| XR_928102.1:n.722+6554C>T | ||
| XM_005249962.4:c.1942G>A | XP_005250019.1:p.Glu648Lys | |
| XM_005249963.4:c.1915G>A | XP_005250020.1:p.Glu639Lys | |
| XM_005249964.4:c.1789G>A | XP_005250021.1:p.Glu597Lys | |
| XM_011515883.2:c.1957G>A | XP_011514185.1:p.Glu653Lys | |
| XM_011515884.2:c.1933G>A | XP_011514186.1:p.Glu645Lys | |
| XM_011515885.2:c.1930G>A | XP_011514187.1:p.Glu644Lys | |
| XM_011515886.2:c.1909G>A | XP_011514188.1:p.Glu637Lys | |
| XM_011515887.3:c.1906G>A | XP_011514189.1:p.Glu636Lys | |
| XM_011515888.2:c.1906G>A | XP_011514190.1:p.Glu636Lys | |
| XM_011515889.2:c.1867G>A | XP_011514191.1:p.Glu623Lys | |
| XM_011515890.2:c.1840G>A | XP_011514192.1:p.Glu614Lys | |
| XM_011515891.3:c.1834G>A | XP_011514193.1:p.Glu612Lys | |
| XM_011515892.2:c.1831G>A | XP_011514194.1:p.Glu611Lys | |
| XM_011515893.2:c.1825G>A | XP_011514195.1:p.Glu609Lys | |
| XM_011515894.2:c.1816G>A | XP_011514196.1:p.Glu606Lys | |
| XM_011515895.2:c.1813G>A | XP_011514197.1:p.Glu605Lys | |
| XM_011515896.2:c.1699G>A | XP_011514198.1:p.Glu567Lys | |
| XM_011515897.2:c.1606G>A | XP_011514199.1:p.Glu536Lys | |
| XM_011515898.2:c.1606G>A | XP_011514200.1:p.Glu536Lys | |
| XM_017011817.2:c.1957G>A | XP_016867306.1:p.Glu653Lys | |
| XM_017011818.1:c.1894G>A | XP_016867307.1:p.Glu632Lys | |
| XM_017011819.1:c.1816G>A | XP_016867308.1:p.Glu606Lys | |
| XM_017011820.2:c.1789G>A | XP_016867309.1:p.Glu597Lys | |
| XM_017011821.1:c.1591G>A | XP_016867310.1:p.Glu531Lys | |
| XM_024446680.1:c.1819G>A | XP_024302448.1:p.Glu607Lys | |
| XR_001744581.1:n.4307G>A | ||
| XR_002956413.1:n.4963G>A | ||
| XR_002956414.1:n.5423G>A | ||
| NM_001203247.2:c.1918G>A | NP_001190176.1:p.Glu640Lys | |
| NM_001203248.2:c.1891G>A | NP_001190177.1:p.Glu631Lys | |
| NM_001203249.2:c.1765G>A | NP_001190178.1:p.Glu589Lys | |
| NM_004456.5:c.1933G>A MANE Select | NP_004447.2:p.Glu645Lys | |
| NM_152998.3:c.1801G>A | NP_694543.1:p.Glu601Lys |