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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148811648A>C , CM000669.2:g.148811648A>C | GRCh38 |
| NC_000007.13:g.148508740A>C , CM000669.1:g.148508740A>C | GRCh37 |
| NC_000007.12:g.148139673A>C | NCBI36 |
| NG_032043.1:g.77702T>G , LRG_531:g.77702T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682263.1:n.3824T>G | ||
| ENST00000682317.1:c.*986T>G | ENSP00000508286.1:n.*986T>G | |
| ENST00000683292.1:c.*820T>G | ENSP00000507503.1:n.*820T>G | |
| ENST00000683293.1:n.3643T>G | ||
| ENST00000683744.1:c.*986T>G | ENSP00000506949.1:n.*986T>G | |
| ENST00000684300.1:c.*986T>G | ENSP00000508407.1:n.*986T>G | |
| ENST00000684400.1:n.2815T>G | ||
| ENST00000684436.1:n.2240T>G | ||
| ENST00000684510.1:n.2302T>G | ||
| ENST00000320356.7:c.1924T>G MANE Select | ENSP00000320147.2:p.Phe642Val | |
| ENST00000320356.6:c.1924T>G | ENSP00000320147.2:p.Phe642Val | |
| ENST00000350995.6:c.1792T>G | ENSP00000223193.2:p.Phe598Val | |
| ENST00000460911.5:c.1909T>G | ENSP00000419711.1:p.Phe637Val | |
| ENST00000469631.1:n.176T>G | ||
| ENST00000476773.5:c.1756T>G | ENSP00000419050.1:p.Phe586Val | |
| ENST00000478654.5:c.1756T>G | ENSP00000417062.1:p.Phe586Val | |
| ENST00000483967.5:c.1882T>G | ENSP00000419856.1:p.Phe628Val | |
| ENST00000492143.5:c.*1914T>G | ENSP00000417377.1:n.*1914T>G | |
| NM_001203247.1:c.1909T>G | NP_001190176.1:p.Phe637Val | |
| NM_001203248.1:c.1882T>G | NP_001190177.1:p.Phe628Val | |
| NM_001203249.1:c.1756T>G | NP_001190178.1:p.Phe586Val | |
| NM_004456.4:c.1924T>G , LRG_531t1:c.1924T>G | NP_004447.2:p.Phe642Val | |
| NM_152998.2:c.1792T>G | NP_694543.1:p.Phe598Val | |
| XM_005249962.3:c.1933T>G | XP_005250019.1:p.Phe645Val | |
| XM_005249963.3:c.1906T>G | XP_005250020.1:p.Phe636Val | |
| XM_005249964.3:c.1780T>G | XP_005250021.1:p.Phe594Val | |
| XM_011515883.1:c.1948T>G | XP_011514185.1:p.Phe650Val | |
| XM_011515884.1:c.1924T>G | XP_011514186.1:p.Phe642Val | |
| XM_011515885.1:c.1921T>G | XP_011514187.1:p.Phe641Val | |
| XM_011515886.1:c.1900T>G | XP_011514188.1:p.Phe634Val | |
| XM_011515887.1:c.1897T>G | XP_011514189.1:p.Phe633Val | |
| XM_011515888.1:c.1897T>G | XP_011514190.1:p.Phe633Val | |
| XM_011515889.1:c.1858T>G | XP_011514191.1:p.Phe620Val | |
| XM_011515890.1:c.1831T>G | XP_011514192.1:p.Phe611Val | |
| XM_011515891.1:c.1825T>G | XP_011514193.1:p.Phe609Val | |
| XM_011515892.1:c.1822T>G | XP_011514194.1:p.Phe608Val | |
| XM_011515893.1:c.1816T>G | XP_011514195.1:p.Phe606Val | |
| XM_011515894.1:c.1807T>G | XP_011514196.1:p.Phe603Val | |
| XM_011515895.1:c.1804T>G | XP_011514197.1:p.Phe602Val | |
| XM_011515896.1:c.1690T>G | XP_011514198.1:p.Phe564Val | |
| XM_011515897.1:c.1597T>G | XP_011514199.1:p.Phe533Val | |
| XM_011515898.1:c.1597T>G | XP_011514200.1:p.Phe533Val | |
| XR_928101.1:n.515+6563A>C | ||
| XR_928102.1:n.722+6563A>C | ||
| XM_005249962.4:c.1933T>G | XP_005250019.1:p.Phe645Val | |
| XM_005249963.4:c.1906T>G | XP_005250020.1:p.Phe636Val | |
| XM_005249964.4:c.1780T>G | XP_005250021.1:p.Phe594Val | |
| XM_011515883.2:c.1948T>G | XP_011514185.1:p.Phe650Val | |
| XM_011515884.2:c.1924T>G | XP_011514186.1:p.Phe642Val | |
| XM_011515885.2:c.1921T>G | XP_011514187.1:p.Phe641Val | |
| XM_011515886.2:c.1900T>G | XP_011514188.1:p.Phe634Val | |
| XM_011515887.3:c.1897T>G | XP_011514189.1:p.Phe633Val | |
| XM_011515888.2:c.1897T>G | XP_011514190.1:p.Phe633Val | |
| XM_011515889.2:c.1858T>G | XP_011514191.1:p.Phe620Val | |
| XM_011515890.2:c.1831T>G | XP_011514192.1:p.Phe611Val | |
| XM_011515891.3:c.1825T>G | XP_011514193.1:p.Phe609Val | |
| XM_011515892.2:c.1822T>G | XP_011514194.1:p.Phe608Val | |
| XM_011515893.2:c.1816T>G | XP_011514195.1:p.Phe606Val | |
| XM_011515894.2:c.1807T>G | XP_011514196.1:p.Phe603Val | |
| XM_011515895.2:c.1804T>G | XP_011514197.1:p.Phe602Val | |
| XM_011515896.2:c.1690T>G | XP_011514198.1:p.Phe564Val | |
| XM_011515897.2:c.1597T>G | XP_011514199.1:p.Phe533Val | |
| XM_011515898.2:c.1597T>G | XP_011514200.1:p.Phe533Val | |
| XM_017011817.2:c.1948T>G | XP_016867306.1:p.Phe650Val | |
| XM_017011818.1:c.1885T>G | XP_016867307.1:p.Phe629Val | |
| XM_017011819.1:c.1807T>G | XP_016867308.1:p.Phe603Val | |
| XM_017011820.2:c.1780T>G | XP_016867309.1:p.Phe594Val | |
| XM_017011821.1:c.1582T>G | XP_016867310.1:p.Phe528Val | |
| XM_024446680.1:c.1810T>G | XP_024302448.1:p.Phe604Val | |
| XR_001744581.1:n.4298T>G | ||
| XR_002956413.1:n.4954T>G | ||
| XR_002956414.1:n.5414T>G | ||
| NM_001203247.2:c.1909T>G | NP_001190176.1:p.Phe637Val | |
| NM_001203248.2:c.1882T>G | NP_001190177.1:p.Phe628Val | |
| NM_001203249.2:c.1756T>G | NP_001190178.1:p.Phe586Val | |
| NM_004456.5:c.1924T>G MANE Select | NP_004447.2:p.Phe642Val | |
| NM_152998.3:c.1792T>G | NP_694543.1:p.Phe598Val |