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_000011.10:g.17404568G= , CM000673.2:g.17404568G= | GRCh38 |
| NC_000011.9:g.17426115G= , CM000673.1:g.17426115G= | GRCh37 |
| NC_000011.8:g.17382691G= | NCBI36 |
| NG_008867.1:g.77335C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3070C= | ||
| ENST00000528374.2:c.80C= | ||
| ENST00000529967.6:n.1840C= | ||
| ENST00000532220.2:n.1233C= | ||
| ENST00000642611.2:n.3570C= | ||
| ENST00000645004.2:n.1000C= | ||
| ENST00000682051.1:n.3517C= | ||
| ENST00000682110.1:n.3570C= | ||
| ENST00000682140.1:c.3498C= | ENSP00000507829.1:p.Leu1166= | |
| ENST00000682185.1:n.4806C= | ||
| ENST00000682204.1:c.*1639C= | ENSP00000507094.1:n.*1639C= | |
| ENST00000682215.1:n.3567C= | ||
| ENST00000682288.1:c.*1932C= | ENSP00000507506.1:n.*1932C= | |
| ENST00000682442.1:n.3790C= | ||
| ENST00000682528.1:n.3647C= | ||
| ENST00000682673.1:n.3514C= | ||
| ENST00000682805.1:n.3567C= | ||
| ENST00000682965.1:c.3396+926C= | ENSP00000508229.1:n.3396+926C= | |
| ENST00000683093.1:n.3669C= | ||
| ENST00000683136.1:c.3498C= | ENSP00000507768.1:p.Leu1166= | |
| ENST00000683153.1:n.3726C= | ||
| ENST00000683365.1:n.3672C= | ||
| ENST00000683377.1:n.3570C= | ||
| ENST00000683456.1:c.*638C= | ENSP00000508318.1:n.*638C= | |
| ENST00000683522.1:n.3570C= | ||
| ENST00000683562.1:c.*1670C= | ENSP00000508265.1:n.*1670C= | |
| ENST00000683693.1:n.3647C= | ||
| ENST00000683725.1:c.3501C= | ENSP00000507496.1:p.Leu1167= | |
| ENST00000684010.1:n.3565C= | ||
| ENST00000684157.1:n.3570C= | ||
| ENST00000684253.1:n.3473C= | ||
| ENST00000684288.1:c.*1673C= | ENSP00000507143.1:n.*1673C= | |
| ENST00000684313.1:n.3002C= | ||
| ENST00000684332.1:n.3643C= | ||
| ENST00000684371.1:n.3676C= | ||
| ENST00000684404.1:n.3613C= | ||
| ENST00000684442.1:n.3570C= | ||
| ENST00000684555.1:c.*1713C= | ENSP00000507705.1:n.*1713C= | |
| ENST00000684571.1:c.3342C= | ENSP00000506935.1:p.Leu1114= | |
| ENST00000684593.1:c.*3206C= | ENSP00000507005.1:n.*3206C= | |
| ENST00000684711.1:c.*1897C= | ENSP00000506841.1:n.*1897C= | |
| ENST00000302539.9:c.3504C= | ENSP00000303960.4:p.Leu1168= | |
| ENST00000389817.8:c.3501C= MANE Select | ENSP00000374467.4:p.Leu1167= | |
| ENST00000642271.1:c.3498C= | ENSP00000493749.1:p.Leu1166= | |
| ENST00000642579.1:c.1585C= | ||
| ENST00000642611.1:n.3455C= | ||
| ENST00000642902.1:c.3283C= | ||
| ENST00000643260.1:c.3501C= | ENSP00000494450.1:p.Leu1167= | |
| ENST00000643562.1:c.*1477C= | ENSP00000496124.1:n.*1477C= | |
| ENST00000643925.1:c.1625C= | ||
| ENST00000644447.1:c.1857C= | ENSP00000496282.1:p.Leu619= | |
| ENST00000644484.1:c.*1756C= | ENSP00000493558.1:n.*1756C= | |
| ENST00000644675.1:c.*1673C= | ENSP00000494567.1:n.*1673C= | |
| ENST00000644757.1:c.*1786C= | ENSP00000495085.1:n.*1786C= | |
| ENST00000644772.1:c.3567C= | ENSP00000494321.1:p.Leu1189= | |
| ENST00000645004.1:n.640C= | ||
| ENST00000645076.1:c.2700C= | ||
| ENST00000645417.1:c.667C= | ||
| ENST00000645744.1:c.*1765C= | ENSP00000494564.1:n.*1765C= | |
| ENST00000645760.1:c.3776C= | ||
| ENST00000645884.1:c.*638C= | ENSP00000495516.1:n.*638C= | |
| ENST00000646003.1:c.*1457C= | ENSP00000495259.1:n.*1457C= | |
| ENST00000646207.1:c.*1968C= | ENSP00000495025.1:n.*1968C= | |
| ENST00000646276.1:c.*1774C= | ENSP00000496070.1:n.*1774C= | |
| ENST00000646592.1:c.2807C= | ||
| ENST00000646902.1:c.3498C= | ENSP00000494101.1:p.Leu1166= | |
| ENST00000646993.1:c.*1897C= | ENSP00000493720.1:n.*1897C= | |
| ENST00000647013.1:c.3507C= | ENSP00000496741.1:n.3507C= | |
| ENST00000647015.1:c.3252C= | ENSP00000495389.1:p.Leu1084= | |
| ENST00000647086.1:c.*3231C= | ENSP00000493677.1:n.*3231C= | |
| ENST00000647158.1:c.*1642C= | ENSP00000495744.1:n.*1642C= | |
| ENST00000302539.8:c.3504C= | ENSP00000303960.4:p.Leu1168= | |
| ENST00000389817.7:c.3501C= | ENSP00000374467.3:p.Leu1167= | |
| ENST00000524561.1:n.633C= | ||
| ENST00000527905.5:c.*377C= | ENSP00000431653.1:n.*377C= | |
| NM_000352.4:c.3501C= | NP_000343.2:p.Leu1167= | |
| NM_001287174.1:c.3504C= | NP_001274103.1:p.Leu1168= | |
| XM_011520331.1:c.3501C= | XP_011518633.1:p.Leu1167= | |
| XM_011520332.1:c.3504C= | XP_011518634.1:p.Leu1168= | |
| XM_011520333.1:c.2001C= | XP_011518635.1:p.Leu667= | |
| XR_930890.1:n.3567C= | ||
| XR_930892.1:n.3467C= | ||
| XR_930893.1:n.3464C= | ||
| NM_001351295.1:c.3567C= | NP_001338224.1:p.Leu1189= | |
| NM_001351296.1:c.3501C= | NP_001338225.1:p.Leu1167= | |
| NM_001351297.1:c.3498C= | NP_001338226.1:p.Leu1166= | |
| NR_147094.1:n.3650C= | ||
| XM_017018197.2:c.3570C= | XP_016873686.1:p.Leu1190= | |
| XM_017018199.1:c.3567C= | XP_016873688.1:p.Leu1189= | |
| XM_017018201.2:c.3570C= | XP_016873690.1:p.Leu1190= | |
| XM_017018202.1:c.2067C= | XP_016873691.1:p.Leu689= | |
| XM_017018204.1:c.1458C= | XP_016873693.1:p.Leu486= | |
| XM_024448668.1:c.1869C= | XP_024304436.1:p.Leu623= | |
| XR_001747945.2:n.3642C= | ||
| XR_001747946.2:n.3573C= | ||
| XR_002957189.1:n.3722C= | ||
| NM_000352.6:c.3501C= MANE Select | NP_000343.2:p.Leu1167= | |
| NM_001287174.2:c.3504C= | NP_001274103.1:p.Leu1168= | |
| NM_001351295.2:c.3567C= | NP_001338224.1:p.Leu1189= | |
| NM_001351296.2:c.3501C= | NP_001338225.1:p.Leu1167= | |
| NM_001351297.2:c.3498C= | NP_001338226.1:p.Leu1166= | |
| NR_147094.2:n.3650C= | ||
| NM_001287174.3:c.3504C= | NP_001274103.1:p.Leu1168= |