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.17404565C= , CM000673.2:g.17404565C= | GRCh38 |
| NC_000011.9:g.17426112C= , CM000673.1:g.17426112C= | GRCh37 |
| NC_000011.8:g.17382688C= | NCBI36 |
| NG_008867.1:g.77338G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3073G= | ||
| ENST00000528374.2:c.83G= | ||
| ENST00000529967.6:n.1843G= | ||
| ENST00000532220.2:n.1236G= | ||
| ENST00000642611.2:n.3573G= | ||
| ENST00000645004.2:n.1003G= | ||
| ENST00000682051.1:n.3520G= | ||
| ENST00000682110.1:n.3573G= | ||
| ENST00000682140.1:c.3501G= | ENSP00000507829.1:p.Leu1167= | |
| ENST00000682185.1:n.4809G= | ||
| ENST00000682204.1:c.*1642G= | ENSP00000507094.1:n.*1642G= | |
| ENST00000682215.1:n.3570G= | ||
| ENST00000682288.1:c.*1935G= | ENSP00000507506.1:n.*1935G= | |
| ENST00000682442.1:n.3793G= | ||
| ENST00000682528.1:n.3650G= | ||
| ENST00000682673.1:n.3517G= | ||
| ENST00000682805.1:n.3570G= | ||
| ENST00000682965.1:c.3396+929G= | ENSP00000508229.1:n.3396+929G= | |
| ENST00000683093.1:n.3672G= | ||
| ENST00000683136.1:c.3501G= | ENSP00000507768.1:p.Leu1167= | |
| ENST00000683153.1:n.3729G= | ||
| ENST00000683365.1:n.3675G= | ||
| ENST00000683377.1:n.3573G= | ||
| ENST00000683456.1:c.*641G= | ENSP00000508318.1:n.*641G= | |
| ENST00000683522.1:n.3573G= | ||
| ENST00000683562.1:c.*1673G= | ENSP00000508265.1:n.*1673G= | |
| ENST00000683693.1:n.3650G= | ||
| ENST00000683725.1:c.3504G= | ENSP00000507496.1:p.Leu1168= | |
| ENST00000684010.1:n.3568G= | ||
| ENST00000684157.1:n.3573G= | ||
| ENST00000684253.1:n.3476G= | ||
| ENST00000684288.1:c.*1676G= | ENSP00000507143.1:n.*1676G= | |
| ENST00000684313.1:n.3005G= | ||
| ENST00000684332.1:n.3646G= | ||
| ENST00000684371.1:n.3679G= | ||
| ENST00000684404.1:n.3616G= | ||
| ENST00000684442.1:n.3573G= | ||
| ENST00000684555.1:c.*1716G= | ENSP00000507705.1:n.*1716G= | |
| ENST00000684571.1:c.3345G= | ENSP00000506935.1:p.Leu1115= | |
| ENST00000684593.1:c.*3209G= | ENSP00000507005.1:n.*3209G= | |
| ENST00000684711.1:c.*1900G= | ENSP00000506841.1:n.*1900G= | |
| ENST00000302539.9:c.3507G= | ENSP00000303960.4:p.Leu1169= | |
| ENST00000389817.8:c.3504G= MANE Select | ENSP00000374467.4:p.Leu1168= | |
| ENST00000642271.1:c.3501G= | ENSP00000493749.1:p.Leu1167= | |
| ENST00000642579.1:c.1588G= | ||
| ENST00000642611.1:n.3458G= | ||
| ENST00000642902.1:c.3286G= | ||
| ENST00000643260.1:c.3504G= | ENSP00000494450.1:p.Leu1168= | |
| ENST00000643562.1:c.*1480G= | ENSP00000496124.1:n.*1480G= | |
| ENST00000643925.1:c.1628G= | ||
| ENST00000644447.1:c.1860G= | ENSP00000496282.1:p.Leu620= | |
| ENST00000644484.1:c.*1759G= | ENSP00000493558.1:n.*1759G= | |
| ENST00000644675.1:c.*1676G= | ENSP00000494567.1:n.*1676G= | |
| ENST00000644757.1:c.*1789G= | ENSP00000495085.1:n.*1789G= | |
| ENST00000644772.1:c.3570G= | ENSP00000494321.1:p.Leu1190= | |
| ENST00000645004.1:n.643G= | ||
| ENST00000645076.1:c.2703G= | ||
| ENST00000645417.1:c.670G= | ||
| ENST00000645744.1:c.*1768G= | ENSP00000494564.1:n.*1768G= | |
| ENST00000645760.1:c.3779G= | ||
| ENST00000645884.1:c.*641G= | ENSP00000495516.1:n.*641G= | |
| ENST00000646003.1:c.*1460G= | ENSP00000495259.1:n.*1460G= | |
| ENST00000646207.1:c.*1971G= | ENSP00000495025.1:n.*1971G= | |
| ENST00000646276.1:c.*1777G= | ENSP00000496070.1:n.*1777G= | |
| ENST00000646592.1:c.2810G= | ||
| ENST00000646902.1:c.3501G= | ENSP00000494101.1:p.Leu1167= | |
| ENST00000646993.1:c.*1900G= | ENSP00000493720.1:n.*1900G= | |
| ENST00000647013.1:c.3510G= | ENSP00000496741.1:n.3510G= | |
| ENST00000647015.1:c.3255G= | ENSP00000495389.1:p.Leu1085= | |
| ENST00000647086.1:c.*3234G= | ENSP00000493677.1:n.*3234G= | |
| ENST00000647158.1:c.*1645G= | ENSP00000495744.1:n.*1645G= | |
| ENST00000302539.8:c.3507G= | ENSP00000303960.4:p.Leu1169= | |
| ENST00000389817.7:c.3504G= | ENSP00000374467.3:p.Leu1168= | |
| ENST00000524561.1:n.636G= | ||
| ENST00000527905.5:c.*380G= | ENSP00000431653.1:n.*380G= | |
| NM_000352.4:c.3504G= | NP_000343.2:p.Leu1168= | |
| NM_001287174.1:c.3507G= | NP_001274103.1:p.Leu1169= | |
| XM_011520331.1:c.3504G= | XP_011518633.1:p.Leu1168= | |
| XM_011520332.1:c.3507G= | XP_011518634.1:p.Leu1169= | |
| XM_011520333.1:c.2004G= | XP_011518635.1:p.Leu668= | |
| XR_930890.1:n.3570G= | ||
| XR_930892.1:n.3470G= | ||
| XR_930893.1:n.3467G= | ||
| NM_001351295.1:c.3570G= | NP_001338224.1:p.Leu1190= | |
| NM_001351296.1:c.3504G= | NP_001338225.1:p.Leu1168= | |
| NM_001351297.1:c.3501G= | NP_001338226.1:p.Leu1167= | |
| NR_147094.1:n.3653G= | ||
| XM_017018197.2:c.3573G= | XP_016873686.1:p.Leu1191= | |
| XM_017018199.1:c.3570G= | XP_016873688.1:p.Leu1190= | |
| XM_017018201.2:c.3573G= | XP_016873690.1:p.Leu1191= | |
| XM_017018202.1:c.2070G= | XP_016873691.1:p.Leu690= | |
| XM_017018204.1:c.1461G= | XP_016873693.1:p.Leu487= | |
| XM_024448668.1:c.1872G= | XP_024304436.1:p.Leu624= | |
| XR_001747945.2:n.3645G= | ||
| XR_001747946.2:n.3576G= | ||
| XR_002957189.1:n.3725G= | ||
| NM_000352.6:c.3504G= MANE Select | NP_000343.2:p.Leu1168= | |
| NM_001287174.2:c.3507G= | NP_001274103.1:p.Leu1169= | |
| NM_001351295.2:c.3570G= | NP_001338224.1:p.Leu1190= | |
| NM_001351296.2:c.3504G= | NP_001338225.1:p.Leu1168= | |
| NM_001351297.2:c.3501G= | NP_001338226.1:p.Leu1167= | |
| NR_147094.2:n.3653G= | ||
| NM_001287174.3:c.3507G= | NP_001274103.1:p.Leu1169= |