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.17395634G>T , CM000673.2:g.17395634G>T | GRCh38 |
| NC_000011.9:g.17417181G>T , CM000673.1:g.17417181G>T | GRCh37 |
| NC_000011.8:g.17373757G>T | NCBI36 |
| NG_008867.1:g.86269C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3884C>A | ||
| ENST00000528374.2:c.874C>A | ||
| ENST00000529967.6:n.2622C>A | ||
| ENST00000532220.2:n.3516C>A | ||
| ENST00000642611.2:n.5616C>A | ||
| ENST00000644057.2:n.859C>A | ||
| ENST00000645004.2:n.1782C>A | ||
| ENST00000682051.1:n.4445C>A | ||
| ENST00000682110.1:n.4498C>A | ||
| ENST00000682140.1:c.*69C>A | ENSP00000507829.1:n.*69C>A | |
| ENST00000682185.1:n.5588C>A | ||
| ENST00000682204.1:c.*2421C>A | ENSP00000507094.1:n.*2421C>A | |
| ENST00000682215.1:n.4865C>A | ||
| ENST00000682288.1:c.*2714C>A | ENSP00000507506.1:n.*2714C>A | |
| ENST00000682442.1:n.4718C>A | ||
| ENST00000682528.1:n.4575C>A | ||
| ENST00000682673.1:n.4442C>A | ||
| ENST00000682805.1:n.4903C>A | ||
| ENST00000682965.1:c.*705C>A | ENSP00000508229.1:n.*705C>A | |
| ENST00000683093.1:n.5582C>A | ||
| ENST00000683136.1:c.4166C>A | ENSP00000507768.1:p.Pro1389His | |
| ENST00000683153.1:n.4540C>A | ||
| ENST00000683365.1:n.4600C>A | ||
| ENST00000683377.1:n.4498C>A | ||
| ENST00000683456.1:c.*1420C>A | ENSP00000508318.1:n.*1420C>A | |
| ENST00000683522.1:n.4498C>A | ||
| ENST00000683562.1:c.*2452C>A | ENSP00000508265.1:n.*2452C>A | |
| ENST00000683693.1:n.6063C>A | ||
| ENST00000683725.1:c.4283C>A | ENSP00000507496.1:p.Pro1428His | |
| ENST00000684010.1:n.4493C>A | ||
| ENST00000684157.1:n.5483C>A | ||
| ENST00000684253.1:n.4401C>A | ||
| ENST00000684288.1:c.*2455C>A | ENSP00000507143.1:n.*2455C>A | |
| ENST00000684313.1:n.3930C>A | ||
| ENST00000684332.1:n.4571C>A | ||
| ENST00000684371.1:n.4604C>A | ||
| ENST00000684404.1:n.5526C>A | ||
| ENST00000684442.1:n.4722C>A | ||
| ENST00000684555.1:c.*2495C>A | ENSP00000507705.1:n.*2495C>A | |
| ENST00000684571.1:c.4124C>A | ENSP00000506935.1:p.Pro1375His | |
| ENST00000684593.1:c.*3988C>A | ENSP00000507005.1:n.*3988C>A | |
| ENST00000684711.1:c.*2679C>A | ENSP00000506841.1:n.*2679C>A | |
| ENST00000302539.9:c.4286C>A | ENSP00000303960.4:p.Pro1429His | |
| ENST00000389817.8:c.4283C>A MANE Select | ENSP00000374467.4:p.Pro1428His | |
| ENST00000642271.1:c.4280C>A | ENSP00000493749.1:p.Pro1427His | |
| ENST00000642579.1:c.2337C>A | ||
| ENST00000642611.1:n.5501C>A | ||
| ENST00000642902.1:c.4065C>A | ||
| ENST00000643260.1:c.4283C>A | ENSP00000494450.1:p.Pro1428His | |
| ENST00000643562.1:c.*2405C>A | ENSP00000496124.1:n.*2405C>A | |
| ENST00000643925.1:c.2923C>A | ||
| ENST00000644057.1:n.360C>A | ||
| ENST00000644484.1:c.*3669C>A | ENSP00000493558.1:n.*3669C>A | |
| ENST00000644675.1:c.*2455C>A | ENSP00000494567.1:n.*2455C>A | |
| ENST00000644757.1:c.*3202+630C>A | ENSP00000495085.1:n.*3202+630C>A | |
| ENST00000644772.1:c.4349C>A | ENSP00000494321.1:p.Pro1450His | |
| ENST00000645004.1:n.1976C>A | ||
| ENST00000645076.1:c.3482C>A | ||
| ENST00000645417.1:c.1471C>A | ||
| ENST00000645744.1:c.*3968C>A | ENSP00000494564.1:n.*3968C>A | |
| ENST00000645760.1:c.4704C>A | ||
| ENST00000645884.1:c.*1566C>A | ENSP00000495516.1:n.*1566C>A | |
| ENST00000646003.1:c.*2305C>A | ENSP00000495259.1:n.*2305C>A | |
| ENST00000646207.1:c.*3120C>A | ENSP00000495025.1:n.*3120C>A | |
| ENST00000646276.1:c.*3687C>A | ENSP00000496070.1:n.*3687C>A | |
| ENST00000646592.1:c.3589C>A | ||
| ENST00000646902.1:c.4250C>A | ENSP00000494101.1:p.Pro1417His | |
| ENST00000646993.1:c.*2825C>A | ENSP00000493720.1:n.*2825C>A | |
| ENST00000647013.1:c.4289C>A | ENSP00000496741.1:n.4289C>A | |
| ENST00000647015.1:c.4034C>A | ENSP00000495389.1:p.Pro1345His | |
| ENST00000647086.1:c.*3869C>A | ENSP00000493677.1:n.*3869C>A | |
| ENST00000647158.1:c.*2570C>A | ENSP00000495744.1:n.*2570C>A | |
| ENST00000302539.8:c.4286C>A | ENSP00000303960.4:p.Pro1429His | |
| ENST00000389817.7:c.4283C>A | ENSP00000374467.3:p.Pro1428His | |
| ENST00000525022.1:n.282C>A | ||
| ENST00000526037.5:n.147C>A | ||
| ENST00000526168.5:c.71C>A | ||
| ENST00000531642.5:c.119C>A | ||
| NM_000352.4:c.4283C>A | NP_000343.2:p.Pro1428His | |
| NM_001287174.1:c.4286C>A | NP_001274103.1:p.Pro1429His | |
| XM_011520331.1:c.4283C>A | XP_011518633.1:p.Pro1428His | |
| XM_011520332.1:c.4286C>A | XP_011518634.1:p.Pro1429His | |
| XM_011520333.1:c.2783C>A | XP_011518635.1:p.Pro928His | |
| XR_930890.1:n.4349C>A | ||
| NM_001351295.1:c.4349C>A | NP_001338224.1:p.Pro1450His | |
| NM_001351296.1:c.4283C>A | NP_001338225.1:p.Pro1428His | |
| NM_001351297.1:c.4280C>A | NP_001338226.1:p.Pro1427His | |
| NR_147094.1:n.4578C>A | ||
| XM_017018197.2:c.4352C>A | XP_016873686.1:p.Pro1451His | |
| XM_017018199.1:c.4349C>A | XP_016873688.1:p.Pro1450His | |
| XM_017018201.2:c.4352C>A | XP_016873690.1:p.Pro1451His | |
| XM_017018202.1:c.2849C>A | XP_016873691.1:p.Pro950His | |
| XM_017018204.1:c.2240C>A | XP_016873693.1:p.Pro747His | |
| XM_024448668.1:c.2651C>A | XP_024304436.1:p.Pro884His | |
| XR_001747945.2:n.4424C>A | ||
| XR_001747946.2:n.4355C>A | ||
| XR_002957189.1:n.6138C>A | ||
| NM_000352.6:c.4283C>A MANE Select | NP_000343.2:p.Pro1428His | |
| NM_001287174.2:c.4286C>A | NP_001274103.1:p.Pro1429His | |
| NM_001351295.2:c.4349C>A | NP_001338224.1:p.Pro1450His | |
| NM_001351296.2:c.4283C>A | NP_001338225.1:p.Pro1428His | |
| NM_001351297.2:c.4280C>A | NP_001338226.1:p.Pro1427His | |
| NR_147094.2:n.4578C>A | ||
| NM_001287174.3:c.4286C>A | NP_001274103.1:p.Pro1429His |