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.17393122C>T , CM000673.2:g.17393122C>T | GRCh38 |
| NC_000011.9:g.17414669C>T , CM000673.1:g.17414669C>T | GRCh37 |
| NC_000011.8:g.17371245C>T | NCBI36 |
| NG_008867.1:g.88781G>A | |
| NG_012446.1:g.538G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.4216G>A | ||
| ENST00000526037.6:n.550G>A | ||
| ENST00000528374.2:c.1206G>A | ||
| ENST00000529967.6:n.2954G>A | ||
| ENST00000532220.2:n.3848G>A | ||
| ENST00000642611.2:n.5948G>A | ||
| ENST00000644057.2:n.1191G>A | ||
| ENST00000645004.2:n.2114G>A | ||
| ENST00000682051.1:n.4777G>A | ||
| ENST00000682110.1:n.4830G>A | ||
| ENST00000682140.1:c.*401G>A | ENSP00000507829.1:n.*401G>A | |
| ENST00000682185.1:n.5920G>A | ||
| ENST00000682204.1:c.*2753G>A | ENSP00000507094.1:n.*2753G>A | |
| ENST00000682215.1:n.5197G>A | ||
| ENST00000682288.1:c.*3046G>A | ENSP00000507506.1:n.*3046G>A | |
| ENST00000682442.1:n.5050G>A | ||
| ENST00000682528.1:n.4907G>A | ||
| ENST00000682673.1:n.4774G>A | ||
| ENST00000682805.1:n.5235G>A | ||
| ENST00000682965.1:c.*1037G>A | ENSP00000508229.1:n.*1037G>A | |
| ENST00000683093.1:n.5810G>A | ||
| ENST00000683136.1:c.4498G>A | ENSP00000507768.1:p.Val1500Met | |
| ENST00000683153.1:n.4872G>A | ||
| ENST00000683365.1:n.4932G>A | ||
| ENST00000683377.1:n.4726G>A | ||
| ENST00000683456.1:c.*1752G>A | ENSP00000508318.1:n.*1752G>A | |
| ENST00000683522.1:n.4912G>A | ||
| ENST00000683562.1:c.*2680G>A | ENSP00000508265.1:n.*2680G>A | |
| ENST00000683693.1:n.6291G>A | ||
| ENST00000683725.1:c.*80G>A | ENSP00000507496.1:n.*80G>A | |
| ENST00000684010.1:n.4825G>A | ||
| ENST00000684014.1:n.802G>A | ||
| ENST00000684157.1:n.5815G>A | ||
| ENST00000684253.1:n.4733G>A | ||
| ENST00000684288.1:c.*2787G>A | ENSP00000507143.1:n.*2787G>A | |
| ENST00000684313.1:n.4262G>A | ||
| ENST00000684332.1:n.4903G>A | ||
| ENST00000684371.1:n.4936G>A | ||
| ENST00000684404.1:n.5858G>A | ||
| ENST00000684442.1:n.5054G>A | ||
| ENST00000684555.1:c.*2827G>A | ENSP00000507705.1:n.*2827G>A | |
| ENST00000684571.1:c.4456G>A | ENSP00000506935.1:p.Val1486Met | |
| ENST00000684593.1:c.*4320G>A | ENSP00000507005.1:n.*4320G>A | |
| ENST00000684711.1:c.*3011G>A | ENSP00000506841.1:n.*3011G>A | |
| ENST00000302539.9:c.4618G>A | ENSP00000303960.4:p.Val1540Met | |
| ENST00000389817.8:c.4615G>A MANE Select | ENSP00000374467.4:p.Val1539Met | |
| ENST00000642271.1:c.4612G>A | ENSP00000493749.1:p.Val1538Met | |
| ENST00000642579.1:c.2669G>A | ||
| ENST00000642611.1:n.5833G>A | ||
| ENST00000642902.1:c.4397G>A | ||
| ENST00000643260.1:c.4615G>A | ENSP00000494450.1:p.Val1539Met | |
| ENST00000643562.1:c.*2737G>A | ENSP00000496124.1:n.*2737G>A | |
| ENST00000643925.1:c.3192G>A | ||
| ENST00000644057.1:n.774G>A | ||
| ENST00000644484.1:c.*4001G>A | ENSP00000493558.1:n.*4001G>A | |
| ENST00000644675.1:c.*2787G>A | ENSP00000494567.1:n.*2787G>A | |
| ENST00000644757.1:c.*3203-142G>A | ENSP00000495085.1:n.*3203-142G>A | |
| ENST00000644772.1:c.4681G>A | ENSP00000494321.1:p.Val1561Met | |
| ENST00000645004.1:n.2308G>A | ||
| ENST00000645076.1:c.3710G>A | ||
| ENST00000645417.1:c.1803G>A | ||
| ENST00000645744.1:c.*4300G>A | ENSP00000494564.1:n.*4300G>A | |
| ENST00000645760.1:c.5036G>A | ||
| ENST00000645884.1:c.*1898G>A | ENSP00000495516.1:n.*1898G>A | |
| ENST00000646003.1:c.*2637G>A | ENSP00000495259.1:n.*2637G>A | |
| ENST00000646207.1:c.*3452G>A | ENSP00000495025.1:n.*3452G>A | |
| ENST00000646276.1:c.*4019G>A | ENSP00000496070.1:n.*4019G>A | |
| ENST00000646592.1:c.3921G>A | ||
| ENST00000646902.1:c.4582G>A | ENSP00000494101.1:p.Val1528Met | |
| ENST00000646993.1:c.*3053G>A | ENSP00000493720.1:n.*3053G>A | |
| ENST00000647015.1:c.4366G>A | ENSP00000495389.1:p.Val1456Met | |
| ENST00000647086.1:c.*4201G>A | ENSP00000493677.1:n.*4201G>A | |
| ENST00000647158.1:c.*2902G>A | ENSP00000495744.1:n.*2902G>A | |
| ENST00000302539.8:c.4618G>A | ENSP00000303960.4:p.Val1540Met | |
| ENST00000389817.7:c.4615G>A | ENSP00000374467.3:p.Val1539Met | |
| ENST00000525022.1:n.594G>A | ||
| ENST00000526037.5:n.375G>A | ||
| ENST00000526168.5:c.403G>A | ||
| ENST00000531642.5:c.646G>A | ||
| NM_000352.4:c.4615G>A | NP_000343.2:p.Val1539Met | |
| NM_001287174.1:c.4618G>A | NP_001274103.1:p.Val1540Met | |
| XM_011520331.1:c.4615G>A | XP_011518633.1:p.Val1539Met | |
| XM_011520333.1:c.3115G>A | XP_011518635.1:p.Val1039Met | |
| XR_930890.1:n.4577G>A | ||
| NM_001351295.1:c.4681G>A | NP_001338224.1:p.Val1561Met | |
| NM_001351296.1:c.4615G>A | NP_001338225.1:p.Val1539Met | |
| NM_001351297.1:c.4612G>A | NP_001338226.1:p.Val1538Met | |
| NR_147094.1:n.4910G>A | ||
| XM_017018197.2:c.4684G>A | XP_016873686.1:p.Val1562Met | |
| XM_017018199.1:c.4681G>A | XP_016873688.1:p.Val1561Met | |
| XM_017018202.1:c.3181G>A | XP_016873691.1:p.Val1061Met | |
| XM_017018204.1:c.2572G>A | XP_016873693.1:p.Val858Met | |
| XM_024448668.1:c.2983G>A | XP_024304436.1:p.Val995Met | |
| XR_001747945.2:n.4652G>A | ||
| XR_001747946.2:n.4583G>A | ||
| XR_002957189.1:n.6366G>A | ||
| NM_000352.6:c.4615G>A MANE Select | NP_000343.2:p.Val1539Met | |
| NM_001287174.2:c.4618G>A | NP_001274103.1:p.Val1540Met | |
| NM_001351295.2:c.4681G>A | NP_001338224.1:p.Val1561Met | |
| NM_001351296.2:c.4615G>A | NP_001338225.1:p.Val1539Met | |
| NM_001351297.2:c.4612G>A | NP_001338226.1:p.Val1538Met | |
| NR_147094.2:n.4910G>A | ||
| NM_001287174.3:c.4618G>A | NP_001274103.1:p.Val1540Met |