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.17393702T>A , CM000673.2:g.17393702T>A | GRCh38 |
| NC_000011.9:g.17415249T>A , CM000673.1:g.17415249T>A | GRCh37 |
| NC_000011.8:g.17371825T>A | NCBI36 |
| NG_008867.1:g.88201A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.4204A>T | ||
| ENST00000526037.6:n.538A>T | ||
| ENST00000528374.2:c.1194A>T | ||
| ENST00000529967.6:n.2942A>T | ||
| ENST00000532220.2:n.3836A>T | ||
| ENST00000642611.2:n.5936A>T | ||
| ENST00000644057.2:n.1179A>T | ||
| ENST00000645004.2:n.2102A>T | ||
| ENST00000682051.1:n.4765A>T | ||
| ENST00000682110.1:n.4818A>T | ||
| ENST00000682140.1:c.*389A>T | ENSP00000507829.1:n.*389A>T | |
| ENST00000682185.1:n.5908A>T | ||
| ENST00000682204.1:c.*2741A>T | ENSP00000507094.1:n.*2741A>T | |
| ENST00000682215.1:n.5185A>T | ||
| ENST00000682288.1:c.*3034A>T | ENSP00000507506.1:n.*3034A>T | |
| ENST00000682442.1:n.5038A>T | ||
| ENST00000682528.1:n.4895A>T | ||
| ENST00000682673.1:n.4762A>T | ||
| ENST00000682805.1:n.5223A>T | ||
| ENST00000682965.1:c.*1025A>T | ENSP00000508229.1:n.*1025A>T | |
| ENST00000683093.1:n.5798A>T | ||
| ENST00000683136.1:c.4486A>T | ENSP00000507768.1:p.Ile1496Phe | |
| ENST00000683153.1:n.4860A>T | ||
| ENST00000683365.1:n.4920A>T | ||
| ENST00000683377.1:n.4714A>T | ||
| ENST00000683456.1:c.*1740A>T | ENSP00000508318.1:n.*1740A>T | |
| ENST00000683522.1:n.4900A>T | ||
| ENST00000683562.1:c.*2668A>T | ENSP00000508265.1:n.*2668A>T | |
| ENST00000683693.1:n.6279A>T | ||
| ENST00000683725.1:c.*68A>T | ENSP00000507496.1:n.*68A>T | |
| ENST00000684010.1:n.4813A>T | ||
| ENST00000684014.1:n.790A>T | ||
| ENST00000684157.1:n.5803A>T | ||
| ENST00000684253.1:n.4721A>T | ||
| ENST00000684288.1:c.*2775A>T | ENSP00000507143.1:n.*2775A>T | |
| ENST00000684313.1:n.4250A>T | ||
| ENST00000684332.1:n.4891A>T | ||
| ENST00000684371.1:n.4924A>T | ||
| ENST00000684404.1:n.5846A>T | ||
| ENST00000684442.1:n.5042A>T | ||
| ENST00000684555.1:c.*2815A>T | ENSP00000507705.1:n.*2815A>T | |
| ENST00000684571.1:c.4444A>T | ENSP00000506935.1:p.Ile1482Phe | |
| ENST00000684593.1:c.*4308A>T | ENSP00000507005.1:n.*4308A>T | |
| ENST00000684711.1:c.*2999A>T | ENSP00000506841.1:n.*2999A>T | |
| ENST00000302539.9:c.4606A>T | ENSP00000303960.4:p.Ile1536Phe | |
| ENST00000389817.8:c.4603A>T MANE Select | ENSP00000374467.4:p.Ile1535Phe | |
| ENST00000642271.1:c.4600A>T | ENSP00000493749.1:p.Ile1534Phe | |
| ENST00000642579.1:c.2657A>T | ||
| ENST00000642611.1:n.5821A>T | ||
| ENST00000642902.1:c.4385A>T | ||
| ENST00000643260.1:c.4603A>T | ENSP00000494450.1:p.Ile1535Phe | |
| ENST00000643562.1:c.*2725A>T | ENSP00000496124.1:n.*2725A>T | |
| ENST00000643925.1:c.3185+564A>T | ||
| ENST00000644057.1:n.762A>T | ||
| ENST00000644484.1:c.*3989A>T | ENSP00000493558.1:n.*3989A>T | |
| ENST00000644675.1:c.*2775A>T | ENSP00000494567.1:n.*2775A>T | |
| ENST00000644757.1:c.*3203-722A>T | ENSP00000495085.1:n.*3203-722A>T | |
| ENST00000644772.1:c.4669A>T | ENSP00000494321.1:p.Ile1557Phe | |
| ENST00000645004.1:n.2296A>T | ||
| ENST00000645076.1:c.3698A>T | ||
| ENST00000645417.1:c.1791A>T | ||
| ENST00000645744.1:c.*4288A>T | ENSP00000494564.1:n.*4288A>T | |
| ENST00000645760.1:c.5024A>T | ||
| ENST00000645884.1:c.*1886A>T | ENSP00000495516.1:n.*1886A>T | |
| ENST00000646003.1:c.*2625A>T | ENSP00000495259.1:n.*2625A>T | |
| ENST00000646207.1:c.*3440A>T | ENSP00000495025.1:n.*3440A>T | |
| ENST00000646276.1:c.*4007A>T | ENSP00000496070.1:n.*4007A>T | |
| ENST00000646592.1:c.3909A>T | ||
| ENST00000646902.1:c.4570A>T | ENSP00000494101.1:p.Ile1524Phe | |
| ENST00000646993.1:c.*3041A>T | ENSP00000493720.1:n.*3041A>T | |
| ENST00000647015.1:c.4354A>T | ENSP00000495389.1:p.Ile1452Phe | |
| ENST00000647086.1:c.*4189A>T | ENSP00000493677.1:n.*4189A>T | |
| ENST00000647158.1:c.*2890A>T | ENSP00000495744.1:n.*2890A>T | |
| ENST00000302539.8:c.4606A>T | ENSP00000303960.4:p.Ile1536Phe | |
| ENST00000389817.7:c.4603A>T | ENSP00000374467.3:p.Ile1535Phe | |
| ENST00000525022.1:n.498A>T | ||
| ENST00000526037.5:n.363A>T | ||
| ENST00000526168.5:c.391A>T | ||
| ENST00000531642.5:c.634A>T | ||
| NM_000352.4:c.4603A>T | NP_000343.2:p.Ile1535Phe | |
| NM_001287174.1:c.4606A>T | NP_001274103.1:p.Ile1536Phe | |
| XM_011520331.1:c.4603A>T | XP_011518633.1:p.Ile1535Phe | |
| XM_011520333.1:c.3103A>T | XP_011518635.1:p.Ile1035Phe | |
| XR_930890.1:n.4565A>T | ||
| NM_001351295.1:c.4669A>T | NP_001338224.1:p.Ile1557Phe | |
| NM_001351296.1:c.4603A>T | NP_001338225.1:p.Ile1535Phe | |
| NM_001351297.1:c.4600A>T | NP_001338226.1:p.Ile1534Phe | |
| NR_147094.1:n.4898A>T | ||
| XM_017018197.2:c.4672A>T | XP_016873686.1:p.Ile1558Phe | |
| XM_017018199.1:c.4669A>T | XP_016873688.1:p.Ile1557Phe | |
| XM_017018202.1:c.3169A>T | XP_016873691.1:p.Ile1057Phe | |
| XM_017018204.1:c.2560A>T | XP_016873693.1:p.Ile854Phe | |
| XM_024448668.1:c.2971A>T | XP_024304436.1:p.Ile991Phe | |
| XR_001747945.2:n.4640A>T | ||
| XR_001747946.2:n.4571A>T | ||
| XR_002957189.1:n.6354A>T | ||
| NM_000352.6:c.4603A>T MANE Select | NP_000343.2:p.Ile1535Phe | |
| NM_001287174.2:c.4606A>T | NP_001274103.1:p.Ile1536Phe | |
| NM_001351295.2:c.4669A>T | NP_001338224.1:p.Ile1557Phe | |
| NM_001351296.2:c.4603A>T | NP_001338225.1:p.Ile1535Phe | |
| NM_001351297.2:c.4600A>T | NP_001338226.1:p.Ile1534Phe | |
| NR_147094.2:n.4898A>T | ||
| NM_001287174.3:c.4606A>T | NP_001274103.1:p.Ile1536Phe |