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.17395631A= , CM000673.2:g.17395631A= | GRCh38 |
| NC_000011.9:g.17417178A= , CM000673.1:g.17417178A= | GRCh37 |
| NC_000011.8:g.17373754A= | NCBI36 |
| NG_008867.1:g.86272T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3887T= | ||
| ENST00000528374.2:c.877T= | ||
| ENST00000529967.6:n.2625T= | ||
| ENST00000532220.2:n.3519T= | ||
| ENST00000642611.2:n.5619T= | ||
| ENST00000644057.2:n.862T= | ||
| ENST00000645004.2:n.1785T= | ||
| ENST00000682051.1:n.4448T= | ||
| ENST00000682110.1:n.4501T= | ||
| ENST00000682140.1:c.*72T= | ENSP00000507829.1:n.*72T= | |
| ENST00000682185.1:n.5591T= | ||
| ENST00000682204.1:c.*2424T= | ENSP00000507094.1:n.*2424T= | |
| ENST00000682215.1:n.4868T= | ||
| ENST00000682288.1:c.*2717T= | ENSP00000507506.1:n.*2717T= | |
| ENST00000682442.1:n.4721T= | ||
| ENST00000682528.1:n.4578T= | ||
| ENST00000682673.1:n.4445T= | ||
| ENST00000682805.1:n.4906T= | ||
| ENST00000682965.1:c.*708T= | ENSP00000508229.1:n.*708T= | |
| ENST00000683093.1:n.5585T= | ||
| ENST00000683136.1:c.4169T= | ENSP00000507768.1:p.Val1390= | |
| ENST00000683153.1:n.4543T= | ||
| ENST00000683365.1:n.4603T= | ||
| ENST00000683377.1:n.4501T= | ||
| ENST00000683456.1:c.*1423T= | ENSP00000508318.1:n.*1423T= | |
| ENST00000683522.1:n.4501T= | ||
| ENST00000683562.1:c.*2455T= | ENSP00000508265.1:n.*2455T= | |
| ENST00000683693.1:n.6066T= | ||
| ENST00000683725.1:c.4286T= | ENSP00000507496.1:p.Val1429= | |
| ENST00000684010.1:n.4496T= | ||
| ENST00000684157.1:n.5486T= | ||
| ENST00000684253.1:n.4404T= | ||
| ENST00000684288.1:c.*2458T= | ENSP00000507143.1:n.*2458T= | |
| ENST00000684313.1:n.3933T= | ||
| ENST00000684332.1:n.4574T= | ||
| ENST00000684371.1:n.4607T= | ||
| ENST00000684404.1:n.5529T= | ||
| ENST00000684442.1:n.4725T= | ||
| ENST00000684555.1:c.*2498T= | ENSP00000507705.1:n.*2498T= | |
| ENST00000684571.1:c.4127T= | ENSP00000506935.1:p.Val1376= | |
| ENST00000684593.1:c.*3991T= | ENSP00000507005.1:n.*3991T= | |
| ENST00000684711.1:c.*2682T= | ENSP00000506841.1:n.*2682T= | |
| ENST00000302539.9:c.4289T= | ENSP00000303960.4:p.Val1430= | |
| ENST00000389817.8:c.4286T= MANE Select | ENSP00000374467.4:p.Val1429= | |
| ENST00000642271.1:c.4283T= | ENSP00000493749.1:p.Val1428= | |
| ENST00000642579.1:c.2340T= | ||
| ENST00000642611.1:n.5504T= | ||
| ENST00000642902.1:c.4068T= | ||
| ENST00000643260.1:c.4286T= | ENSP00000494450.1:p.Val1429= | |
| ENST00000643562.1:c.*2408T= | ENSP00000496124.1:n.*2408T= | |
| ENST00000643925.1:c.2926T= | ||
| ENST00000644057.1:n.363T= | ||
| ENST00000644484.1:c.*3672T= | ENSP00000493558.1:n.*3672T= | |
| ENST00000644675.1:c.*2458T= | ENSP00000494567.1:n.*2458T= | |
| ENST00000644757.1:c.*3202+633T= | ENSP00000495085.1:n.*3202+633T= | |
| ENST00000644772.1:c.4352T= | ENSP00000494321.1:p.Val1451= | |
| ENST00000645004.1:n.1979T= | ||
| ENST00000645076.1:c.3485T= | ||
| ENST00000645417.1:c.1474T= | ||
| ENST00000645744.1:c.*3971T= | ENSP00000494564.1:n.*3971T= | |
| ENST00000645760.1:c.4707T= | ||
| ENST00000645884.1:c.*1569T= | ENSP00000495516.1:n.*1569T= | |
| ENST00000646003.1:c.*2308T= | ENSP00000495259.1:n.*2308T= | |
| ENST00000646207.1:c.*3123T= | ENSP00000495025.1:n.*3123T= | |
| ENST00000646276.1:c.*3690T= | ENSP00000496070.1:n.*3690T= | |
| ENST00000646592.1:c.3592T= | ||
| ENST00000646902.1:c.4253T= | ENSP00000494101.1:p.Val1418= | |
| ENST00000646993.1:c.*2828T= | ENSP00000493720.1:n.*2828T= | |
| ENST00000647013.1:c.4292T= | ENSP00000496741.1:n.4292T= | |
| ENST00000647015.1:c.4037T= | ENSP00000495389.1:p.Val1346= | |
| ENST00000647086.1:c.*3872T= | ENSP00000493677.1:n.*3872T= | |
| ENST00000647158.1:c.*2573T= | ENSP00000495744.1:n.*2573T= | |
| ENST00000302539.8:c.4289T= | ENSP00000303960.4:p.Val1430= | |
| ENST00000389817.7:c.4286T= | ENSP00000374467.3:p.Val1429= | |
| ENST00000525022.1:n.285T= | ||
| ENST00000526037.5:n.150T= | ||
| ENST00000526168.5:c.74T= | ||
| ENST00000531642.5:c.122T= | ||
| NM_000352.4:c.4286T= | NP_000343.2:p.Val1429= | |
| NM_001287174.1:c.4289T= | NP_001274103.1:p.Val1430= | |
| XM_011520331.1:c.4286T= | XP_011518633.1:p.Val1429= | |
| XM_011520332.1:c.4289T= | XP_011518634.1:p.Val1430= | |
| XM_011520333.1:c.2786T= | XP_011518635.1:p.Val929= | |
| XR_930890.1:n.4352T= | ||
| NM_001351295.1:c.4352T= | NP_001338224.1:p.Val1451= | |
| NM_001351296.1:c.4286T= | NP_001338225.1:p.Val1429= | |
| NM_001351297.1:c.4283T= | NP_001338226.1:p.Val1428= | |
| NR_147094.1:n.4581T= | ||
| XM_017018197.2:c.4355T= | XP_016873686.1:p.Val1452= | |
| XM_017018199.1:c.4352T= | XP_016873688.1:p.Val1451= | |
| XM_017018201.2:c.4355T= | XP_016873690.1:p.Val1452= | |
| XM_017018202.1:c.2852T= | XP_016873691.1:p.Val951= | |
| XM_017018204.1:c.2243T= | XP_016873693.1:p.Val748= | |
| XM_024448668.1:c.2654T= | XP_024304436.1:p.Val885= | |
| XR_001747945.2:n.4427T= | ||
| XR_001747946.2:n.4358T= | ||
| XR_002957189.1:n.6141T= | ||
| NM_000352.6:c.4286T= MANE Select | NP_000343.2:p.Val1429= | |
| NM_001287174.2:c.4289T= | NP_001274103.1:p.Val1430= | |
| NM_001351295.2:c.4352T= | NP_001338224.1:p.Val1451= | |
| NM_001351296.2:c.4286T= | NP_001338225.1:p.Val1429= | |
| NM_001351297.2:c.4283T= | NP_001338226.1:p.Val1428= | |
| NR_147094.2:n.4581T= | ||
| NM_001287174.3:c.4289T= | NP_001274103.1:p.Val1430= |