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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395626A>T , CM000673.2:g.17395626A>T | GRCh38 |
| NC_000011.9:g.17417173A>T , CM000673.1:g.17417173A>T | GRCh37 |
| NC_000011.8:g.17373749A>T | NCBI36 |
| NG_008867.1:g.86277T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3892T>A | ||
| ENST00000528374.2:c.882T>A | ||
| ENST00000529967.6:n.2630T>A | ||
| ENST00000532220.2:n.3524T>A | ||
| ENST00000642611.2:n.5624T>A | ||
| ENST00000644057.2:n.867T>A | ||
| ENST00000645004.2:n.1790T>A | ||
| ENST00000682051.1:n.4453T>A | ||
| ENST00000682110.1:n.4506T>A | ||
| ENST00000682140.1:c.*77T>A | ENSP00000507829.1:n.*77T>A | |
| ENST00000682185.1:n.5596T>A | ||
| ENST00000682204.1:c.*2429T>A | ENSP00000507094.1:n.*2429T>A | |
| ENST00000682215.1:n.4873T>A | ||
| ENST00000682288.1:c.*2722T>A | ENSP00000507506.1:n.*2722T>A | |
| ENST00000682442.1:n.4726T>A | ||
| ENST00000682528.1:n.4583T>A | ||
| ENST00000682673.1:n.4450T>A | ||
| ENST00000682805.1:n.4911T>A | ||
| ENST00000682965.1:c.*713T>A | ENSP00000508229.1:n.*713T>A | |
| ENST00000683093.1:n.5590T>A | ||
| ENST00000683136.1:c.4174T>A | ENSP00000507768.1:p.Phe1392Ile | |
| ENST00000683153.1:n.4548T>A | ||
| ENST00000683365.1:n.4608T>A | ||
| ENST00000683377.1:n.4506T>A | ||
| ENST00000683456.1:c.*1428T>A | ENSP00000508318.1:n.*1428T>A | |
| ENST00000683522.1:n.4506T>A | ||
| ENST00000683562.1:c.*2460T>A | ENSP00000508265.1:n.*2460T>A | |
| ENST00000683693.1:n.6071T>A | ||
| ENST00000683725.1:c.4291T>A | ENSP00000507496.1:p.Phe1431Ile | |
| ENST00000684010.1:n.4501T>A | ||
| ENST00000684157.1:n.5491T>A | ||
| ENST00000684253.1:n.4409T>A | ||
| ENST00000684288.1:c.*2463T>A | ENSP00000507143.1:n.*2463T>A | |
| ENST00000684313.1:n.3938T>A | ||
| ENST00000684332.1:n.4579T>A | ||
| ENST00000684371.1:n.4612T>A | ||
| ENST00000684404.1:n.5534T>A | ||
| ENST00000684442.1:n.4730T>A | ||
| ENST00000684555.1:c.*2503T>A | ENSP00000507705.1:n.*2503T>A | |
| ENST00000684571.1:c.4132T>A | ENSP00000506935.1:p.Phe1378Ile | |
| ENST00000684593.1:c.*3996T>A | ENSP00000507005.1:n.*3996T>A | |
| ENST00000684711.1:c.*2687T>A | ENSP00000506841.1:n.*2687T>A | |
| ENST00000302539.9:c.4294T>A | ENSP00000303960.4:p.Phe1432Ile | |
| ENST00000389817.8:c.4291T>A MANE Select | ENSP00000374467.4:p.Phe1431Ile | |
| ENST00000642271.1:c.4288T>A | ENSP00000493749.1:p.Phe1430Ile | |
| ENST00000642579.1:c.2345T>A | ||
| ENST00000642611.1:n.5509T>A | ||
| ENST00000642902.1:c.4073T>A | ||
| ENST00000643260.1:c.4291T>A | ENSP00000494450.1:p.Phe1431Ile | |
| ENST00000643562.1:c.*2413T>A | ENSP00000496124.1:n.*2413T>A | |
| ENST00000643925.1:c.2931T>A | ||
| ENST00000644057.1:n.368T>A | ||
| ENST00000644484.1:c.*3677T>A | ENSP00000493558.1:n.*3677T>A | |
| ENST00000644675.1:c.*2463T>A | ENSP00000494567.1:n.*2463T>A | |
| ENST00000644757.1:c.*3202+638T>A | ENSP00000495085.1:n.*3202+638T>A | |
| ENST00000644772.1:c.4357T>A | ENSP00000494321.1:p.Phe1453Ile | |
| ENST00000645004.1:n.1984T>A | ||
| ENST00000645076.1:c.3490T>A | ||
| ENST00000645417.1:c.1479T>A | ||
| ENST00000645744.1:c.*3976T>A | ENSP00000494564.1:n.*3976T>A | |
| ENST00000645760.1:c.4712T>A | ||
| ENST00000645884.1:c.*1574T>A | ENSP00000495516.1:n.*1574T>A | |
| ENST00000646003.1:c.*2313T>A | ENSP00000495259.1:n.*2313T>A | |
| ENST00000646207.1:c.*3128T>A | ENSP00000495025.1:n.*3128T>A | |
| ENST00000646276.1:c.*3695T>A | ENSP00000496070.1:n.*3695T>A | |
| ENST00000646592.1:c.3597T>A | ||
| ENST00000646902.1:c.4258T>A | ENSP00000494101.1:p.Phe1420Ile | |
| ENST00000646993.1:c.*2833T>A | ENSP00000493720.1:n.*2833T>A | |
| ENST00000647013.1:c.4297T>A | ENSP00000496741.1:n.4297T>A | |
| ENST00000647015.1:c.4042T>A | ENSP00000495389.1:p.Phe1348Ile | |
| ENST00000647086.1:c.*3877T>A | ENSP00000493677.1:n.*3877T>A | |
| ENST00000647158.1:c.*2578T>A | ENSP00000495744.1:n.*2578T>A | |
| ENST00000302539.8:c.4294T>A | ENSP00000303960.4:p.Phe1432Ile | |
| ENST00000389817.7:c.4291T>A | ENSP00000374467.3:p.Phe1431Ile | |
| ENST00000525022.1:n.290T>A | ||
| ENST00000526037.5:n.155T>A | ||
| ENST00000526168.5:c.79T>A | ||
| ENST00000531642.5:c.127T>A | ||
| NM_000352.4:c.4291T>A | NP_000343.2:p.Phe1431Ile | |
| NM_001287174.1:c.4294T>A | NP_001274103.1:p.Phe1432Ile | |
| XM_011520331.1:c.4291T>A | XP_011518633.1:p.Phe1431Ile | |
| XM_011520332.1:c.4294T>A | XP_011518634.1:p.Phe1432Ile | |
| XM_011520333.1:c.2791T>A | XP_011518635.1:p.Phe931Ile | |
| XR_930890.1:n.4357T>A | ||
| NM_001351295.1:c.4357T>A | NP_001338224.1:p.Phe1453Ile | |
| NM_001351296.1:c.4291T>A | NP_001338225.1:p.Phe1431Ile | |
| NM_001351297.1:c.4288T>A | NP_001338226.1:p.Phe1430Ile | |
| NR_147094.1:n.4586T>A | ||
| XM_017018197.2:c.4360T>A | XP_016873686.1:p.Phe1454Ile | |
| XM_017018199.1:c.4357T>A | XP_016873688.1:p.Phe1453Ile | |
| XM_017018201.2:c.4360T>A | XP_016873690.1:p.Phe1454Ile | |
| XM_017018202.1:c.2857T>A | XP_016873691.1:p.Phe953Ile | |
| XM_017018204.1:c.2248T>A | XP_016873693.1:p.Phe750Ile | |
| XM_024448668.1:c.2659T>A | XP_024304436.1:p.Phe887Ile | |
| XR_001747945.2:n.4432T>A | ||
| XR_001747946.2:n.4363T>A | ||
| XR_002957189.1:n.6146T>A | ||
| NM_000352.6:c.4291T>A MANE Select | NP_000343.2:p.Phe1431Ile | |
| NM_001287174.2:c.4294T>A | NP_001274103.1:p.Phe1432Ile | |
| NM_001351295.2:c.4357T>A | NP_001338224.1:p.Phe1453Ile | |
| NM_001351296.2:c.4291T>A | NP_001338225.1:p.Phe1431Ile | |
| NM_001351297.2:c.4288T>A | NP_001338226.1:p.Phe1430Ile | |
| NR_147094.2:n.4586T>A | ||
| NM_001287174.3:c.4294T>A | NP_001274103.1:p.Phe1432Ile |