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.17393111G>T , CM000673.2:g.17393111G>T | GRCh38 |
| NC_000011.9:g.17414658G>T , CM000673.1:g.17414658G>T | GRCh37 |
| NC_000011.8:g.17371234G>T | NCBI36 |
| NG_008867.1:g.88792C>A | |
| NG_012446.1:g.549C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.4227C>A | ||
| ENST00000526037.6:n.561C>A | ||
| ENST00000528374.2:c.1217C>A | ||
| ENST00000529967.6:n.2965C>A | ||
| ENST00000532220.2:n.3859C>A | ||
| ENST00000642611.2:n.5959C>A | ||
| ENST00000644057.2:n.1202C>A | ||
| ENST00000645004.2:n.2125C>A | ||
| ENST00000682051.1:n.4788C>A | ||
| ENST00000682110.1:n.4841C>A | ||
| ENST00000682140.1:c.*412C>A | ENSP00000507829.1:n.*412C>A | |
| ENST00000682185.1:n.5931C>A | ||
| ENST00000682204.1:c.*2764C>A | ENSP00000507094.1:n.*2764C>A | |
| ENST00000682215.1:n.5208C>A | ||
| ENST00000682288.1:c.*3057C>A | ENSP00000507506.1:n.*3057C>A | |
| ENST00000682442.1:n.5061C>A | ||
| ENST00000682528.1:n.4918C>A | ||
| ENST00000682673.1:n.4785C>A | ||
| ENST00000682805.1:n.5246C>A | ||
| ENST00000682965.1:c.*1048C>A | ENSP00000508229.1:n.*1048C>A | |
| ENST00000683093.1:n.5821C>A | ||
| ENST00000683136.1:c.4509C>A | ENSP00000507768.1:p.Ile1503= | |
| ENST00000683153.1:n.4883C>A | ||
| ENST00000683365.1:n.4943C>A | ||
| ENST00000683377.1:n.4737C>A | ||
| ENST00000683456.1:c.*1763C>A | ENSP00000508318.1:n.*1763C>A | |
| ENST00000683522.1:n.4923C>A | ||
| ENST00000683562.1:c.*2691C>A | ENSP00000508265.1:n.*2691C>A | |
| ENST00000683693.1:n.6302C>A | ||
| ENST00000683725.1:c.*91C>A | ENSP00000507496.1:n.*91C>A | |
| ENST00000684010.1:n.4836C>A | ||
| ENST00000684014.1:n.813C>A | ||
| ENST00000684157.1:n.5826C>A | ||
| ENST00000684253.1:n.4744C>A | ||
| ENST00000684288.1:c.*2798C>A | ENSP00000507143.1:n.*2798C>A | |
| ENST00000684313.1:n.4273C>A | ||
| ENST00000684332.1:n.4914C>A | ||
| ENST00000684371.1:n.4947C>A | ||
| ENST00000684404.1:n.5869C>A | ||
| ENST00000684442.1:n.5065C>A | ||
| ENST00000684555.1:c.*2838C>A | ENSP00000507705.1:n.*2838C>A | |
| ENST00000684571.1:c.4467C>A | ENSP00000506935.1:p.Ile1489= | |
| ENST00000684593.1:c.*4331C>A | ENSP00000507005.1:n.*4331C>A | |
| ENST00000684711.1:c.*3022C>A | ENSP00000506841.1:n.*3022C>A | |
| ENST00000302539.9:c.4629C>A | ENSP00000303960.4:p.Ile1543= | |
| ENST00000389817.8:c.4626C>A MANE Select | ENSP00000374467.4:p.Ile1542= | |
| ENST00000642271.1:c.4623C>A | ENSP00000493749.1:p.Ile1541= | |
| ENST00000642579.1:c.2680C>A | ||
| ENST00000642611.1:n.5844C>A | ||
| ENST00000642902.1:c.4408C>A | ||
| ENST00000643260.1:c.4626C>A | ENSP00000494450.1:p.Ile1542= | |
| ENST00000643562.1:c.*2748C>A | ENSP00000496124.1:n.*2748C>A | |
| ENST00000643925.1:c.3203C>A | ||
| ENST00000644057.1:n.785C>A | ||
| ENST00000644484.1:c.*4012C>A | ENSP00000493558.1:n.*4012C>A | |
| ENST00000644675.1:c.*2798C>A | ENSP00000494567.1:n.*2798C>A | |
| ENST00000644757.1:c.*3203-131C>A | ENSP00000495085.1:n.*3203-131C>A | |
| ENST00000644772.1:c.4692C>A | ENSP00000494321.1:p.Ile1564= | |
| ENST00000645004.1:n.2319C>A | ||
| ENST00000645076.1:c.3721C>A | ||
| ENST00000645417.1:c.1814C>A | ||
| ENST00000645744.1:c.*4311C>A | ENSP00000494564.1:n.*4311C>A | |
| ENST00000645760.1:c.5047C>A | ||
| ENST00000645884.1:c.*1909C>A | ENSP00000495516.1:n.*1909C>A | |
| ENST00000646003.1:c.*2648C>A | ENSP00000495259.1:n.*2648C>A | |
| ENST00000646207.1:c.*3463C>A | ENSP00000495025.1:n.*3463C>A | |
| ENST00000646276.1:c.*4030C>A | ENSP00000496070.1:n.*4030C>A | |
| ENST00000646592.1:c.3932C>A | ||
| ENST00000646902.1:c.4593C>A | ENSP00000494101.1:p.Ile1531= | |
| ENST00000646993.1:c.*3064C>A | ENSP00000493720.1:n.*3064C>A | |
| ENST00000647015.1:c.4377C>A | ENSP00000495389.1:p.Ile1459= | |
| ENST00000647086.1:c.*4212C>A | ENSP00000493677.1:n.*4212C>A | |
| ENST00000647158.1:c.*2913C>A | ENSP00000495744.1:n.*2913C>A | |
| ENST00000302539.8:c.4629C>A | ENSP00000303960.4:p.Ile1543= | |
| ENST00000389817.7:c.4626C>A | ENSP00000374467.3:p.Ile1542= | |
| ENST00000525022.1:n.605C>A | ||
| ENST00000526037.5:n.386C>A | ||
| ENST00000526168.5:c.414C>A | ||
| ENST00000531642.5:c.657C>A | ||
| NM_000352.4:c.4626C>A | NP_000343.2:p.Ile1542= | |
| NM_001287174.1:c.4629C>A | NP_001274103.1:p.Ile1543= | |
| XM_011520331.1:c.4626C>A | XP_011518633.1:p.Ile1542= | |
| XM_011520333.1:c.3126C>A | XP_011518635.1:p.Ile1042= | |
| XR_930890.1:n.4588C>A | ||
| NM_001351295.1:c.4692C>A | NP_001338224.1:p.Ile1564= | |
| NM_001351296.1:c.4626C>A | NP_001338225.1:p.Ile1542= | |
| NM_001351297.1:c.4623C>A | NP_001338226.1:p.Ile1541= | |
| NR_147094.1:n.4921C>A | ||
| XM_017018197.2:c.4695C>A | XP_016873686.1:p.Ile1565= | |
| XM_017018199.1:c.4692C>A | XP_016873688.1:p.Ile1564= | |
| XM_017018202.1:c.3192C>A | XP_016873691.1:p.Ile1064= | |
| XM_017018204.1:c.2583C>A | XP_016873693.1:p.Ile861= | |
| XM_024448668.1:c.2994C>A | XP_024304436.1:p.Ile998= | |
| XR_001747945.2:n.4663C>A | ||
| XR_001747946.2:n.4594C>A | ||
| XR_002957189.1:n.6377C>A | ||
| NM_000352.6:c.4626C>A MANE Select | NP_000343.2:p.Ile1542= | |
| NM_001287174.2:c.4629C>A | NP_001274103.1:p.Ile1543= | |
| NM_001351295.2:c.4692C>A | NP_001338224.1:p.Ile1564= | |
| NM_001351296.2:c.4626C>A | NP_001338225.1:p.Ile1542= | |
| NM_001351297.2:c.4623C>A | NP_001338226.1:p.Ile1541= | |
| NR_147094.2:n.4921C>A | ||
| NM_001287174.3:c.4629C>A | NP_001274103.1:p.Ile1543= |