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.17395713T>G , CM000673.2:g.17395713T>G | GRCh38 |
| NC_000011.9:g.17417260T>G , CM000673.1:g.17417260T>G | GRCh37 |
| NC_000011.8:g.17373836T>G | NCBI36 |
| NG_008867.1:g.86190A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3805A>C | ||
| ENST00000528374.2:c.795A>C | ||
| ENST00000529967.6:n.2543A>C | ||
| ENST00000532220.2:n.3437A>C | ||
| ENST00000642611.2:n.5537A>C | ||
| ENST00000644057.2:n.780A>C | ||
| ENST00000645004.2:n.1703A>C | ||
| ENST00000682051.1:n.4366A>C | ||
| ENST00000682110.1:n.4419A>C | ||
| ENST00000682140.1:c.4070A>C | ENSP00000507829.1:p.His1357Pro | |
| ENST00000682185.1:n.5509A>C | ||
| ENST00000682204.1:c.*2342A>C | ENSP00000507094.1:n.*2342A>C | |
| ENST00000682215.1:n.4786A>C | ||
| ENST00000682288.1:c.*2635A>C | ENSP00000507506.1:n.*2635A>C | |
| ENST00000682442.1:n.4639A>C | ||
| ENST00000682528.1:n.4496A>C | ||
| ENST00000682673.1:n.4363A>C | ||
| ENST00000682805.1:n.4824A>C | ||
| ENST00000682965.1:c.*626A>C | ENSP00000508229.1:n.*626A>C | |
| ENST00000683093.1:n.5503A>C | ||
| ENST00000683136.1:c.4087A>C | ENSP00000507768.1:p.Ile1363Leu | |
| ENST00000683153.1:n.4461A>C | ||
| ENST00000683365.1:n.4521A>C | ||
| ENST00000683377.1:n.4419A>C | ||
| ENST00000683456.1:c.*1341A>C | ENSP00000508318.1:n.*1341A>C | |
| ENST00000683522.1:n.4419A>C | ||
| ENST00000683562.1:c.*2373A>C | ENSP00000508265.1:n.*2373A>C | |
| ENST00000683693.1:n.5984A>C | ||
| ENST00000683725.1:c.4204A>C | ENSP00000507496.1:p.Ile1402Leu | |
| ENST00000684010.1:n.4414A>C | ||
| ENST00000684157.1:n.5404A>C | ||
| ENST00000684253.1:n.4322A>C | ||
| ENST00000684288.1:c.*2376A>C | ENSP00000507143.1:n.*2376A>C | |
| ENST00000684313.1:n.3851A>C | ||
| ENST00000684332.1:n.4492A>C | ||
| ENST00000684371.1:n.4525A>C | ||
| ENST00000684404.1:n.5447A>C | ||
| ENST00000684442.1:n.4643A>C | ||
| ENST00000684555.1:c.*2416A>C | ENSP00000507705.1:n.*2416A>C | |
| ENST00000684571.1:c.4045A>C | ENSP00000506935.1:p.Ile1349Leu | |
| ENST00000684593.1:c.*3909A>C | ENSP00000507005.1:n.*3909A>C | |
| ENST00000684711.1:c.*2600A>C | ENSP00000506841.1:n.*2600A>C | |
| ENST00000302539.9:c.4207A>C | ENSP00000303960.4:p.Ile1403Leu | |
| ENST00000389817.8:c.4204A>C MANE Select | ENSP00000374467.4:p.Ile1402Leu | |
| ENST00000642271.1:c.4201A>C | ENSP00000493749.1:p.Ile1401Leu | |
| ENST00000642579.1:c.2258A>C | ||
| ENST00000642611.1:n.5422A>C | ||
| ENST00000642902.1:c.3986A>C | ||
| ENST00000643260.1:c.4204A>C | ENSP00000494450.1:p.Ile1402Leu | |
| ENST00000643562.1:c.*2326A>C | ENSP00000496124.1:n.*2326A>C | |
| ENST00000643925.1:c.2844A>C | ||
| ENST00000644057.1:n.281A>C | ||
| ENST00000644484.1:c.*3590A>C | ENSP00000493558.1:n.*3590A>C | |
| ENST00000644675.1:c.*2376A>C | ENSP00000494567.1:n.*2376A>C | |
| ENST00000644757.1:c.*3202+551A>C | ENSP00000495085.1:n.*3202+551A>C | |
| ENST00000644772.1:c.4270A>C | ENSP00000494321.1:p.Ile1424Leu | |
| ENST00000645004.1:n.1897A>C | ||
| ENST00000645076.1:c.3403A>C | ||
| ENST00000645417.1:c.1392A>C | ||
| ENST00000645744.1:c.*3964-75A>C | ENSP00000494564.1:n.*3964-75A>C | |
| ENST00000645760.1:c.4625A>C | ||
| ENST00000645884.1:c.*1487A>C | ENSP00000495516.1:n.*1487A>C | |
| ENST00000646003.1:c.*2301-75A>C | ENSP00000495259.1:n.*2301-75A>C | |
| ENST00000646207.1:c.*3041A>C | ENSP00000495025.1:n.*3041A>C | |
| ENST00000646276.1:c.*3608A>C | ENSP00000496070.1:n.*3608A>C | |
| ENST00000646592.1:c.3510A>C | ||
| ENST00000646902.1:c.4171A>C | ENSP00000494101.1:p.Ile1391Leu | |
| ENST00000646993.1:c.*2746A>C | ENSP00000493720.1:n.*2746A>C | |
| ENST00000647013.1:c.4210A>C | ENSP00000496741.1:n.4210A>C | |
| ENST00000647015.1:c.3955A>C | ENSP00000495389.1:p.Ile1319Leu | |
| ENST00000647086.1:c.*3790A>C | ENSP00000493677.1:n.*3790A>C | |
| ENST00000647158.1:c.*2491A>C | ENSP00000495744.1:n.*2491A>C | |
| ENST00000302539.8:c.4207A>C | ENSP00000303960.4:p.Ile1403Leu | |
| ENST00000389817.7:c.4204A>C | ENSP00000374467.3:p.Ile1402Leu | |
| ENST00000525022.1:n.203A>C | ||
| ENST00000526037.5:n.68A>C | ||
| ENST00000526168.5:c.67-75A>C | ||
| ENST00000531642.5:c.40A>C | ||
| NM_000352.4:c.4204A>C | NP_000343.2:p.Ile1402Leu | |
| NM_001287174.1:c.4207A>C | NP_001274103.1:p.Ile1403Leu | |
| XM_011520331.1:c.4204A>C | XP_011518633.1:p.Ile1402Leu | |
| XM_011520332.1:c.4207A>C | XP_011518634.1:p.Ile1403Leu | |
| XM_011520333.1:c.2704A>C | XP_011518635.1:p.Ile902Leu | |
| XR_930890.1:n.4270A>C | ||
| NM_001351295.1:c.4270A>C | NP_001338224.1:p.Ile1424Leu | |
| NM_001351296.1:c.4204A>C | NP_001338225.1:p.Ile1402Leu | |
| NM_001351297.1:c.4201A>C | NP_001338226.1:p.Ile1401Leu | |
| NR_147094.1:n.4499A>C | ||
| XM_017018197.2:c.4273A>C | XP_016873686.1:p.Ile1425Leu | |
| XM_017018199.1:c.4270A>C | XP_016873688.1:p.Ile1424Leu | |
| XM_017018201.2:c.4273A>C | XP_016873690.1:p.Ile1425Leu | |
| XM_017018202.1:c.2770A>C | XP_016873691.1:p.Ile924Leu | |
| XM_017018204.1:c.2161A>C | XP_016873693.1:p.Ile721Leu | |
| XM_024448668.1:c.2572A>C | XP_024304436.1:p.Ile858Leu | |
| XR_001747945.2:n.4345A>C | ||
| XR_001747946.2:n.4276A>C | ||
| XR_002957189.1:n.6059A>C | ||
| NM_000352.6:c.4204A>C MANE Select | NP_000343.2:p.Ile1402Leu | |
| NM_001287174.2:c.4207A>C | NP_001274103.1:p.Ile1403Leu | |
| NM_001351295.2:c.4270A>C | NP_001338224.1:p.Ile1424Leu | |
| NM_001351296.2:c.4204A>C | NP_001338225.1:p.Ile1402Leu | |
| NM_001351297.2:c.4201A>C | NP_001338226.1:p.Ile1401Leu | |
| NR_147094.2:n.4499A>C | ||
| NM_001287174.3:c.4207A>C | NP_001274103.1:p.Ile1403Leu |