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.17395711G>T , CM000673.2:g.17395711G>T | GRCh38 |
| NC_000011.9:g.17417258G>T , CM000673.1:g.17417258G>T | GRCh37 |
| NC_000011.8:g.17373834G>T | NCBI36 |
| NG_008867.1:g.86192C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3807C>A | ||
| ENST00000528374.2:c.797C>A | ||
| ENST00000529967.6:n.2545C>A | ||
| ENST00000532220.2:n.3439C>A | ||
| ENST00000642611.2:n.5539C>A | ||
| ENST00000644057.2:n.782C>A | ||
| ENST00000645004.2:n.1705C>A | ||
| ENST00000682051.1:n.4368C>A | ||
| ENST00000682110.1:n.4421C>A | ||
| ENST00000682140.1:c.4072C>A | ENSP00000507829.1:p.His1358Asn | |
| ENST00000682185.1:n.5511C>A | ||
| ENST00000682204.1:c.*2344C>A | ENSP00000507094.1:n.*2344C>A | |
| ENST00000682215.1:n.4788C>A | ||
| ENST00000682288.1:c.*2637C>A | ENSP00000507506.1:n.*2637C>A | |
| ENST00000682442.1:n.4641C>A | ||
| ENST00000682528.1:n.4498C>A | ||
| ENST00000682673.1:n.4365C>A | ||
| ENST00000682805.1:n.4826C>A | ||
| ENST00000682965.1:c.*628C>A | ENSP00000508229.1:n.*628C>A | |
| ENST00000683093.1:n.5505C>A | ||
| ENST00000683136.1:c.4089C>A | ENSP00000507768.1:p.Ile1363= | |
| ENST00000683153.1:n.4463C>A | ||
| ENST00000683365.1:n.4523C>A | ||
| ENST00000683377.1:n.4421C>A | ||
| ENST00000683456.1:c.*1343C>A | ENSP00000508318.1:n.*1343C>A | |
| ENST00000683522.1:n.4421C>A | ||
| ENST00000683562.1:c.*2375C>A | ENSP00000508265.1:n.*2375C>A | |
| ENST00000683693.1:n.5986C>A | ||
| ENST00000683725.1:c.4206C>A | ENSP00000507496.1:p.Ile1402= | |
| ENST00000684010.1:n.4416C>A | ||
| ENST00000684157.1:n.5406C>A | ||
| ENST00000684253.1:n.4324C>A | ||
| ENST00000684288.1:c.*2378C>A | ENSP00000507143.1:n.*2378C>A | |
| ENST00000684313.1:n.3853C>A | ||
| ENST00000684332.1:n.4494C>A | ||
| ENST00000684371.1:n.4527C>A | ||
| ENST00000684404.1:n.5449C>A | ||
| ENST00000684442.1:n.4645C>A | ||
| ENST00000684555.1:c.*2418C>A | ENSP00000507705.1:n.*2418C>A | |
| ENST00000684571.1:c.4047C>A | ENSP00000506935.1:p.Ile1349= | |
| ENST00000684593.1:c.*3911C>A | ENSP00000507005.1:n.*3911C>A | |
| ENST00000684711.1:c.*2602C>A | ENSP00000506841.1:n.*2602C>A | |
| ENST00000302539.9:c.4209C>A | ENSP00000303960.4:p.Ile1403= | |
| ENST00000389817.8:c.4206C>A MANE Select | ENSP00000374467.4:p.Ile1402= | |
| ENST00000642271.1:c.4203C>A | ENSP00000493749.1:p.Ile1401= | |
| ENST00000642579.1:c.2260C>A | ||
| ENST00000642611.1:n.5424C>A | ||
| ENST00000642902.1:c.3988C>A | ||
| ENST00000643260.1:c.4206C>A | ENSP00000494450.1:p.Ile1402= | |
| ENST00000643562.1:c.*2328C>A | ENSP00000496124.1:n.*2328C>A | |
| ENST00000643925.1:c.2846C>A | ||
| ENST00000644057.1:n.283C>A | ||
| ENST00000644484.1:c.*3592C>A | ENSP00000493558.1:n.*3592C>A | |
| ENST00000644675.1:c.*2378C>A | ENSP00000494567.1:n.*2378C>A | |
| ENST00000644757.1:c.*3202+553C>A | ENSP00000495085.1:n.*3202+553C>A | |
| ENST00000644772.1:c.4272C>A | ENSP00000494321.1:p.Ile1424= | |
| ENST00000645004.1:n.1899C>A | ||
| ENST00000645076.1:c.3405C>A | ||
| ENST00000645417.1:c.1394C>A | ||
| ENST00000645744.1:c.*3964-73C>A | ENSP00000494564.1:n.*3964-73C>A | |
| ENST00000645760.1:c.4627C>A | ||
| ENST00000645884.1:c.*1489C>A | ENSP00000495516.1:n.*1489C>A | |
| ENST00000646003.1:c.*2301-73C>A | ENSP00000495259.1:n.*2301-73C>A | |
| ENST00000646207.1:c.*3043C>A | ENSP00000495025.1:n.*3043C>A | |
| ENST00000646276.1:c.*3610C>A | ENSP00000496070.1:n.*3610C>A | |
| ENST00000646592.1:c.3512C>A | ||
| ENST00000646902.1:c.4173C>A | ENSP00000494101.1:p.Ile1391= | |
| ENST00000646993.1:c.*2748C>A | ENSP00000493720.1:n.*2748C>A | |
| ENST00000647013.1:c.4212C>A | ENSP00000496741.1:n.4212C>A | |
| ENST00000647015.1:c.3957C>A | ENSP00000495389.1:p.Ile1319= | |
| ENST00000647086.1:c.*3792C>A | ENSP00000493677.1:n.*3792C>A | |
| ENST00000647158.1:c.*2493C>A | ENSP00000495744.1:n.*2493C>A | |
| ENST00000302539.8:c.4209C>A | ENSP00000303960.4:p.Ile1403= | |
| ENST00000389817.7:c.4206C>A | ENSP00000374467.3:p.Ile1402= | |
| ENST00000525022.1:n.205C>A | ||
| ENST00000526037.5:n.70C>A | ||
| ENST00000526168.5:c.67-73C>A | ||
| ENST00000531642.5:c.42C>A | ||
| NM_000352.4:c.4206C>A | NP_000343.2:p.Ile1402= | |
| NM_001287174.1:c.4209C>A | NP_001274103.1:p.Ile1403= | |
| XM_011520331.1:c.4206C>A | XP_011518633.1:p.Ile1402= | |
| XM_011520332.1:c.4209C>A | XP_011518634.1:p.Ile1403= | |
| XM_011520333.1:c.2706C>A | XP_011518635.1:p.Ile902= | |
| XR_930890.1:n.4272C>A | ||
| NM_001351295.1:c.4272C>A | NP_001338224.1:p.Ile1424= | |
| NM_001351296.1:c.4206C>A | NP_001338225.1:p.Ile1402= | |
| NM_001351297.1:c.4203C>A | NP_001338226.1:p.Ile1401= | |
| NR_147094.1:n.4501C>A | ||
| XM_017018197.2:c.4275C>A | XP_016873686.1:p.Ile1425= | |
| XM_017018199.1:c.4272C>A | XP_016873688.1:p.Ile1424= | |
| XM_017018201.2:c.4275C>A | XP_016873690.1:p.Ile1425= | |
| XM_017018202.1:c.2772C>A | XP_016873691.1:p.Ile924= | |
| XM_017018204.1:c.2163C>A | XP_016873693.1:p.Ile721= | |
| XM_024448668.1:c.2574C>A | XP_024304436.1:p.Ile858= | |
| XR_001747945.2:n.4347C>A | ||
| XR_001747946.2:n.4278C>A | ||
| XR_002957189.1:n.6061C>A | ||
| NM_000352.6:c.4206C>A MANE Select | NP_000343.2:p.Ile1402= | |
| NM_001287174.2:c.4209C>A | NP_001274103.1:p.Ile1403= | |
| NM_001351295.2:c.4272C>A | NP_001338224.1:p.Ile1424= | |
| NM_001351296.2:c.4206C>A | NP_001338225.1:p.Ile1402= | |
| NM_001351297.2:c.4203C>A | NP_001338226.1:p.Ile1401= | |
| NR_147094.2:n.4501C>A | ||
| NM_001287174.3:c.4209C>A | NP_001274103.1:p.Ile1403= |