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_000020.11:g.45424241G>A , CM000682.2:g.45424241G>A | GRCh38 |
| NC_000020.10:g.44052881G>A , CM000682.1:g.44052881G>A | GRCh37 |
| NC_000020.9:g.43486295G>A | NCBI36 |
| NG_047154.1:g.13175G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000424705.3:c.1260G>A | ENSP00000491856.2:p.Gln420= | |
| ENST00000638691.2:c.1260G>A | ENSP00000492094.2:p.Gln420= | |
| ENST00000639292.2:c.1341G>A | ENSP00000491678.2:p.Gln447= | |
| ENST00000640549.2:c.1260G>A | ENSP00000492043.2:p.Gln420= | |
| ENST00000687237.1:n.650G>A | ||
| ENST00000689203.1:c.1260G>A | ENSP00000508682.1:p.Gln420= | |
| ENST00000690879.1:n.736G>A | ||
| ENST00000692236.1:c.1260G>A | ENSP00000509421.1:p.Gln420= | |
| ENST00000279035.14:c.954G>A | ENSP00000279035.8:p.Gln318= | |
| ENST00000279036.12:c.1260G>A MANE Select | ENSP00000279036.6:p.Gln420= | |
| ENST00000432270.2:c.753G>A | ENSP00000408354.2:p.Gln251= | |
| ENST00000543458.7:c.1092G>A | ENSP00000441577.1:p.Gln364= | |
| ENST00000545755.3:c.678G>A | ENSP00000443963.3:p.Gln226= | |
| ENST00000638241.1:n.1138G>A | ||
| ENST00000638246.1:c.*760G>A | ENSP00000492883.1:n.*760G>A | |
| ENST00000638277.1:c.194G>A | ||
| ENST00000638383.1:c.*609G>A | ENSP00000492295.1:n.*609G>A | |
| ENST00000638387.1:c.*304G>A | ENSP00000492873.1:n.*304G>A | |
| ENST00000638415.1:c.797G>A | ||
| ENST00000638445.1:c.*644G>A | ENSP00000491297.1:n.*644G>A | |
| ENST00000638537.1:n.1049G>A | ||
| ENST00000638594.1:c.1260G>A | ENSP00000491697.1:p.Gln420= | |
| ENST00000638612.1:c.1260G>A | ENSP00000491458.1:p.Gln420= | |
| ENST00000638671.1:c.*644G>A | ENSP00000492875.1:n.*644G>A | |
| ENST00000638689.1:n.3467G>A | ||
| ENST00000638691.1:c.17G>A | ||
| ENST00000638710.1:c.1466G>A | ENSP00000491406.1:n.1466G>A | |
| ENST00000638714.1:c.*644G>A | ENSP00000491194.1:n.*644G>A | |
| ENST00000638745.1:c.*644G>A | ENSP00000491744.1:n.*644G>A | |
| ENST00000638927.1:c.402G>A | ENSP00000492335.1:p.Gln134= | |
| ENST00000638938.1:c.*716G>A | ENSP00000491171.1:n.*716G>A | |
| ENST00000638962.1:n.1220G>A | ||
| ENST00000638978.1:c.1210G>A | ENSP00000492743.1:p.Gly404Arg | |
| ENST00000639250.1:n.2510G>A | ||
| ENST00000639292.1:c.1120G>A | ||
| ENST00000639382.1:c.1119G>A | ENSP00000491534.1:p.Gln373= | |
| ENST00000639417.1:c.*304G>A | ENSP00000491058.1:n.*304G>A | |
| ENST00000639499.1:c.1260G>A | ENSP00000491170.1:p.Gln420= | |
| ENST00000639664.1:n.987G>A | ||
| ENST00000639783.1:c.*562G>A | ENSP00000491772.1:n.*562G>A | |
| ENST00000639872.1:n.829G>A | ||
| ENST00000639932.1:c.*562G>A | ENSP00000491600.1:n.*562G>A | |
| ENST00000639984.1:c.*562G>A | ENSP00000492727.1:n.*562G>A | |
| ENST00000640107.1:c.*520G>A | ENSP00000491118.1:n.*520G>A | |
| ENST00000640108.1:c.*949G>A | ENSP00000492007.1:n.*949G>A | |
| ENST00000640175.1:c.*562G>A | ENSP00000492418.1:n.*562G>A | |
| ENST00000640194.1:c.*579G>A | ENSP00000492279.1:n.*579G>A | |
| ENST00000640210.1:c.849G>A | ENSP00000491164.1:p.Gln283= | |
| ENST00000640253.1:n.474G>A | ||
| ENST00000640272.1:c.*644G>A | ENSP00000492270.1:n.*644G>A | |
| ENST00000640324.1:c.1266G>A | ENSP00000491074.1:p.Gln422= | |
| ENST00000640364.1:n.1983G>A | ||
| ENST00000640542.1:c.1059G>A | ENSP00000492174.1:p.Gln353= | |
| ENST00000640549.1:c.750G>A | ENSP00000492043.1:p.Gln250= | |
| ENST00000640585.1:c.*917G>A | ENSP00000491308.1:n.*917G>A | |
| ENST00000640638.1:n.428G>A | ||
| ENST00000640666.1:c.1260G>A | ENSP00000491072.1:p.Gln420= | |
| ENST00000640692.1:c.*176G>A | ENSP00000492370.1:n.*176G>A | |
| ENST00000640940.1:n.922G>A | ||
| ENST00000640986.1:c.*377G>A | ENSP00000491886.1:n.*377G>A | |
| ENST00000640996.1:c.*937G>A | ENSP00000492464.1:n.*937G>A | |
| ENST00000279035.13:c.954G>A | ENSP00000279035.8:p.Gln318= | |
| ENST00000279036.10:c.1260G>A | ENSP00000279036.6:p.Gln420= | |
| ENST00000372689.9:c.1059G>A | ENSP00000361774.4:p.Gln353= | |
| ENST00000455050.2:c.*791G>A | ENSP00000407574.2:n.*791G>A | |
| ENST00000543458.6:c.1092G>A | ENSP00000441577.1:p.Gln364= | |
| ENST00000545755.2:c.289G>A | ||
| NM_001184728.2:c.1092G>A | NP_001171657.1:p.Gln364= | |
| NM_001184729.2:c.1059G>A | NP_001171658.1:p.Gln353= | |
| NM_001184730.2:c.954G>A | NP_001171659.1:p.Gln318= | |
| NM_015937.5:c.1260G>A | NP_057021.2:p.Gln420= | |
| NR_047691.1:n.1310G>A | ||
| NR_047692.1:n.1253G>A | ||
| NR_047693.1:n.1249G>A | ||
| NR_047694.1:n.1172G>A | ||
| NR_047695.1:n.943G>A | ||
| XM_005260430.2:c.753G>A | XP_005260487.1:p.Gln251= | |
| XM_005260432.1:c.474G>A | XP_005260489.1:p.Gln158= | |
| XM_005260432.3:c.474G>A | XP_005260489.1:p.Gln158= | |
| XR_001754286.2:n.1296G>A | ||
| XR_001754287.2:n.1095G>A | ||
| NM_015937.6:c.1260G>A MANE Select | NP_057021.2:p.Gln420= | |
| NM_001184728.3:c.1092G>A | NP_001171657.1:p.Gln364= | |
| NM_001184729.3:c.1059G>A | NP_001171658.1:p.Gln353= | |
| NM_001184730.3:c.954G>A | NP_001171659.1:p.Gln318= | |
| NR_047691.2:n.1236G>A | ||
| NR_047692.2:n.1179G>A | ||
| NR_047693.2:n.1175G>A | ||
| NR_047694.2:n.1098G>A | ||
| NR_047695.2:n.869G>A |