This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511436A>G;81511503C>A;81511507G>A;81511514A>T] , CM000679.2:g.[81511436A>G;81511503C>A;81511507G>A;81511514A>T] | GRCh38 |
| NC_000017.10:g.[79478462A>G;79478529C>A;79478533G>A;79478540A>T] , CM000679.1:g.[79478462A>G;79478529C>A;79478533G>A;79478540A>T] | GRCh37 |
| NC_000017.9:g.[77093057A>G;77093124C>A;77093128G>A;77093135A>T] | NCBI36 |
| NG_011433.1:g.[6288T>A;6295C>T;6299G>T;6366T>C] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[476T>A;483C>T;487G>T;554T>C] | ENSP00000466346.2:p.[Val159Asp;His161=;Val163Leu;Leu185Pro] | |
| ENST00000571691.6:c.[404T>A;411C>T;415G>T;482T>C] | ENSP00000461407.2:p.[Val135Asp;His137=;Val139Leu;Leu161Pro] | |
| ENST00000571721.6:c.[476T>A;483C>T;487G>T;554T>C] | ENSP00000460660.2:p.[Val159Asp;His161=;Val163Leu;Leu185Pro] | |
| ENST00000572105.7:c.[517T>A;524C>T;528G>T;595T>C] | ENSP00000462823.1:p.[Ser173Thr;Thr175Ile;Arg176=;Ter199Arg] | |
| ENST00000573283.7:c.[476T>A;483C>T;487G>T;554T>C] MANE Select | ENSP00000458435.1:p.[Val159Asp;His161=;Val163Leu;Leu185Pro] | |
| ENST00000574671.6:n.[876T>A;883C>T;887G>T;954T>C] | ||
| ENST00000575659.6:c.[476T>A;483C>T;487G>T;554T>C] | ENSP00000459119.2:p.[Val159Asp;His161=;Val163Leu;Leu185Pro] | |
| ENST00000575994.6:c.[476T>A;483C>T;487G>T;554T>C] | ENSP00000460464.2:p.[Val159Asp;His161=;Val163Leu;Leu185Pro] | |
| ENST00000576214.3:n.[777T>A;784C>T;788G>T;855T>C] | ||
| ENST00000576544.6:c.[476T>A;483C>T;487G>T;554T>C] | ENSP00000461672.1:p.[Val159Asp;His161=;Val163Leu;Leu185Pro] | |
| ENST00000615544.5:c.[476T>A;483C>T;487G>T;554T>C] | ENSP00000477968.1:p.[Val159Asp;His161=;Val163Leu;Leu185Pro] | |
| ENST00000644774.2:c.[449T>A;456C>T;460G>T;527T>C] | ENSP00000493648.2:p.[Val150Asp;His152=;Val154Leu;Leu176Pro] | |
| ENST00000679410.1:n.[600T>A;607C>T;611G>T;678T>C] | ||
| ENST00000679480.1:c.[476T>A;483C>T;487G>T;554T>C] | ENSP00000506201.1:p.[Val159Asp;His161=;Val163Leu;Leu185Pro] | |
| ENST00000679535.1:n.[777T>A;784C>T;788G>T;855T>C] | ||
| ENST00000679778.1:c.[476T>A;483C>T;487G>T;554T>C] | ENSP00000505235.1:p.[Val159Asp;His161=;Val163Leu;Leu185Pro] | |
| ENST00000680227.1:c.[476T>A;483C>T;487G>T;554T>C] | ENSP00000506253.1:p.[Val159Asp;His161=;Val163Leu;Leu185Pro] | |
| ENST00000680727.1:c.[476T>A;483C>T;487G>T;554T>C] | ENSP00000505193.1:p.[Val159Asp;His161=;Val163Leu;Leu185Pro] | |
| ENST00000681052.1:c.[476T>A;483C>T;487G>T;554T>C] | ENSP00000505060.1:p.[Val159Asp;His161=;Val163Leu;Leu185Pro] | |
| ENST00000681092.1:c.[*280T>A;*287C>T;*291G>T;*358T>C] | ENSP00000506720.1:n.[*280T>A;*287C>T;*291G>T;*358T>C] | |
| ENST00000681842.1:c.[476T>A;483C>T;487G>T;554T>C] | ENSP00000506126.1:p.[Val159Asp;His161=;Val163Leu;Leu185Pro] | |
| ENST00000331925.6:c.[476T>A;483C>T;487G>T;554T>C] | ENSP00000331514.2:p.[Val159Asp;His161=;Val163Leu;Leu185Pro] | |
| ENST00000571691.5:c.[449T>A;456C>T;460G>T;527T>C] | ENSP00000461407.1:p.[Val150Asp;His152=;Val154Leu;Leu176Pro] | |
| ENST00000572105.6:c.[517T>A;524C>T;528G>T;595T>C] | ENSP00000462823.1:p.[Ser173Thr;Thr175Ile;Arg176=;Ter199Arg] | |
| ENST00000573283.5:c.[476T>A;483C>T;487G>T;554T>C] | ENSP00000458435.1:p.[Val159Asp;His161=;Val163Leu;Leu185Pro] | |
| ENST00000574671.5:n.[335T>A;342C>T;346G>T;413T>C] | ||
| ENST00000575087.5:c.[476T>A;483C>T;487G>T;554T>C] | ENSP00000459124.1:p.[Val159Asp;His161=;Val163Leu;Leu185Pro] | |
| ENST00000575659.5:c.[476T>A;483C>T;487G>T;554T>C] | ENSP00000459119.1:p.[Val159Asp;His161=;Val163Leu;Leu185Pro] | |
| ENST00000575842.5:c.[476T>A;483C>T;487G>T;554T>C] | ENSP00000458162.1:p.[Val159Asp;His161=;Val163Leu;Leu185Pro] | |
| ENST00000575994.5:c.[476T>A;483C>T;487G>T;554T>C] | ENSP00000460464.1:p.[Val159Asp;His161=;Val163Leu;Leu185Pro] | |
| ENST00000576209.5:n.[361T>A;368C>T;372G>T;439T>C] | ||
| ENST00000576214.2:n.[674T>A;681C>T;685G>T;752T>C] | ||
| ENST00000576544.5:c.[476T>A;483C>T;487G>T;554T>C] | ENSP00000461672.1:p.[Val159Asp;His161=;Val163Leu;Leu185Pro] | |
| ENST00000576917.5:n.[529T>A;536C>T;540G>T;607T>C] | ||
| ENST00000615544.4:c.[476T>A;483C>T;487G>T;554T>C] | ENSP00000477968.1:p.[Val159Asp;His161=;Val163Leu;Leu185Pro] | |
| NM_001199954.1:c.[476T>A;483C>T;487G>T;554T>C] | NP_001186883.1:p.[Val159Asp;His161=;Val163Leu;Leu185Pro] | |
| NM_001614.3:c.[476T>A;483C>T;487G>T;554T>C] | NP_001605.1:p.[Val159Asp;His161=;Val163Leu;Leu185Pro] | |
| NR_037688.1:n.[615T>A;622C>T;626G>T;693T>C] | ||
| NM_001199954.2:c.[476T>A;483C>T;487G>T;554T>C] | NP_001186883.1:p.[Val159Asp;His161=;Val163Leu;Leu185Pro] | |
| NM_001614.4:c.[476T>A;483C>T;487G>T;554T>C] | NP_001605.1:p.[Val159Asp;His161=;Val163Leu;Leu185Pro] | |
| NR_037688.2:n.[548T>A;555C>T;559G>T;626T>C] | ||
| NM_001614.5:c.[476T>A;483C>T;487G>T;554T>C] MANE Select | NP_001605.1:p.[Val159Asp;His161=;Val163Leu;Leu185Pro] | |
| NR_037688.3:n.[548T>A;555C>T;559G>T;626T>C] | ||
| NM_001199954.3:c.[476T>A;483C>T;487G>T;554T>C] | NP_001186883.1:p.[Val159Asp;His161=;Val163Leu;Leu185Pro] |