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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511436A>T;81511468G>C;81511485A>G;81511502A>C] , CM000679.2:g.[81511436A>T;81511468G>C;81511485A>G;81511502A>C] | GRCh38 |
| NC_000017.10:g.[79478462A>T;79478494G>C;79478511A>G;79478528A>C] , CM000679.1:g.[79478462A>T;79478494G>C;79478511A>G;79478528A>C] | GRCh37 |
| NC_000017.9:g.[77093057A>T;77093089G>C;77093106A>G;77093123A>C] | NCBI36 |
| NG_011433.1:g.[6300T>G;6317T>C;6334C>G;6366T>A] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[488T>G;505T>C;522C>G;554T>A] | ENSP00000466346.2:p.[Val163Gly;Tyr169His;Ala174=;Leu185Gln] | |
| ENST00000571691.6:c.[416T>G;433T>C;450C>G;482T>A] | ENSP00000461407.2:p.[Val139Gly;Tyr145His;Ala150=;Leu161Gln] | |
| ENST00000571721.6:c.[488T>G;505T>C;522C>G;554T>A] | ENSP00000460660.2:p.[Val163Gly;Tyr169His;Ala174=;Leu185Gln] | |
| ENST00000572105.7:c.[529T>G;546T>C;563C>G;595T>A] | ENSP00000462823.1:p.[Cys177Gly;Ala182=;Pro188Arg;Ter199Arg] | |
| ENST00000573283.7:c.[488T>G;505T>C;522C>G;554T>A] MANE Select | ENSP00000458435.1:p.[Val163Gly;Tyr169His;Ala174=;Leu185Gln] | |
| ENST00000574671.6:n.[888T>G;905T>C;922C>G;954T>A] | ||
| ENST00000575659.6:c.[488T>G;505T>C;522C>G;554T>A] | ENSP00000459119.2:p.[Val163Gly;Tyr169His;Ala174=;Leu185Gln] | |
| ENST00000575994.6:c.[488T>G;505T>C;522C>G;554T>A] | ENSP00000460464.2:p.[Val163Gly;Tyr169His;Ala174=;Leu185Gln] | |
| ENST00000576214.3:n.[789T>G;806T>C;823C>G;855T>A] | ||
| ENST00000576544.6:c.[488T>G;505T>C;522C>G;554T>A] | ENSP00000461672.1:p.[Val163Gly;Tyr169His;Ala174=;Leu185Gln] | |
| ENST00000615544.5:c.[488T>G;505T>C;522C>G;554T>A] | ENSP00000477968.1:p.[Val163Gly;Tyr169His;Ala174=;Leu185Gln] | |
| ENST00000644774.2:c.[461T>G;478T>C;495C>G;527T>A] | ENSP00000493648.2:p.[Val154Gly;Tyr160His;Ala165=;Leu176Gln] | |
| ENST00000679410.1:n.[612T>G;629T>C;646C>G;678T>A] | ||
| ENST00000679480.1:c.[488T>G;505T>C;522C>G;554T>A] | ENSP00000506201.1:p.[Val163Gly;Tyr169His;Ala174=;Leu185Gln] | |
| ENST00000679535.1:n.[789T>G;806T>C;823C>G;855T>A] | ||
| ENST00000679778.1:c.[488T>G;505T>C;522C>G;554T>A] | ENSP00000505235.1:p.[Val163Gly;Tyr169His;Ala174=;Leu185Gln] | |
| ENST00000680227.1:c.[488T>G;505T>C;522C>G;554T>A] | ENSP00000506253.1:p.[Val163Gly;Tyr169His;Ala174=;Leu185Gln] | |
| ENST00000680727.1:c.[488T>G;505T>C;522C>G;554T>A] | ENSP00000505193.1:p.[Val163Gly;Tyr169His;Ala174=;Leu185Gln] | |
| ENST00000681052.1:c.[488T>G;505T>C;522C>G;554T>A] | ENSP00000505060.1:p.[Val163Gly;Tyr169His;Ala174=;Leu185Gln] | |
| ENST00000681092.1:c.[*292T>G;*309T>C;*326C>G;*358T>A] | ENSP00000506720.1:n.[*292T>G;*309T>C;*326C>G;*358T>A] | |
| ENST00000681842.1:c.[488T>G;505T>C;522C>G;554T>A] | ENSP00000506126.1:p.[Val163Gly;Tyr169His;Ala174=;Leu185Gln] | |
| ENST00000331925.6:c.[488T>G;505T>C;522C>G;554T>A] | ENSP00000331514.2:p.[Val163Gly;Tyr169His;Ala174=;Leu185Gln] | |
| ENST00000571691.5:c.[461T>G;478T>C;495C>G;527T>A] | ENSP00000461407.1:p.[Val154Gly;Tyr160His;Ala165=;Leu176Gln] | |
| ENST00000572105.6:c.[529T>G;546T>C;563C>G;595T>A] | ENSP00000462823.1:p.[Cys177Gly;Ala182=;Pro188Arg;Ter199Arg] | |
| ENST00000573283.5:c.[488T>G;505T>C;522C>G;554T>A] | ENSP00000458435.1:p.[Val163Gly;Tyr169His;Ala174=;Leu185Gln] | |
| ENST00000574671.5:n.[347T>G;364T>C;381C>G;413T>A] | ||
| ENST00000575087.5:c.[488T>G;505T>C;522C>G;554T>A] | ENSP00000459124.1:p.[Val163Gly;Tyr169His;Ala174=;Leu185Gln] | |
| ENST00000575659.5:c.[488T>G;505T>C;522C>G;554T>A] | ENSP00000459119.1:p.[Val163Gly;Tyr169His;Ala174=;Leu185Gln] | |
| ENST00000575842.5:c.[488T>G;505T>C;522C>G;554T>A] | ENSP00000458162.1:p.[Val163Gly;Tyr169His;Ala174=;Leu185Gln] | |
| ENST00000575994.5:c.[488T>G;505T>C;522C>G;554T>A] | ENSP00000460464.1:p.[Val163Gly;Tyr169His;Ala174=;Leu185Gln] | |
| ENST00000576209.5:n.[373T>G;390T>C;407C>G;439T>A] | ||
| ENST00000576214.2:n.[686T>G;703T>C;720C>G;752T>A] | ||
| ENST00000576544.5:c.[488T>G;505T>C;522C>G;554T>A] | ENSP00000461672.1:p.[Val163Gly;Tyr169His;Ala174=;Leu185Gln] | |
| ENST00000576917.5:n.[541T>G;558T>C;575C>G;607T>A] | ||
| ENST00000615544.4:c.[488T>G;505T>C;522C>G;554T>A] | ENSP00000477968.1:p.[Val163Gly;Tyr169His;Ala174=;Leu185Gln] | |
| NM_001199954.1:c.[488T>G;505T>C;522C>G;554T>A] | NP_001186883.1:p.[Val163Gly;Tyr169His;Ala174=;Leu185Gln] | |
| NM_001614.3:c.[488T>G;505T>C;522C>G;554T>A] | NP_001605.1:p.[Val163Gly;Tyr169His;Ala174=;Leu185Gln] | |
| NR_037688.1:n.[627T>G;644T>C;661C>G;693T>A] | ||
| NM_001199954.2:c.[488T>G;505T>C;522C>G;554T>A] | NP_001186883.1:p.[Val163Gly;Tyr169His;Ala174=;Leu185Gln] | |
| NM_001614.4:c.[488T>G;505T>C;522C>G;554T>A] | NP_001605.1:p.[Val163Gly;Tyr169His;Ala174=;Leu185Gln] | |
| NR_037688.2:n.[560T>G;577T>C;594C>G;626T>A] | ||
| NM_001614.5:c.[488T>G;505T>C;522C>G;554T>A] MANE Select | NP_001605.1:p.[Val163Gly;Tyr169His;Ala174=;Leu185Gln] | |
| NR_037688.3:n.[560T>G;577T>C;594C>G;626T>A] | ||
| NM_001199954.3:c.[488T>G;505T>C;522C>G;554T>A] | NP_001186883.1:p.[Val163Gly;Tyr169His;Ala174=;Leu185Gln] |