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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511434T>G;81511436A>T;81511443G>C;81511462C>T;81511502A>G] , CM000679.2:g.[81511434T>G;81511436A>T;81511443G>C;81511462C>T;81511502A>G] | GRCh38 |
| NC_000017.10:g.[79478460T>G;79478462A>T;79478469G>C;79478488C>T;79478528A>G] , CM000679.1:g.[79478460T>G;79478462A>T;79478469G>C;79478488C>T;79478528A>G] | GRCh37 |
| NC_000017.9:g.[77093055T>G;77093057A>T;77093064G>C;77093083C>T;77093123A>G] | NCBI36 |
| NG_011433.1:g.[6300T>C;6340G>A;6359C>G;6366T>A;6368A>C] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[488T>C;528G>A;547C>G;554T>A;556A>C] | ENSP00000466346.2:p.[Val163Ala;Leu176=;Arg183Gly;Leu185_Thr18... | |
| ENST00000571691.6:c.[416T>C;456G>A;475C>G;482T>A;484A>C] | ENSP00000461407.2:p.[Val139Ala;Leu152=;Arg159Gly;Leu161_Thr16... | |
| ENST00000571721.6:c.[488T>C;528G>A;547C>G;554T>A;556A>C] | ENSP00000460660.2:p.[Val163Ala;Leu176=;Arg183Gly;Leu185_Thr18... | |
| ENST00000572105.7:c.[529T>C;569G>A;588C>G;595T>A;597A>C] | ENSP00000462823.1:p.[Cys177Arg;Cys190Tyr;Ala196=;Ter199Ile] | |
| ENST00000573283.7:c.[488T>C;528G>A;547C>G;554T>A;556A>C] MANE Select | ENSP00000458435.1:p.[Val163Ala;Leu176=;Arg183Gly;Leu185_Thr18... | |
| ENST00000574671.6:n.[888T>C;928G>A;947C>G;954T>A;956A>C] | ||
| ENST00000575659.6:c.[488T>C;528G>A;547C>G;554T>A;556A>C] | ENSP00000459119.2:p.[Val163Ala;Leu176=;Arg183Gly;Leu185Gln;Th... | |
| ENST00000575994.6:c.[488T>C;528G>A;547C>G;554T>A;556A>C] | ENSP00000460464.2:p.[Val163Ala;Leu176=;Arg183Gly;Leu185Gln;Th... | |
| ENST00000576214.3:n.[789T>C;829G>A;848C>G;855T>A;857A>C] | ||
| ENST00000576544.6:c.[488T>C;528G>A;547C>G;554T>A;556A>C] | ENSP00000461672.1:p.[Val163Ala;Leu176=;Arg183Gly;Leu185Gln;Th... | |
| ENST00000615544.5:c.[488T>C;528G>A;547C>G;554T>A;556A>C] | ENSP00000477968.1:p.[Val163Ala;Leu176=;Arg183Gly;Leu185Gln;Th... | |
| ENST00000644774.2:c.[461T>C;501G>A;520C>G;527T>A;529A>C] | ENSP00000493648.2:p.[Val154Ala;Leu167=;Arg174Gly;Leu176_Thr17... | |
| ENST00000679410.1:n.[612T>C;652G>A;671C>G;678T>A;680A>C] | ||
| ENST00000679480.1:c.[488T>C;528G>A;547C>G;554T>A;556A>C] | ENSP00000506201.1:p.[Val163Ala;Leu176=;Arg183Gly;Leu185Gln;Th... | |
| ENST00000679535.1:n.[789T>C;829G>A;848C>G;855T>A;857A>C] | ||
| ENST00000679778.1:c.[488T>C;528G>A;547C>G;554T>A;556A>C] | ENSP00000505235.1:p.[Val163Ala;Leu176=;Arg183Gly;Leu185Gln;Th... | |
| ENST00000680227.1:c.[488T>C;528G>A;547C>G;554T>A;556A>C] | ENSP00000506253.1:p.[Val163Ala;Leu176=;Arg183Gly;Leu185_Thr18... | |
| ENST00000680727.1:c.[488T>C;528G>A;547C>G;554T>A;556A>C] | ENSP00000505193.1:p.[Val163Ala;Leu176=;Arg183Gly;Leu185_Thr18... | |
| ENST00000681052.1:c.[488T>C;528G>A;547C>G;554T>A;556A>C] | ENSP00000505060.1:p.[Val163Ala;Leu176=;Arg183Gly;Leu185Gln;Th... | |
| ENST00000681092.1:c.[*292T>C;*332G>A;*351C>G;*358T>A;*360A>C] | ENSP00000506720.1:n.[*292T>C;*332G>A;*351C>G;*358T>A;*360A>C]... | |
| ENST00000681842.1:c.[488T>C;528G>A;547C>G;554T>A;556A>C] | ENSP00000506126.1:p.[Val163Ala;Leu176=;Arg183Gly;Leu185_Thr18... | |
| ENST00000331925.6:c.[488T>C;528G>A;547C>G;554T>A;556A>C] | ENSP00000331514.2:p.[Val163Ala;Leu176=;Arg183Gly;Leu185_Thr18... | |
| ENST00000571691.5:c.[461T>C;501G>A;520C>G;527T>A;529A>C] | ENSP00000461407.1:p.[Val154Ala;Leu167=;Arg174Gly;Leu176_Thr17... | |
| ENST00000572105.6:c.[529T>C;569G>A;588C>G;595T>A;597A>C] | ENSP00000462823.1:p.[Cys177Arg;Cys190Tyr;Ala196=;Ter199Arg;Te... | |
| ENST00000573283.5:c.[488T>C;528G>A;547C>G;554T>A;556A>C] | ENSP00000458435.1:p.[Val163Ala;Leu176=;Arg183Gly;Leu185Gln;Th... | |
| ENST00000574671.5:n.[347T>C;387G>A;406C>G;413T>A;415A>C] | ||
| ENST00000575087.5:c.[488T>C;528G>A;547C>G;554T>A;556A>C] | ENSP00000459124.1:p.[Val163Ala;Leu176=;Arg183Gly;Leu185Gln;Th... | |
| ENST00000575659.5:c.[488T>C;528G>A;547C>G;554T>A;556A>C] | ENSP00000459119.1:p.[Val163Ala;Leu176=;Arg183Gly;Leu185Gln;Th... | |
| ENST00000575842.5:c.[488T>C;528G>A;547C>G;554T>A;556A>C] | ENSP00000458162.1:p.[Val163Ala;Leu176=;Arg183Gly;Leu185Gln;Th... | |
| ENST00000575994.5:c.[488T>C;528G>A;547C>G;554T>A;556A>C] | ENSP00000460464.1:p.[Val163Ala;Leu176=;Arg183Gly;Leu185Gln;Th... | |
| ENST00000576209.5:n.[373T>C;413G>A;432C>G;439T>A;441A>C] | ||
| ENST00000576214.2:n.[686T>C;726G>A;745C>G;752T>A;754A>C] | ||
| ENST00000576544.5:c.[488T>C;528G>A;547C>G;554T>A;556A>C] | ENSP00000461672.1:p.[Val163Ala;Leu176=;Arg183Gly;Leu185Gln;Th... | |
| ENST00000576917.5:n.[541T>C;581G>A;600C>G;607T>A;609A>C] | ||
| ENST00000615544.4:c.[488T>C;528G>A;547C>G;554T>A;556A>C] | ENSP00000477968.1:p.[Val163Ala;Leu176=;Arg183Gly;Leu185Gln;Th... | |
| NM_001199954.1:c.[488T>C;528G>A;547C>G;554T>A;556A>C] | NP_001186883.1:p.[Val163Ala;Leu176=;Arg183Gly;Leu185_Thr186de... | |
| NM_001614.3:c.[488T>C;528G>A;547C>G;554T>A;556A>C] | NP_001605.1:p.[Val163Ala;Leu176=;Arg183Gly;Leu185Gln;Thr186Pr... | |
| NR_037688.1:n.[627T>C;667G>A;686C>G;693T>A;695A>C] | ||
| NM_001199954.2:c.[488T>C;528G>A;547C>G;554T>A;556A>C] | NP_001186883.1:p.[Val163Ala;Leu176=;Arg183Gly;Leu185Gln;Thr18... | |
| NM_001614.4:c.[488T>C;528G>A;547C>G;554T>A;556A>C] | NP_001605.1:p.[Val163Ala;Leu176=;Arg183Gly;Leu185_Thr186delin... | |
| NR_037688.2:n.[560T>C;600G>A;619C>G;626T>A;628A>C] | ||
| NM_001614.5:c.[488T>C;528G>A;547C>G;554T>A;556A>C] MANE Select | NP_001605.1:p.[Val163Ala;Leu176=;Arg183Gly;Leu185_Thr186delin... | |
| NR_037688.3:n.[560T>C;600G>A;619C>G;626T>A;628A>C] | ||
| NM_001199954.3:c.[488T>C;528G>A;547C>G;554T>A;556A>C] | NP_001186883.1:p.[Val163Ala;Leu176=;Arg183Gly;Leu185Gln;Thr18... |