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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511436A>T;81511463A>T;81511465G>T;81511480G>T;81511482C>T;81511489C>G] , CM000679.2:g.[81511436A>T;81511463A>T;81511465G>T;81511480G>T;81511482C>T;81511489C>G] | GRCh38 |
| NC_000017.10:g.[79478462A>T;79478489A>T;79478491G>T;79478506G>T;79478508C>T;79478515C>G] , CM000679.1:g.[79478462A>T;79478489A>T;79478491G>T;79478506G>T;79478508C>T;79478515C>G] | GRCh37 |
| NC_000017.9:g.[77093057A>T;77093084A>T;77093086G>T;77093101G>T;77093103C>T;77093110C>G] | NCBI36 |
| NG_011433.1:g.[6313G>C;6320G>A;6322C>A;6337C>A;6339T>A;6366T>A] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[501G>C;508G>A;510C>A;525C>A;527T>A;554T>A] | ENSP00000466346.2:p.[Glu167Asp;Ala170Thr;Ala170=;Ile175=;Leu1... | |
| ENST00000571691.6:c.[429G>C;436G>A;438C>A;453C>A;455T>A;482T>A] | ENSP00000461407.2:p.[Glu143Asp;Ala146Thr;Ala146=;Ile151=;Leu1... | |
| ENST00000571721.6:c.[501G>C;508G>A;510C>A;525C>A;527T>A;554T>A] | ENSP00000460660.2:p.[Glu167Asp;Ala170Thr;Ala170=;Ile175=;Leu1... | |
| ENST00000572105.7:c.[542G>C;549G>A;551C>A;566C>A;568T>A;595T>A] | ENSP00000462823.1:p.[Arg181Thr;Thr183=;Pro184His;Ser189Tyr;Cy... | |
| ENST00000573283.7:c.[501G>C;508G>A;510C>A;525C>A;527T>A;554T>A] MANE Select | ENSP00000458435.1:p.[Glu167Asp;Ala170Thr;Ala170=;Ile175=;Leu1... | |
| ENST00000574671.6:n.[901G>C;908G>A;910C>A;925C>A;927T>A;954T>A] | ||
| ENST00000575659.6:c.[501G>C;508G>A;510C>A;525C>A;527T>A;554T>A] | ENSP00000459119.2:p.[Glu167Asp;Ala170Lys;Ile175=;Leu176Gln;Le... | |
| ENST00000575994.6:c.[501G>C;508G>A;510C>A;525C>A;527T>A;554T>A] | ENSP00000460464.2:p.[Glu167Asp;Ala170Thr;Ala170=;Ile176Ter] | |
| ENST00000576214.3:n.[802G>C;809G>A;811C>A;826C>A;828T>A;855T>A] | ||
| ENST00000576544.6:c.[501G>C;508G>A;510C>A;525C>A;527T>A;554T>A] | ENSP00000461672.1:p.[Glu167Asp;Ala170Thr;Ile175=;Leu176Gln;Le... | |
| ENST00000615544.5:c.[501G>C;508G>A;510C>A;525C>A;527T>A;554T>A] | ENSP00000477968.1:p.[Glu167Asp;Ala170Thr;Ala170=;Leu176Lys;Le... | |
| ENST00000644774.2:c.[474G>C;481G>A;483C>A;498C>A;500T>A;527T>A] | ENSP00000493648.2:p.[Glu158Asp;Ala161Thr;Ala161=;Ile166=;Leu1... | |
| ENST00000679410.1:n.[625G>C;632G>A;634C>A;649C>A;651T>A;678T>A] | ||
| ENST00000679480.1:c.[501G>C;508G>A;510C>A;525C>A;527T>A;554T>A] | ENSP00000506201.1:p.[Glu167Asp;Ala170Thr;Ala170=;Leu176Gln;Le... | |
| ENST00000679535.1:n.[802G>C;809G>A;811C>A;826C>A;828T>A;855T>A] | ||
| ENST00000679778.1:c.[501G>C;508G>A;510C>A;525C>A;527T>A;554T>A] | ENSP00000505235.1:p.[Glu167Asp;Ala170Thr;Ile175=;Leu176Gln;Le... | |
| ENST00000680227.1:c.[501G>C;508G>A;510C>A;525C>A;527T>A;554T>A] | ENSP00000506253.1:p.[Glu167Asp;Ala170Thr;Ala170=;Ile175=;Leu1... | |
| ENST00000680727.1:c.[501G>C;508G>A;510C>A;525C>A;527T>A;554T>A] | ENSP00000505193.1:p.[Glu167Asp;Ala170Thr;Ala170=;Ile175=;Leu1... | |
| ENST00000681052.1:c.[501G>C;508G>A;510C>A;525C>A;527T>A;554T>A] | ENSP00000505060.1:p.[Glu167Asp;Ala170Thr;Ala170=;Leu176Gln;Le... | |
| ENST00000681092.1:c.[*305G>C;*312G>A;*314C>A;*329C>A;*331T>A;*358T>A] | ENSP00000506720.1:n.[*305G>C;*312G>A;*314C>A;*329C>A;*331T>A;... | |
| ENST00000681842.1:c.[501G>C;508G>A;510C>A;525C>A;527T>A;554T>A] | ENSP00000506126.1:p.[Glu167Asp;Ala170Thr;Ala170=;Ile175=;Leu1... | |
| ENST00000331925.6:c.[501G>C;508G>A;510C>A;525C>A;527T>A;554T>A] | ENSP00000331514.2:p.[Glu167Asp;Ala170Thr;Ala170=;Ile175=;Leu1... | |
| ENST00000571691.5:c.[474G>C;481G>A;483C>A;498C>A;500T>A;527T>A] | ENSP00000461407.1:p.[Glu158Asp;Ala161Thr;Ala161=;Ile166=;Leu1... | |
| ENST00000572105.6:c.[542G>C;549G>A;551C>A;566C>A;568T>A;595T>A] | ENSP00000462823.1:p.[Arg181Thr;Thr183=;Pro184His;Ser189Ter] | |
| ENST00000573283.5:c.[501G>C;508G>A;510C>A;525C>A;527T>A;554T>A] | ENSP00000458435.1:p.[Glu167Asp;Ala170Arg;Ile175=;Leu176Gln;Le... | |
| ENST00000574671.5:n.[360G>C;367G>A;369C>A;384C>A;386T>A;413T>A] | ||
| ENST00000575087.5:c.[501G>C;508G>A;510C>A;525C>A;527T>A;554T>A] | ENSP00000459124.1:p.[Glu167Asp;Ala170Thr;Ala170=;Leu176Gln;Le... | |
| ENST00000575659.5:c.[501G>C;508G>A;510C>A;525C>A;527T>A;554T>A] | ENSP00000459119.1:p.[Glu167Asp;Ala170Lys;Ile175=;Leu176Gln;Le... | |
| ENST00000575842.5:c.[501G>C;508G>A;510C>A;525C>A;527T>A;554T>A] | ENSP00000458162.1:p.[Glu167Asp;Ala170Thr;Ile175=;Leu176Gln;Le... | |
| ENST00000575994.5:c.[501G>C;508G>A;510C>A;525C>A;527T>A;554T>A] | ENSP00000460464.1:p.[Glu167Asp;Ala170Thr;Ala170=;Ile176Ter] | |
| ENST00000576209.5:n.[386G>C;393G>A;395C>A;410C>A;412T>A;439T>A] | ||
| ENST00000576214.2:n.[699G>C;706G>A;708C>A;723C>A;725T>A;752T>A] | ||
| ENST00000576544.5:c.[501G>C;508G>A;510C>A;525C>A;527T>A;554T>A] | ENSP00000461672.1:p.[Glu167Asp;Ala170Thr;Ile175=;Leu176Gln;Le... | |
| ENST00000576917.5:n.[554G>C;561G>A;563C>A;578C>A;580T>A;607T>A] | ||
| ENST00000615544.4:c.[501G>C;508G>A;510C>A;525C>A;527T>A;554T>A] | ENSP00000477968.1:p.[Glu167Asp;Ala170Thr;Ile175=;Leu176Gln;Le... | |
| NM_001199954.1:c.[501G>C;508G>A;510C>A;525C>A;527T>A;554T>A] | NP_001186883.1:p.[Glu167Asp;Ala170Thr;Ala170=;Ile175=;Leu176G... | |
| NM_001614.3:c.[501G>C;508G>A;510C>A;525C>A;527T>A;554T>A] | NP_001605.1:p.[Glu167Asp;Ala170Thr;Ile175=;Leu176Gln;Leu185Gl... | |
| NR_037688.1:n.[640G>C;647G>A;649C>A;664C>A;666T>A;693T>A] | ||
| NM_001199954.2:c.[501G>C;508G>A;510C>A;525C>A;527T>A;554T>A] | NP_001186883.1:p.[Glu167Asp;Ala170Thr;Ala170=;Leu176Glu;Leu18... | |
| NM_001614.4:c.[501G>C;508G>A;510C>A;525C>A;527T>A;554T>A] | NP_001605.1:p.[Glu167Asp;Ala170Thr;Ala170=;Ile175=;Leu176Gln;... | |
| NR_037688.2:n.[573G>C;580G>A;582C>A;597C>A;599T>A;626T>A] | ||
| NM_001614.5:c.[501G>C;508G>A;510C>A;525C>A;527T>A;554T>A] MANE Select | NP_001605.1:p.[Glu167Asp;Ala170Thr;Ala170=;Ile175=;Leu176Gln;... | |
| NR_037688.3:n.[573G>C;580G>A;582C>A;597C>A;599T>A;626T>A] | ||
| NM_001199954.3:c.[501G>C;508G>A;510C>A;525C>A;527T>A;554T>A] | NP_001186883.1:p.[Glu167Asp;Ala170Thr;Ala170=;Leu176Glu;Leu18... |