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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511495G>C;81511501C>A;81511512T>G;81511553C>G] , CM000679.2:g.[81511495G>C;81511501C>A;81511512T>G;81511553C>G] | GRCh38 |
| NC_000017.10:g.[79478521G>C;79478527C>A;79478538T>G;79478579C>G] , CM000679.1:g.[79478521G>C;79478527C>A;79478538T>G;79478579C>G] | GRCh37 |
| NC_000017.9:g.[77093116G>C;77093122C>A;77093133T>G;77093174C>G] | NCBI36 |
| NG_011433.1:g.[6249G>C;6290A>C;6301G>T;6307C>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[437G>C;478A>C;489G>T;495C>G] | ENSP00000466346.2:p.[Gly146Ala;Thr160Pro;Val163=;Ile165Met] | |
| ENST00000571691.6:c.[365G>C;406A>C;417G>T;423C>G] | ENSP00000461407.2:p.[Gly122Ala;Thr136Pro;Val139=;Ile141Met] | |
| ENST00000571721.6:c.[437G>C;478A>C;489G>T;495C>G] | ENSP00000460660.2:p.[Gly146Ala;Thr160Pro;Val163=;Ile165Met] | |
| ENST00000572105.7:c.[478G>C;519A>C;530G>T;536C>G] | ENSP00000462823.1:p.[Gly160Arg;Ser173=;Cys177Phe;Ser179Cys] | |
| ENST00000573283.7:c.[437G>C;478A>C;489G>T;495C>G] MANE Select | ENSP00000458435.1:p.[Gly146Ala;Thr160Pro;Val163=;Ile165Met] | |
| ENST00000574671.6:n.[837G>C;878A>C;889G>T;895C>G] | ||
| ENST00000575659.6:c.[437G>C;478A>C;489G>T;495C>G] | ENSP00000459119.2:p.[Gly146Ala;Thr160Pro;Val163=;Ile165Met] | |
| ENST00000575994.6:c.[437G>C;478A>C;489G>T;495C>G] | ENSP00000460464.2:p.[Gly146Ala;Thr160Pro;Val163=;Ile165Met] | |
| ENST00000576214.3:n.[738G>C;779A>C;790G>T;796C>G] | ||
| ENST00000576544.6:c.[437G>C;478A>C;489G>T;495C>G] | ENSP00000461672.1:p.[Gly146Ala;Thr160Pro;Val163=;Ile165Met] | |
| ENST00000615544.5:c.[437G>C;478A>C;489G>T;495C>G] | ENSP00000477968.1:p.[Gly146Ala;Thr160Pro;Val163=;Ile165Met] | |
| ENST00000644774.2:c.[410G>C;451A>C;462G>T;468C>G] | ENSP00000493648.2:p.[Gly137Ala;Thr151Pro;Val154=;Ile156Met] | |
| ENST00000679410.1:n.[561G>C;602A>C;613G>T;619C>G] | ||
| ENST00000679480.1:c.[437G>C;478A>C;489G>T;495C>G] | ENSP00000506201.1:p.[Gly146Ala;Thr160Pro;Val163=;Ile165Met] | |
| ENST00000679535.1:n.[738G>C;779A>C;790G>T;796C>G] | ||
| ENST00000679778.1:c.[437G>C;478A>C;489G>T;495C>G] | ENSP00000505235.1:p.[Gly146Ala;Thr160Pro;Val163=;Ile165Met] | |
| ENST00000680227.1:c.[437G>C;478A>C;489G>T;495C>G] | ENSP00000506253.1:p.[Gly146Ala;Thr160Pro;Val163=;Ile165Met] | |
| ENST00000680727.1:c.[437G>C;478A>C;489G>T;495C>G] | ENSP00000505193.1:p.[Gly146Ala;Thr160Pro;Val163=;Ile165Met] | |
| ENST00000681052.1:c.[437G>C;478A>C;489G>T;495C>G] | ENSP00000505060.1:p.[Gly146Ala;Thr160Pro;Val163=;Ile165Met] | |
| ENST00000681092.1:c.[*241G>C;*282A>C;*293G>T;*299C>G] | ENSP00000506720.1:n.[*241G>C;*282A>C;*293G>T;*299C>G] | |
| ENST00000681842.1:c.[437G>C;478A>C;489G>T;495C>G] | ENSP00000506126.1:p.[Gly146Ala;Thr160Pro;Val163=;Ile165Met] | |
| ENST00000331925.6:c.[437G>C;478A>C;489G>T;495C>G] | ENSP00000331514.2:p.[Gly146Ala;Thr160Pro;Val163=;Ile165Met] | |
| ENST00000571691.5:c.[410G>C;451A>C;462G>T;468C>G] | ENSP00000461407.1:p.[Gly137Ala;Thr151Pro;Val154=;Ile156Met] | |
| ENST00000572105.6:c.[478G>C;519A>C;530G>T;536C>G] | ENSP00000462823.1:p.[Gly160Arg;Ser173=;Cys177Phe;Ser179Cys] | |
| ENST00000573283.5:c.[437G>C;478A>C;489G>T;495C>G] | ENSP00000458435.1:p.[Gly146Ala;Thr160Pro;Val163=;Ile165Met] | |
| ENST00000574671.5:n.[296G>C;337A>C;348G>T;354C>G] | ||
| ENST00000575087.5:c.[437G>C;478A>C;489G>T;495C>G] | ENSP00000459124.1:p.[Gly146Ala;Thr160Pro;Val163=;Ile165Met] | |
| ENST00000575659.5:c.[437G>C;478A>C;489G>T;495C>G] | ENSP00000459119.1:p.[Gly146Ala;Thr160Pro;Val163=;Ile165Met] | |
| ENST00000575842.5:c.[437G>C;478A>C;489G>T;495C>G] | ENSP00000458162.1:p.[Gly146Ala;Thr160Pro;Val163=;Ile165Met] | |
| ENST00000575994.5:c.[437G>C;478A>C;489G>T;495C>G] | ENSP00000460464.1:p.[Gly146Ala;Thr160Pro;Val163=;Ile165Met] | |
| ENST00000576209.5:n.[322G>C;363A>C;374G>T;380C>G] | ||
| ENST00000576214.2:n.[635G>C;676A>C;687G>T;693C>G] | ||
| ENST00000576544.5:c.[437G>C;478A>C;489G>T;495C>G] | ENSP00000461672.1:p.[Gly146Ala;Thr160Pro;Val163=;Ile165Met] | |
| ENST00000576917.5:n.[490G>C;531A>C;542G>T;548C>G] | ||
| ENST00000615544.4:c.[437G>C;478A>C;489G>T;495C>G] | ENSP00000477968.1:p.[Gly146Ala;Thr160Pro;Val163=;Ile165Met] | |
| NM_001199954.1:c.[437G>C;478A>C;489G>T;495C>G] | NP_001186883.1:p.[Gly146Ala;Thr160Pro;Val163=;Ile165Met] | |
| NM_001614.3:c.[437G>C;478A>C;489G>T;495C>G] | NP_001605.1:p.[Gly146Ala;Thr160Pro;Val163=;Ile165Met] | |
| NR_037688.1:n.[576G>C;617A>C;628G>T;634C>G] | ||
| NM_001199954.2:c.[437G>C;478A>C;489G>T;495C>G] | NP_001186883.1:p.[Gly146Ala;Thr160Pro;Val163=;Ile165Met] | |
| NM_001614.4:c.[437G>C;478A>C;489G>T;495C>G] | NP_001605.1:p.[Gly146Ala;Thr160Pro;Val163=;Ile165Met] | |
| NR_037688.2:n.[509G>C;550A>C;561G>T;567C>G] | ||
| NM_001614.5:c.[437G>C;478A>C;489G>T;495C>G] MANE Select | NP_001605.1:p.[Gly146Ala;Thr160Pro;Val163=;Ile165Met] | |
| NR_037688.3:n.[509G>C;550A>C;561G>T;567C>G] | ||
| NM_001199954.3:c.[437G>C;478A>C;489G>T;495C>G] | NP_001186883.1:p.[Gly146Ala;Thr160Pro;Val163=;Ile165Met] |