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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511548T>A;81511554C>G;81511560C=;81511594C>G] , CM000679.2:g.[81511548T>A;81511554C>G;81511560C=;81511594C>G] | GRCh38 |
| NC_000017.10:g.[79478574T>A;79478580C>G;79478586C=;79478620C>G] , CM000679.1:g.[79478574T>A;79478580C>G;79478586C=;79478620C>G] | GRCh37 |
| NC_000017.9:g.[77093169T>A;77093175C>G;77093181C=;77093215C>G] | NCBI36 |
| NG_011433.1:g.[6208G>C;6242G=;6248G>C;6254A>T] |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001614.5:c.[396G>C;430G=;436G>C;442A>T] MANE Select | NP_001605.1:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |
| ENST00000573283.7:c.[396G>C;430G=;436G>C;442A>T] MANE Select | ENSP00000458435.1:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |
| NM_001199954.1:c.[396G>C;430G=;436G>C;442A>T] | NP_001186883.1:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |
| NM_001199954.2:c.[396G>C;430G=;436G>C;442A>T] | NP_001186883.1:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |
| NM_001199954.3:c.[396G>C;430G=;436G>C;442A>T] | NP_001186883.1:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |
| NM_001614.3:c.[396G>C;430G=;436G>C;442A>T] | NP_001605.1:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |
| NM_001614.4:c.[396G>C;430G=;436G>C;442A>T] | NP_001605.1:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |
| NR_037688.1:n.[535G>C;569G=;575G>C;581A>T] | |
| NR_037688.2:n.[468G>C;502G=;508G>C;514A>T] | |
| NR_037688.3:n.[468G>C;502G=;508G>C;514A>T] | |
| ENST00000331925.6:c.[396G>C;430G=;436G>C;442A>T] | ENSP00000331514.2:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |
| ENST00000570382.1:c.[340-16G>C;358G=;364G>C;370A>T] | ENSP00000466346.1:p.[Ala120=;Gly122Arg;Thr124Ser] |
| ENST00000570382.2:c.[396G>C;430G=;436G>C;442A>T] | ENSP00000466346.2:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |
| ENST00000571691.5:c.[369G>C;403G=;409G>C;415A>T] | ENSP00000461407.1:p.[Met123Ile;Ala135=;Gly137Arg;Thr139Ser] |
| ENST00000571691.6:c.[340-16G>C;358G=;364G>C;370A>T] | ENSP00000461407.2:p.[Ala120=;Gly122Arg;Thr124Ser] |
| ENST00000571721.5:c.[396G>C;430G=;436G>C;442A>T] | ENSP00000460660.1:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |
| ENST00000571721.6:c.[396G>C;430G=;436G>C;442A>T] | ENSP00000460660.2:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |
| ENST00000572105.6:c.[437G>C;471G=;477G>C;483A>T] | ENSP00000462823.1:p.[Cys146Ser;Thr157=;Leu159=;Ala161=] |
| ENST00000572105.7:c.[437G>C;471G=;477G>C;483A>T] | ENSP00000462823.1:p.[Cys146Ser;Thr157=;Leu159=;Ala161=] |
| ENST00000573283.5:c.[396G>C;430G=;436G>C;442A>T] | ENSP00000458435.1:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |
| ENST00000574671.5:n.[255G>C;289G=;295G>C;301A>T] | |
| ENST00000574671.6:n.[796G>C;830G=;836G>C;842A>T] | |
| ENST00000575087.5:c.[396G>C;430G=;436G>C;442A>T] | ENSP00000459124.1:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |
| ENST00000575659.5:c.[396G>C;430G=;436G>C;442A>T] | ENSP00000459119.1:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |
| ENST00000575659.6:c.[396G>C;430G=;436G>C;442A>T] | ENSP00000459119.2:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |
| ENST00000575842.5:c.[396G>C;430G=;436G>C;442A>T] | ENSP00000458162.1:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |
| ENST00000575994.5:c.[396G>C;430G=;436G>C;442A>T] | ENSP00000460464.1:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |
| ENST00000575994.6:c.[396G>C;430G=;436G>C;442A>T] | ENSP00000460464.2:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |
| ENST00000576209.5:n.[281G>C;315G=;321G>C;327A>T] | |
| ENST00000576214.2:n.[594G>C;628G=;634G>C;640A>T] | |
| ENST00000576214.3:n.[697G>C;731G=;737G>C;743A>T] | |
| ENST00000576544.5:c.[396G>C;430G=;436G>C;442A>T] | ENSP00000461672.1:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |
| ENST00000576544.6:c.[396G>C;430G=;436G>C;442A>T] | ENSP00000461672.1:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |
| ENST00000576917.5:n.[449G>C;483G=;489G>C;495A>T] | |
| ENST00000615544.4:c.[396G>C;430G=;436G>C;442A>T] | ENSP00000477968.1:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |
| ENST00000615544.5:c.[396G>C;430G=;436G>C;442A>T] | ENSP00000477968.1:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |
| ENST00000644774.2:c.[369G>C;403G=;409G>C;415A>T] | ENSP00000493648.2:p.[Met123Ile;Ala135=;Gly137Arg;Thr139Ser] |
| ENST00000679410.1:n.[520G>C;554G=;560G>C;566A>T] | |
| ENST00000679480.1:c.[396G>C;430G=;436G>C;442A>T] | ENSP00000506201.1:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |
| ENST00000679535.1:n.[697G>C;731G=;737G>C;743A>T] | |
| ENST00000679778.1:c.[396G>C;430G=;436G>C;442A>T] | ENSP00000505235.1:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |
| ENST00000680227.1:c.[396G>C;430G=;436G>C;442A>T] | ENSP00000506253.1:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |
| ENST00000680727.1:c.[396G>C;430G=;436G>C;442A>T] | ENSP00000505193.1:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |
| ENST00000681052.1:c.[396G>C;430G=;436G>C;442A>T] | ENSP00000505060.1:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |
| ENST00000681092.1:c.[*200G>C;*234G=;*240G>C;*246A>T] | ENSP00000506720.1:n.[*200G>C;*234G=;*240G>C;*246A>T] |
| ENST00000681842.1:c.[396G>C;430G=;436G>C;442A>T] | ENSP00000506126.1:p.[Met132Ile;Ala144=;Gly146Arg;Thr148Ser] |