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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511587C>G;81511589A>T;81511596T>G;81511609G>A;81511621C>A] , CM000679.2:g.[81511587C>G;81511589A>T;81511596T>G;81511609G>A;81511621C>A] | GRCh38 |
| NC_000017.10:g.[79478613C>G;79478615A>T;79478622T>G;79478635G>A;79478647C>A] , CM000679.1:g.[79478613C>G;79478615A>T;79478622T>G;79478635G>A;79478647C>A] | GRCh37 |
| NC_000017.9:g.[77093208C>G;77093210A>T;77093217T>G;77093230G>A;77093242C>A] | NCBI36 |
| NG_011433.1:g.[6181G>T;6193C>T;6206A>C;6213T>A;6215G>C] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[369G>T;381C>T;394A>C;401T>A;403G>C] | ENSP00000466346.2:p.[Met123Ile;Phe127=;Met132Leu;Val134_Ala13... | |
| ENST00000571691.6:c.[340-43G>T;340-31C>T;340-18A>C;340-11T>A;340-9G>C] | ENSP00000461407.2:n.[340-43G>T;340-31C>T;340-18A>C;340-11T>A;... | |
| ENST00000571721.6:c.[369G>T;381C>T;394A>C;401T>A;403G>C] | ENSP00000460660.2:p.[Met123Ile;Phe127=;Met132Leu;Val134_Ala13... | |
| ENST00000572105.7:c.[410G>T;422C>T;435A>C;442T>A;444G>C] | ENSP00000462823.1:p.[Cys137Phe;Ser141Leu;Pro145=;Trp148Ser] | |
| ENST00000573283.7:c.[369G>T;381C>T;394A>C;401T>A;403G>C] MANE Select | ENSP00000458435.1:p.[Met123Ile;Phe127=;Met132Leu;Val134_Ala13... | |
| ENST00000574671.6:n.[769G>T;781C>T;794A>C;801T>A;803G>C] | ||
| ENST00000575659.6:c.[369G>T;381C>T;394A>C;401T>A;403G>C] | ENSP00000459119.2:p.[Met123Ile;Phe127=;Met132Leu;Val134Glu;Al... | |
| ENST00000575994.6:c.[369G>T;381C>T;394A>C;401T>A;403G>C] | ENSP00000460464.2:p.[Met123Ile;Phe127=;Met132Leu;Val134Glu;Al... | |
| ENST00000576214.3:n.[670G>T;682C>T;695A>C;702T>A;704G>C] | ||
| ENST00000576544.6:c.[369G>T;381C>T;394A>C;401T>A;403G>C] | ENSP00000461672.1:p.[Met123Ile;Phe127=;Met132Leu;Val134Glu;Al... | |
| ENST00000615544.5:c.[369G>T;381C>T;394A>C;401T>A;403G>C] | ENSP00000477968.1:p.[Met123Ile;Phe127=;Met132Leu;Val134Glu;Al... | |
| ENST00000644774.2:c.[342G>T;354C>T;367A>C;374T>A;376G>C] | ENSP00000493648.2:p.[Met114Ile;Phe118=;Met123Leu;Val125_Ala12... | |
| ENST00000679410.1:n.[493G>T;505C>T;518A>C;525T>A;527G>C] | ||
| ENST00000679480.1:c.[369G>T;381C>T;394A>C;401T>A;403G>C] | ENSP00000506201.1:p.[Met123Ile;Phe127=;Met132Leu;Val134Glu;Al... | |
| ENST00000679535.1:n.[670G>T;682C>T;695A>C;702T>A;704G>C] | ||
| ENST00000679778.1:c.[369G>T;381C>T;394A>C;401T>A;403G>C] | ENSP00000505235.1:p.[Met123Ile;Phe127=;Met132Leu;Val134Glu;Al... | |
| ENST00000680227.1:c.[369G>T;381C>T;394A>C;401T>A;403G>C] | ENSP00000506253.1:p.[Met123Ile;Phe127=;Met132Leu;Val134_Ala13... | |
| ENST00000680727.1:c.[369G>T;381C>T;394A>C;401T>A;403G>C] | ENSP00000505193.1:p.[Met123Ile;Phe127=;Met132Leu;Val134_Ala13... | |
| ENST00000681052.1:c.[369G>T;381C>T;394A>C;401T>A;403G>C] | ENSP00000505060.1:p.[Met123Ile;Phe127=;Met132Leu;Val134Glu;Al... | |
| ENST00000681092.1:c.[*173G>T;*185C>T;*198A>C;*205T>A;*207G>C] | ENSP00000506720.1:n.[*173G>T;*185C>T;*198A>C;*205T>A;*207G>C]... | |
| ENST00000681842.1:c.[369G>T;381C>T;394A>C;401T>A;403G>C] | ENSP00000506126.1:p.[Met123Ile;Phe127=;Met132Leu;Val134_Ala13... | |
| ENST00000331925.6:c.[369G>T;381C>T;394A>C;401T>A;403G>C] | ENSP00000331514.2:p.[Met123Ile;Phe127=;Met132Leu;Val134_Ala13... | |
| ENST00000570382.1:c.[340-43G>T;340-31C>T;340-18A>C;340-11T>A;340-9G>C] | ENSP00000466346.1:n.[340-43G>T;340-31C>T;340-18A>C;340-11T>A;... | |
| ENST00000571691.5:c.[342G>T;354C>T;367A>C;374T>A;376G>C] | ENSP00000461407.1:p.[Met114Ile;Phe118=;Met123Leu;Val125_Ala12... | |
| ENST00000571721.5:c.[369G>T;381C>T;394A>C;401T>A;403G>C] | ENSP00000460660.1:p.[Met123Ile;Phe127=;Met132Leu;Val134_Ala13... | |
| ENST00000572105.6:c.[410G>T;422C>T;435A>C;442T>A;444G>C] | ENSP00000462823.1:p.[Cys137Phe;Ser141Leu;Pro145=;Trp148Arg;Tr... | |
| ENST00000573283.5:c.[369G>T;381C>T;394A>C;401T>A;403G>C] | ENSP00000458435.1:p.[Met123Ile;Phe127=;Met132Leu;Val134Glu;Al... | |
| ENST00000574671.5:n.[228G>T;240C>T;253A>C;260T>A;262G>C] | ||
| ENST00000575087.5:c.[369G>T;381C>T;394A>C;401T>A;403G>C] | ENSP00000459124.1:p.[Met123Ile;Phe127=;Met132Leu;Val134Glu;Al... | |
| ENST00000575659.5:c.[369G>T;381C>T;394A>C;401T>A;403G>C] | ENSP00000459119.1:p.[Met123Ile;Phe127=;Met132Leu;Val134Glu;Al... | |
| ENST00000575842.5:c.[369G>T;381C>T;394A>C;401T>A;403G>C] | ENSP00000458162.1:p.[Met123Ile;Phe127=;Met132Leu;Val134Glu;Al... | |
| ENST00000575994.5:c.[369G>T;381C>T;394A>C;401T>A;403G>C] | ENSP00000460464.1:p.[Met123Ile;Phe127=;Met132Leu;Val134Glu;Al... | |
| ENST00000576209.5:n.[254G>T;266C>T;279A>C;286T>A;288G>C] | ||
| ENST00000576214.2:n.[567G>T;579C>T;592A>C;599T>A;601G>C] | ||
| ENST00000576544.5:c.[369G>T;381C>T;394A>C;401T>A;403G>C] | ENSP00000461672.1:p.[Met123Ile;Phe127=;Met132Leu;Val134Glu;Al... | |
| ENST00000576917.5:n.[422G>T;434C>T;447A>C;454T>A;456G>C] | ||
| ENST00000615544.4:c.[369G>T;381C>T;394A>C;401T>A;403G>C] | ENSP00000477968.1:p.[Met123Ile;Phe127=;Met132Leu;Val134Glu;Al... | |
| NM_001199954.1:c.[369G>T;381C>T;394A>C;401T>A;403G>C] | NP_001186883.1:p.[Met123Ile;Phe127=;Met132Leu;Val134_Ala135de... | |
| NM_001614.3:c.[369G>T;381C>T;394A>C;401T>A;403G>C] | NP_001605.1:p.[Met123Ile;Phe127=;Met132Leu;Val134Glu;Ala135Pr... | |
| NR_037688.1:n.[508G>T;520C>T;533A>C;540T>A;542G>C] | ||
| NM_001199954.2:c.[369G>T;381C>T;394A>C;401T>A;403G>C] | NP_001186883.1:p.[Met123Ile;Phe127=;Met132Leu;Val134Glu;Ala13... | |
| NM_001614.4:c.[369G>T;381C>T;394A>C;401T>A;403G>C] | NP_001605.1:p.[Met123Ile;Phe127=;Met132Leu;Val134_Ala135delin... | |
| NR_037688.2:n.[441G>T;453C>T;466A>C;473T>A;475G>C] | ||
| NM_001614.5:c.[369G>T;381C>T;394A>C;401T>A;403G>C] MANE Select | NP_001605.1:p.[Met123Ile;Phe127=;Met132Leu;Val134_Ala135delin... | |
| NR_037688.3:n.[441G>T;453C>T;466A>C;473T>A;475G>C] | ||
| NM_001199954.3:c.[369G>T;381C>T;394A>C;401T>A;403G>C] | NP_001186883.1:p.[Met123Ile;Phe127=;Met132Leu;Val134Glu;Ala13... |