Canonical Allele Identifier: CA2245346720

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425569T= , CM000679.2:g.6425569T=	GRCh38
NC_000017.10:g.6328889T= , CM000679.1:g.6328889T=	GRCh37
NC_000017.9:g.6269613T=	NCBI36
NG_008474.1:g.14631A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.1046A= MANE Select	ENSP00000370521.3:p.Glu349=
ENST00000250087.9:c.857A=	ENSP00000250087.5:p.Glu286=
ENST00000381128.2:c.*918A=	ENSP00000370520.2:n.*918A=
ENST00000381129.7:c.1046A=	ENSP00000370521.3:p.Glu349=
ENST00000570466.5:c.980A=	ENSP00000461287.1:p.Glu327=
ENST00000570584.5:c.251+8350A=
ENST00000574506.5:c.1010A=	ENSP00000458456.1:p.Glu337=
ENST00000575265.5:c.*1017A=	ENSP00000459673.1:n.*1017A=
ENST00000576307.5:c.866A=	ENSP00000459522.1:p.Glu289=
ENST00000576776.5:c.974A=	ENSP00000460827.1:p.Glu325=
ENST00000621374.4:c.*64A=	ENSP00000481337.1:n.*64A=
NM_001033054.2:c.857A=	NP_001028226.1:p.Glu286=
NM_001033055.2:c.866A=	NP_001028227.1:p.Glu289=
NM_001285399.2:c.1010A=	NP_001272328.1:p.Glu337=
NM_001285400.2:c.980A=	NP_001272329.1:p.Glu327=
NM_001285401.2:c.974A=	NP_001272330.1:p.Glu325=
NM_001285402.1:c.929A=	NP_001272331.1:p.Glu310=
NM_014336.4:c.1046A=	NP_055151.3:p.Glu349=
NM_001033054.3:c.857A=	NP_001028226.1:p.Glu286=
NM_001033055.3:c.866A=	NP_001028227.1:p.Glu289=
NM_001285399.3:c.1010A=	NP_001272328.1:p.Glu337=
NM_001285400.3:c.980A=	NP_001272329.1:p.Glu327=
NM_001285401.3:c.974A=	NP_001272330.1:p.Glu325=
NM_001285402.2:c.929A=	NP_001272331.1:p.Glu310=
NM_001285403.3:c.*1017A=	NP_001272332.1:n.*1017A=
NM_014336.5:c.1046A= MANE Select	NP_055151.3:p.Glu349=
NM_001285403.4:c.*1017A=	NP_001272332.1:n.*1017A=