Canonical Allele Identifier: CA2245347665

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6426684A= , CM000679.2:g.6426684A=	GRCh38
NC_000017.10:g.6330004A= , CM000679.1:g.6330004A=	GRCh37
NC_000017.9:g.6270728A=	NCBI36
NG_008474.1:g.13516T=

Transcript Alleles

HGVS	Amino-acid Change
NM_014336.5:c.715T= MANE Select	NP_055151.3:p.Cys239=
ENST00000381129.8:c.715T= MANE Select	ENSP00000370521.3:p.Cys239=
NM_001033054.2:c.526T=	NP_001028226.1:p.Cys176=
NM_001033054.3:c.526T=	NP_001028226.1:p.Cys176=
NM_001033055.2:c.535T=	NP_001028227.1:p.Cys179=
NM_001033055.3:c.535T=	NP_001028227.1:p.Cys179=
NM_001285399.2:c.679T=	NP_001272328.1:p.Cys227=
NM_001285399.3:c.679T=	NP_001272328.1:p.Cys227=
NM_001285400.2:c.649T=	NP_001272329.1:p.Cys217=
NM_001285400.3:c.649T=	NP_001272329.1:p.Cys217=
NM_001285401.2:c.643T=	NP_001272330.1:p.Cys215=
NM_001285401.3:c.643T=	NP_001272330.1:p.Cys215=
NM_001285402.1:c.598T=	NP_001272331.1:p.Cys200=
NM_001285402.2:c.598T=	NP_001272331.1:p.Cys200=
NM_001285403.2:c.691T=	NP_001272332.1:p.Cys231=
NM_001285403.3:c.691T=	NP_001272332.1:p.Cys231=
NM_001285403.4:c.691T=	NP_001272332.1:p.Cys231=
NM_014336.4:c.715T=	NP_055151.3:p.Cys239=
ENST00000250087.9:c.526T=	ENSP00000250087.5:p.Cys176=
ENST00000381128.2:c.*587T=	ENSP00000370520.2:n.*587T=
ENST00000381129.7:c.715T=	ENSP00000370521.3:p.Cys239=
ENST00000570466.5:c.649T=	ENSP00000461287.1:p.Cys217=
ENST00000570584.5:c.251+7235T=
ENST00000571740.5:c.691T=	ENSP00000460134.1:p.Cys231=
ENST00000574506.5:c.679T=	ENSP00000458456.1:p.Cys227=
ENST00000575265.5:c.715T=	ENSP00000459673.1:p.Cys239=
ENST00000576307.5:c.535T=	ENSP00000459522.1:p.Cys179=
ENST00000576776.5:c.643T=	ENSP00000460827.1:p.Cys215=
ENST00000621374.4:c.715T=	ENSP00000481337.1:p.Cys239=