Canonical Allele Identifier: CA2245346485

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425470A= , CM000679.2:g.6425470A=	GRCh38
NC_000017.10:g.6328790A= , CM000679.1:g.6328790A=	GRCh37
NC_000017.9:g.6269514A=	NCBI36
NG_008474.1:g.14730T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.1145T= MANE Select	ENSP00000370521.3:p.Leu382=
ENST00000250087.9:c.956T=	ENSP00000250087.5:p.Leu319=
ENST00000381128.2:c.*1017T=	ENSP00000370520.2:n.*1017T=
ENST00000381129.7:c.1145T=	ENSP00000370521.3:p.Leu382=
ENST00000570466.5:c.1079T=	ENSP00000461287.1:p.Leu360=
ENST00000570584.5:c.251+8449T=
ENST00000574506.5:c.1109T=	ENSP00000458456.1:p.Leu370=
ENST00000575265.5:c.*1116T=	ENSP00000459673.1:n.*1116T=
ENST00000576307.5:c.965T=	ENSP00000459522.1:p.Leu322=
ENST00000576776.5:c.1073T=	ENSP00000460827.1:p.Leu358=
ENST00000621374.4:c.*163T=	ENSP00000481337.1:n.*163T=
NM_001033054.2:c.956T=	NP_001028226.1:p.Leu319=
NM_001033055.2:c.965T=	NP_001028227.1:p.Leu322=
NM_001285399.2:c.1109T=	NP_001272328.1:p.Leu370=
NM_001285400.2:c.1079T=	NP_001272329.1:p.Leu360=
NM_001285401.2:c.1073T=	NP_001272330.1:p.Leu358=
NM_001285402.1:c.1028T=	NP_001272331.1:p.Leu343=
NM_014336.4:c.1145T=	NP_055151.3:p.Leu382=
NM_001033054.3:c.956T=	NP_001028226.1:p.Leu319=
NM_001033055.3:c.965T=	NP_001028227.1:p.Leu322=
NM_001285399.3:c.1109T=	NP_001272328.1:p.Leu370=
NM_001285400.3:c.1079T=	NP_001272329.1:p.Leu360=
NM_001285401.3:c.1073T=	NP_001272330.1:p.Leu358=
NM_001285402.2:c.1028T=	NP_001272331.1:p.Leu343=
NM_001285403.3:c.*1116T=	NP_001272332.1:n.*1116T=
NM_014336.5:c.1145T= MANE Select	NP_055151.3:p.Leu382=
NM_001285403.4:c.*1116T=	NP_001272332.1:n.*1116T=