Canonical Allele Identifier: CA2245347834

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6426906A= , CM000679.2:g.6426906A=	GRCh38
NC_000017.10:g.6330226A= , CM000679.1:g.6330226A=	GRCh37
NC_000017.9:g.6270950A=	NCBI36
NG_008474.1:g.13294T=

Transcript Alleles

HGVS	Amino-acid Change
NM_014336.5:c.617T= MANE Select	NP_055151.3:p.Ile206=
ENST00000381129.8:c.617T= MANE Select	ENSP00000370521.3:p.Ile206=
NM_001033054.2:c.428T=	NP_001028226.1:p.Ile143=
NM_001033054.3:c.428T=	NP_001028226.1:p.Ile143=
NM_001033055.2:c.437T=	NP_001028227.1:p.Ile146=
NM_001033055.3:c.437T=	NP_001028227.1:p.Ile146=
NM_001285399.2:c.581T=	NP_001272328.1:p.Ile194=
NM_001285399.3:c.581T=	NP_001272328.1:p.Ile194=
NM_001285400.2:c.551T=	NP_001272329.1:p.Ile184=
NM_001285400.3:c.551T=	NP_001272329.1:p.Ile184=
NM_001285401.2:c.617T=	NP_001272330.1:p.Ile206=
NM_001285401.3:c.617T=	NP_001272330.1:p.Ile206=
NM_001285402.1:c.500T=	NP_001272331.1:p.Ile167=
NM_001285402.2:c.500T=	NP_001272331.1:p.Ile167=
NM_001285403.2:c.593T=	NP_001272332.1:p.Ile198=
NM_001285403.3:c.593T=	NP_001272332.1:p.Ile198=
NM_001285403.4:c.593T=	NP_001272332.1:p.Ile198=
NM_014336.4:c.617T=	NP_055151.3:p.Ile206=
ENST00000250087.9:c.428T=	ENSP00000250087.5:p.Ile143=
ENST00000381128.2:c.*489T=	ENSP00000370520.2:n.*489T=
ENST00000381129.7:c.617T=	ENSP00000370521.3:p.Ile206=
ENST00000570466.5:c.551T=	ENSP00000461287.1:p.Ile184=
ENST00000570584.5:c.251+7013T=
ENST00000571740.5:c.593T=	ENSP00000460134.1:p.Ile198=
ENST00000574506.5:c.581T=	ENSP00000458456.1:p.Ile194=
ENST00000574913.1:c.629T=	ENSP00000460672.1:p.Ile210=
ENST00000575265.5:c.617T=	ENSP00000459673.1:p.Ile206=
ENST00000576307.5:c.437T=	ENSP00000459522.1:p.Ile146=
ENST00000576776.5:c.617T=	ENSP00000460827.1:p.Ile206=
ENST00000621374.4:c.617T=	ENSP00000481337.1:p.Ile206=