Canonical Allele Identifier: CA2245346981

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425710C= , CM000679.2:g.6425710C=	GRCh38
NC_000017.10:g.6329030C= , CM000679.1:g.6329030C=	GRCh37
NC_000017.9:g.6269754C=	NCBI36
NG_008474.1:g.14490G=

Transcript Alleles

HGVS	Amino-acid Change
NM_014336.5:c.905G= MANE Select	NP_055151.3:p.Arg302=
ENST00000381129.8:c.905G= MANE Select	ENSP00000370521.3:p.Arg302=
NM_001033054.2:c.716G=	NP_001028226.1:p.Arg239=
NM_001033054.3:c.716G=	NP_001028226.1:p.Arg239=
NM_001033055.2:c.725G=	NP_001028227.1:p.Arg242=
NM_001033055.3:c.725G=	NP_001028227.1:p.Arg242=
NM_001285399.2:c.869G=	NP_001272328.1:p.Arg290=
NM_001285399.3:c.869G=	NP_001272328.1:p.Arg290=
NM_001285400.2:c.839G=	NP_001272329.1:p.Arg280=
NM_001285400.3:c.839G=	NP_001272329.1:p.Arg280=
NM_001285401.2:c.833G=	NP_001272330.1:p.Arg278=
NM_001285401.3:c.833G=	NP_001272330.1:p.Arg278=
NM_001285402.1:c.788G=	NP_001272331.1:p.Arg263=
NM_001285402.2:c.788G=	NP_001272331.1:p.Arg263=
NM_001285403.3:c.*876G=	NP_001272332.1:n.*876G=
NM_001285403.4:c.*876G=	NP_001272332.1:n.*876G=
NM_014336.4:c.905G=	NP_055151.3:p.Arg302=
ENST00000250087.9:c.716G=	ENSP00000250087.5:p.Arg239=
ENST00000381128.2:c.*777G=	ENSP00000370520.2:n.*777G=
ENST00000381129.7:c.905G=	ENSP00000370521.3:p.Arg302=
ENST00000570466.5:c.839G=	ENSP00000461287.1:p.Arg280=
ENST00000570584.5:c.251+8209G=
ENST00000574506.5:c.869G=	ENSP00000458456.1:p.Arg290=
ENST00000575265.5:c.*876G=	ENSP00000459673.1:n.*876G=
ENST00000576307.5:c.725G=	ENSP00000459522.1:p.Arg242=
ENST00000576776.5:c.833G=	ENSP00000460827.1:p.Arg278=
ENST00000621374.4:c.905G=	ENSP00000481337.1:p.Arg302=