Canonical Allele Identifier: CA2245346577

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425512G= , CM000679.2:g.6425512G=	GRCh38
NC_000017.10:g.6328832G= , CM000679.1:g.6328832G=	GRCh37
NC_000017.9:g.6269556G=	NCBI36
NG_008474.1:g.14688C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1103C= MANE Select	ENSP00000370521.3:p.Ala368=
ENST00000250087.9:c.914C=	ENSP00000250087.5:p.Ala305=
ENST00000381128.2:c.*975C=	ENSP00000370520.2:n.*975C=
ENST00000381129.7:c.1103C=	ENSP00000370521.3:p.Ala368=
ENST00000570466.5:c.1037C=	ENSP00000461287.1:p.Ala346=
ENST00000570584.5:c.251+8407C=
ENST00000574506.5:c.1067C=	ENSP00000458456.1:p.Ala356=
ENST00000575265.5:c.*1074C=	ENSP00000459673.1:n.*1074C=
ENST00000576307.5:c.923C=	ENSP00000459522.1:p.Ala308=
ENST00000576776.5:c.1031C=	ENSP00000460827.1:p.Ala344=
ENST00000621374.4:c.*121C=	ENSP00000481337.1:n.*121C=
NM_001033054.2:c.914C=	NP_001028226.1:p.Ala305=
NM_001033055.2:c.923C=	NP_001028227.1:p.Ala308=
NM_001285399.2:c.1067C=	NP_001272328.1:p.Ala356=
NM_001285400.2:c.1037C=	NP_001272329.1:p.Ala346=
NM_001285401.2:c.1031C=	NP_001272330.1:p.Ala344=
NM_001285402.1:c.986C=	NP_001272331.1:p.Ala329=
NM_014336.4:c.1103C=	NP_055151.3:p.Ala368=
NM_001033054.3:c.914C=	NP_001028226.1:p.Ala305=
NM_001033055.3:c.923C=	NP_001028227.1:p.Ala308=
NM_001285399.3:c.1067C=	NP_001272328.1:p.Ala356=
NM_001285400.3:c.1037C=	NP_001272329.1:p.Ala346=
NM_001285401.3:c.1031C=	NP_001272330.1:p.Ala344=
NM_001285402.2:c.986C=	NP_001272331.1:p.Ala329=
NM_001285403.3:c.*1074C=	NP_001272332.1:n.*1074C=
NM_014336.5:c.1103C= MANE Select	NP_055151.3:p.Ala368=
NM_001285403.4:c.*1074C=	NP_001272332.1:n.*1074C=