Canonical Allele Identifier: CA2245346863

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425636G= , CM000679.2:g.6425636G=	GRCh38
NC_000017.10:g.6328956G= , CM000679.1:g.6328956G=	GRCh37
NC_000017.9:g.6269680G=	NCBI36
NG_008474.1:g.14564C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.979C= MANE Select	ENSP00000370521.3:p.Leu327=
ENST00000250087.9:c.790C=	ENSP00000250087.5:p.Leu264=
ENST00000381128.2:c.*851C=	ENSP00000370520.2:n.*851C=
ENST00000381129.7:c.979C=	ENSP00000370521.3:p.Leu327=
ENST00000570466.5:c.913C=	ENSP00000461287.1:p.Leu305=
ENST00000570584.5:c.251+8283C=
ENST00000574506.5:c.943C=	ENSP00000458456.1:p.Leu315=
ENST00000575265.5:c.*950C=	ENSP00000459673.1:n.*950C=
ENST00000576307.5:c.799C=	ENSP00000459522.1:p.Leu267=
ENST00000576776.5:c.907C=	ENSP00000460827.1:p.Leu303=
ENST00000621374.4:c.978C=	ENSP00000481337.1:p.Cys326=
NM_001033054.2:c.790C=	NP_001028226.1:p.Leu264=
NM_001033055.2:c.799C=	NP_001028227.1:p.Leu267=
NM_001285399.2:c.943C=	NP_001272328.1:p.Leu315=
NM_001285400.2:c.913C=	NP_001272329.1:p.Leu305=
NM_001285401.2:c.907C=	NP_001272330.1:p.Leu303=
NM_001285402.1:c.862C=	NP_001272331.1:p.Leu288=
NM_014336.4:c.979C=	NP_055151.3:p.Leu327=
NM_001033054.3:c.790C=	NP_001028226.1:p.Leu264=
NM_001033055.3:c.799C=	NP_001028227.1:p.Leu267=
NM_001285399.3:c.943C=	NP_001272328.1:p.Leu315=
NM_001285400.3:c.913C=	NP_001272329.1:p.Leu305=
NM_001285401.3:c.907C=	NP_001272330.1:p.Leu303=
NM_001285402.2:c.862C=	NP_001272331.1:p.Leu288=
NM_001285403.3:c.*950C=	NP_001272332.1:n.*950C=
NM_014336.5:c.979C= MANE Select	NP_055151.3:p.Leu327=
NM_001285403.4:c.*950C=	NP_001272332.1:n.*950C=