Canonical Allele Identifier: CA2245347843

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6426934C= , CM000679.2:g.6426934C=	GRCh38
NC_000017.10:g.6330254C= , CM000679.1:g.6330254C=	GRCh37
NC_000017.9:g.6270978C=	NCBI36
NG_008474.1:g.13266G=

Transcript Alleles

HGVS	Amino-acid Change
NM_014336.5:c.589G= MANE Select	NP_055151.3:p.Ala197=
ENST00000381129.8:c.589G= MANE Select	ENSP00000370521.3:p.Ala197=
NM_001033054.2:c.400G=	NP_001028226.1:p.Ala134=
NM_001033054.3:c.400G=	NP_001028226.1:p.Ala134=
NM_001033055.2:c.409G=	NP_001028227.1:p.Ala137=
NM_001033055.3:c.409G=	NP_001028227.1:p.Ala137=
NM_001285399.2:c.553G=	NP_001272328.1:p.Ala185=
NM_001285399.3:c.553G=	NP_001272328.1:p.Ala185=
NM_001285400.2:c.523G=	NP_001272329.1:p.Ala175=
NM_001285400.3:c.523G=	NP_001272329.1:p.Ala175=
NM_001285401.2:c.589G=	NP_001272330.1:p.Ala197=
NM_001285401.3:c.589G=	NP_001272330.1:p.Ala197=
NM_001285402.1:c.472G=	NP_001272331.1:p.Ala158=
NM_001285402.2:c.472G=	NP_001272331.1:p.Ala158=
NM_001285403.2:c.565G=	NP_001272332.1:p.Ala189=
NM_001285403.3:c.565G=	NP_001272332.1:p.Ala189=
NM_001285403.4:c.565G=	NP_001272332.1:p.Ala189=
NM_014336.4:c.589G=	NP_055151.3:p.Ala197=
ENST00000250087.9:c.400G=	ENSP00000250087.5:p.Ala134=
ENST00000381128.2:c.*461G=	ENSP00000370520.2:n.*461G=
ENST00000381129.7:c.589G=	ENSP00000370521.3:p.Ala197=
ENST00000570466.5:c.523G=	ENSP00000461287.1:p.Ala175=
ENST00000570584.5:c.251+6985G=
ENST00000571740.5:c.565G=	ENSP00000460134.1:p.Ala189=
ENST00000574506.5:c.553G=	ENSP00000458456.1:p.Ala185=
ENST00000574913.1:c.601G=	ENSP00000460672.1:p.Ala201=
ENST00000575265.5:c.589G=	ENSP00000459673.1:p.Ala197=
ENST00000576307.5:c.409G=	ENSP00000459522.1:p.Ala137=
ENST00000576776.5:c.589G=	ENSP00000460827.1:p.Ala197=
ENST00000621374.4:c.589G=	ENSP00000481337.1:p.Ala197=