Canonical Allele Identifier: CA2245346625

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425529C= , CM000679.2:g.6425529C=	GRCh38
NC_000017.10:g.6328849C= , CM000679.1:g.6328849C=	GRCh37
NC_000017.9:g.6269573C=	NCBI36
NG_008474.1:g.14671G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1086G= MANE Select	ENSP00000370521.3:p.Leu362=
ENST00000250087.9:c.897G=	ENSP00000250087.5:p.Leu299=
ENST00000381128.2:c.*958G=	ENSP00000370520.2:n.*958G=
ENST00000381129.7:c.1086G=	ENSP00000370521.3:p.Leu362=
ENST00000570466.5:c.1020G=	ENSP00000461287.1:p.Leu340=
ENST00000570584.5:c.251+8390G=
ENST00000574506.5:c.1050G=	ENSP00000458456.1:p.Leu350=
ENST00000575265.5:c.*1057G=	ENSP00000459673.1:n.*1057G=
ENST00000576307.5:c.906G=	ENSP00000459522.1:p.Leu302=
ENST00000576776.5:c.1014G=	ENSP00000460827.1:p.Leu338=
ENST00000621374.4:c.*104G=	ENSP00000481337.1:n.*104G=
NM_001033054.2:c.897G=	NP_001028226.1:p.Leu299=
NM_001033055.2:c.906G=	NP_001028227.1:p.Leu302=
NM_001285399.2:c.1050G=	NP_001272328.1:p.Leu350=
NM_001285400.2:c.1020G=	NP_001272329.1:p.Leu340=
NM_001285401.2:c.1014G=	NP_001272330.1:p.Leu338=
NM_001285402.1:c.969G=	NP_001272331.1:p.Leu323=
NM_014336.4:c.1086G=	NP_055151.3:p.Leu362=
NM_001033054.3:c.897G=	NP_001028226.1:p.Leu299=
NM_001033055.3:c.906G=	NP_001028227.1:p.Leu302=
NM_001285399.3:c.1050G=	NP_001272328.1:p.Leu350=
NM_001285400.3:c.1020G=	NP_001272329.1:p.Leu340=
NM_001285401.3:c.1014G=	NP_001272330.1:p.Leu338=
NM_001285402.2:c.969G=	NP_001272331.1:p.Leu323=
NM_001285403.3:c.*1057G=	NP_001272332.1:n.*1057G=
NM_014336.5:c.1086G= MANE Select	NP_055151.3:p.Leu362=
NM_001285403.4:c.*1057G=	NP_001272332.1:n.*1057G=