Canonical Allele Identifier: CA2245346920

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425660C= , CM000679.2:g.6425660C=	GRCh38
NC_000017.10:g.6328980C= , CM000679.1:g.6328980C=	GRCh37
NC_000017.9:g.6269704C=	NCBI36
NG_008474.1:g.14540G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.955G= MANE Select	ENSP00000370521.3:p.Glu319=
ENST00000250087.9:c.766G=	ENSP00000250087.5:p.Glu256=
ENST00000381128.2:c.*827G=	ENSP00000370520.2:n.*827G=
ENST00000381129.7:c.955G=	ENSP00000370521.3:p.Glu319=
ENST00000570466.5:c.889G=	ENSP00000461287.1:p.Glu297=
ENST00000570584.5:c.251+8259G=
ENST00000574506.5:c.919G=	ENSP00000458456.1:p.Glu307=
ENST00000575265.5:c.*926G=	ENSP00000459673.1:n.*926G=
ENST00000576307.5:c.775G=	ENSP00000459522.1:p.Glu259=
ENST00000576776.5:c.883G=	ENSP00000460827.1:p.Glu295=
ENST00000621374.4:c.954G=	ENSP00000481337.1:p.Arg318=
NM_001033054.2:c.766G=	NP_001028226.1:p.Glu256=
NM_001033055.2:c.775G=	NP_001028227.1:p.Glu259=
NM_001285399.2:c.919G=	NP_001272328.1:p.Glu307=
NM_001285400.2:c.889G=	NP_001272329.1:p.Glu297=
NM_001285401.2:c.883G=	NP_001272330.1:p.Glu295=
NM_001285402.1:c.838G=	NP_001272331.1:p.Glu280=
NM_014336.4:c.955G=	NP_055151.3:p.Glu319=
NM_001033054.3:c.766G=	NP_001028226.1:p.Glu256=
NM_001033055.3:c.775G=	NP_001028227.1:p.Glu259=
NM_001285399.3:c.919G=	NP_001272328.1:p.Glu307=
NM_001285400.3:c.889G=	NP_001272329.1:p.Glu297=
NM_001285401.3:c.883G=	NP_001272330.1:p.Glu295=
NM_001285402.2:c.838G=	NP_001272331.1:p.Glu280=
NM_001285403.3:c.*926G=	NP_001272332.1:n.*926G=
NM_014336.5:c.955G= MANE Select	NP_055151.3:p.Glu319=
NM_001285403.4:c.*926G=	NP_001272332.1:n.*926G=