Canonical Allele Identifier: CA2245346853

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425630G= , CM000679.2:g.6425630G=	GRCh38
NC_000017.10:g.6328950G= , CM000679.1:g.6328950G=	GRCh37
NC_000017.9:g.6269674G=	NCBI36
NG_008474.1:g.14570C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.985C= MANE Select	ENSP00000370521.3:p.Gln329=
ENST00000250087.9:c.796C=	ENSP00000250087.5:p.Gln266=
ENST00000381128.2:c.*857C=	ENSP00000370520.2:n.*857C=
ENST00000381129.7:c.985C=	ENSP00000370521.3:p.Gln329=
ENST00000570466.5:c.919C=	ENSP00000461287.1:p.Gln307=
ENST00000570584.5:c.251+8289C=
ENST00000574506.5:c.949C=	ENSP00000458456.1:p.Gln317=
ENST00000575265.5:c.*956C=	ENSP00000459673.1:n.*956C=
ENST00000576307.5:c.805C=	ENSP00000459522.1:p.Gln269=
ENST00000576776.5:c.913C=	ENSP00000460827.1:p.Gln305=
ENST00000621374.4:c.*3C=	ENSP00000481337.1:n.*3C=
NM_001033054.2:c.796C=	NP_001028226.1:p.Gln266=
NM_001033055.2:c.805C=	NP_001028227.1:p.Gln269=
NM_001285399.2:c.949C=	NP_001272328.1:p.Gln317=
NM_001285400.2:c.919C=	NP_001272329.1:p.Gln307=
NM_001285401.2:c.913C=	NP_001272330.1:p.Gln305=
NM_001285402.1:c.868C=	NP_001272331.1:p.Gln290=
NM_014336.4:c.985C=	NP_055151.3:p.Gln329=
NM_001033054.3:c.796C=	NP_001028226.1:p.Gln266=
NM_001033055.3:c.805C=	NP_001028227.1:p.Gln269=
NM_001285399.3:c.949C=	NP_001272328.1:p.Gln317=
NM_001285400.3:c.919C=	NP_001272329.1:p.Gln307=
NM_001285401.3:c.913C=	NP_001272330.1:p.Gln305=
NM_001285402.2:c.868C=	NP_001272331.1:p.Gln290=
NM_001285403.3:c.*956C=	NP_001272332.1:n.*956C=
NM_014336.5:c.985C= MANE Select	NP_055151.3:p.Gln329=
NM_001285403.4:c.*956C=	NP_001272332.1:n.*956C=