Canonical Allele Identifier: CA2245346646

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425540A= , CM000679.2:g.6425540A=	GRCh38
NC_000017.10:g.6328860A= , CM000679.1:g.6328860A=	GRCh37
NC_000017.9:g.6269584A=	NCBI36
NG_008474.1:g.14660T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1075T= MANE Select	ENSP00000370521.3:p.Ser359=
ENST00000250087.9:c.886T=	ENSP00000250087.5:p.Ser296=
ENST00000381128.2:c.*947T=	ENSP00000370520.2:n.*947T=
ENST00000381129.7:c.1075T=	ENSP00000370521.3:p.Ser359=
ENST00000570466.5:c.1009T=	ENSP00000461287.1:p.Ser337=
ENST00000570584.5:c.251+8379T=
ENST00000574506.5:c.1039T=	ENSP00000458456.1:p.Ser347=
ENST00000575265.5:c.*1046T=	ENSP00000459673.1:n.*1046T=
ENST00000576307.5:c.895T=	ENSP00000459522.1:p.Ser299=
ENST00000576776.5:c.1003T=	ENSP00000460827.1:p.Ser335=
ENST00000621374.4:c.*93T=	ENSP00000481337.1:n.*93T=
NM_001033054.2:c.886T=	NP_001028226.1:p.Ser296=
NM_001033055.2:c.895T=	NP_001028227.1:p.Ser299=
NM_001285399.2:c.1039T=	NP_001272328.1:p.Ser347=
NM_001285400.2:c.1009T=	NP_001272329.1:p.Ser337=
NM_001285401.2:c.1003T=	NP_001272330.1:p.Ser335=
NM_001285402.1:c.958T=	NP_001272331.1:p.Ser320=
NM_014336.4:c.1075T=	NP_055151.3:p.Ser359=
NM_001033054.3:c.886T=	NP_001028226.1:p.Ser296=
NM_001033055.3:c.895T=	NP_001028227.1:p.Ser299=
NM_001285399.3:c.1039T=	NP_001272328.1:p.Ser347=
NM_001285400.3:c.1009T=	NP_001272329.1:p.Ser337=
NM_001285401.3:c.1003T=	NP_001272330.1:p.Ser335=
NM_001285402.2:c.958T=	NP_001272331.1:p.Ser320=
NM_001285403.3:c.*1046T=	NP_001272332.1:n.*1046T=
NM_014336.5:c.1075T= MANE Select	NP_055151.3:p.Ser359=
NM_001285403.4:c.*1046T=	NP_001272332.1:n.*1046T=