Canonical Allele Identifier: CA8328352

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425677G>A , CM000679.2:g.6425677G>A	GRCh38
NC_000017.10:g.6328997G>A , CM000679.1:g.6328997G>A	GRCh37
NC_000017.9:g.6269721G>A	NCBI36
NG_008474.1:g.14523C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.938C>T MANE Select	ENSP00000370521.3:p.Ala313Val
ENST00000250087.9:c.749C>T	ENSP00000250087.5:p.Ala250Val
ENST00000381128.2:c.*810C>T	ENSP00000370520.2:n.*810C>T
ENST00000381129.7:c.938C>T	ENSP00000370521.3:p.Ala313Val
ENST00000570466.5:c.872C>T	ENSP00000461287.1:p.Ala291Val
ENST00000570584.5:c.251+8242C>T
ENST00000574506.5:c.902C>T	ENSP00000458456.1:p.Ala301Val
ENST00000575265.5:c.*909C>T	ENSP00000459673.1:n.*909C>T
ENST00000576307.5:c.758C>T	ENSP00000459522.1:p.Ala253Val
ENST00000576776.5:c.866C>T	ENSP00000460827.1:p.Ala289Val
ENST00000621374.4:c.937C>T	ENSP00000481337.1:p.Arg313Trp
NM_001033054.2:c.749C>T	NP_001028226.1:p.Ala250Val
NM_001033055.2:c.758C>T	NP_001028227.1:p.Ala253Val
NM_001285399.2:c.902C>T	NP_001272328.1:p.Ala301Val
NM_001285400.2:c.872C>T	NP_001272329.1:p.Ala291Val
NM_001285401.2:c.866C>T	NP_001272330.1:p.Ala289Val
NM_001285402.1:c.821C>T	NP_001272331.1:p.Ala274Val
NM_014336.4:c.938C>T	NP_055151.3:p.Ala313Val
NM_001033054.3:c.749C>T	NP_001028226.1:p.Ala250Val
NM_001033055.3:c.758C>T	NP_001028227.1:p.Ala253Val
NM_001285399.3:c.902C>T	NP_001272328.1:p.Ala301Val
NM_001285400.3:c.872C>T	NP_001272329.1:p.Ala291Val
NM_001285401.3:c.866C>T	NP_001272330.1:p.Ala289Val
NM_001285402.2:c.821C>T	NP_001272331.1:p.Ala274Val
NM_001285403.3:c.*909C>T	NP_001272332.1:n.*909C>T
NM_014336.5:c.938C>T MANE Select	NP_055151.3:p.Ala313Val
NM_001285403.4:c.*909C>T	NP_001272332.1:n.*909C>T