Canonical Allele Identifier: CA2245346934
Gene: AIPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425675C= , CM000679.2:g.6425675C= GRCh38
NC_000017.10:g.6328995C= , CM000679.1:g.6328995C= GRCh37
NC_000017.9:g.6269719C= NCBI36
NG_008474.1:g.14525G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000381129.8:c.940G= MANE Select ENSP00000370521.3:p.Glu314=
ENST00000250087.9:c.751G= ENSP00000250087.5:p.Glu251=
ENST00000381128.2:c.*812G= ENSP00000370520.2:n.*812G=
ENST00000381129.7:c.940G= ENSP00000370521.3:p.Glu314=
ENST00000570466.5:c.874G= ENSP00000461287.1:p.Glu292=
ENST00000570584.5:c.251+8244G=
ENST00000574506.5:c.904G= ENSP00000458456.1:p.Glu302=
ENST00000575265.5:c.*911G= ENSP00000459673.1:n.*911G=
ENST00000576307.5:c.760G= ENSP00000459522.1:p.Glu254=
ENST00000576776.5:c.868G= ENSP00000460827.1:p.Glu290=
ENST00000621374.4:c.939G= ENSP00000481337.1:p.Arg313=
NM_001033054.2:c.751G= NP_001028226.1:p.Glu251=
NM_001033055.2:c.760G= NP_001028227.1:p.Glu254=
NM_001285399.2:c.904G= NP_001272328.1:p.Glu302=
NM_001285400.2:c.874G= NP_001272329.1:p.Glu292=
NM_001285401.2:c.868G= NP_001272330.1:p.Glu290=
NM_001285402.1:c.823G= NP_001272331.1:p.Glu275=
NM_014336.4:c.940G= NP_055151.3:p.Glu314=
NM_001033054.3:c.751G= NP_001028226.1:p.Glu251=
NM_001033055.3:c.760G= NP_001028227.1:p.Glu254=
NM_001285399.3:c.904G= NP_001272328.1:p.Glu302=
NM_001285400.3:c.874G= NP_001272329.1:p.Glu292=
NM_001285401.3:c.868G= NP_001272330.1:p.Glu290=
NM_001285402.2:c.823G= NP_001272331.1:p.Glu275=
NM_001285403.3:c.*911G= NP_001272332.1:n.*911G=
NM_014336.5:c.940G= MANE Select NP_055151.3:p.Glu314=
NM_001285403.4:c.*911G= NP_001272332.1:n.*911G=