Canonical Allele Identifier: CA2245346082
Gene: AIPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425147G= , CM000679.2:g.6425147G= GRCh38
NC_000017.10:g.6328467G= , CM000679.1:g.6328467G= GRCh37
NC_000017.9:g.6269191G= NCBI36
NG_008474.1:g.15053C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000381129.8:c.*313C= MANE Select ENSP00000370521.3:n.*313C=
ENST00000250087.9:c.*313C= ENSP00000250087.5:n.*313C=
ENST00000381128.2:c.*1340C= ENSP00000370520.2:n.*1340C=
ENST00000381129.7:c.*313C= ENSP00000370521.3:n.*313C=
ENST00000570584.5:c.251+8772C=
ENST00000574506.5:c.*313C= ENSP00000458456.1:n.*313C=
NM_001033054.2:c.*313C= NP_001028226.1:n.*313C=
NM_001033055.2:c.*313C= NP_001028227.1:n.*313C=
NM_001285399.2:c.*313C= NP_001272328.1:n.*313C=
NM_001285400.2:c.*313C= NP_001272329.1:n.*313C=
NM_001285401.2:c.*313C= NP_001272330.1:n.*313C=
NM_001285402.1:c.*313C= NP_001272331.1:n.*313C=
NM_014336.4:c.*313C= NP_055151.3:n.*313C=
NM_001033054.3:c.*313C= NP_001028226.1:n.*313C=
NM_001033055.3:c.*313C= NP_001028227.1:n.*313C=
NM_001285399.3:c.*313C= NP_001272328.1:n.*313C=
NM_001285400.3:c.*313C= NP_001272329.1:n.*313C=
NM_001285401.3:c.*313C= NP_001272330.1:n.*313C=
NM_001285402.2:c.*313C= NP_001272331.1:n.*313C=
NM_014336.5:c.*313C= MANE Select NP_055151.3:n.*313C=