Canonical Allele Identifier: CA2245347581
Gene: AIPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6426615C= , CM000679.2:g.6426615C= GRCh38
NC_000017.10:g.6329935C= , CM000679.1:g.6329935C= GRCh37
NC_000017.9:g.6270659C= NCBI36
NG_008474.1:g.13585G=

Transcript Alleles

HGVS Amino-acid Change
NM_014336.5:c.784G= MANE Select NP_055151.3:p.Gly262=
ENST00000381129.8:c.784G= MANE Select ENSP00000370521.3:p.Gly262=
NM_001033054.2:c.595G= NP_001028226.1:p.Gly199=
NM_001033054.3:c.595G= NP_001028226.1:p.Gly199=
NM_001033055.2:c.604G= NP_001028227.1:p.Gly202=
NM_001033055.3:c.604G= NP_001028227.1:p.Gly202=
NM_001285399.2:c.748G= NP_001272328.1:p.Gly250=
NM_001285399.3:c.748G= NP_001272328.1:p.Gly250=
NM_001285400.2:c.718G= NP_001272329.1:p.Gly240=
NM_001285400.3:c.718G= NP_001272329.1:p.Gly240=
NM_001285401.2:c.712G= NP_001272330.1:p.Gly238=
NM_001285401.3:c.712G= NP_001272330.1:p.Gly238=
NM_001285402.1:c.667G= NP_001272331.1:p.Gly223=
NM_001285402.2:c.667G= NP_001272331.1:p.Gly223=
NM_001285403.2:c.760G= NP_001272332.1:p.Gly254=
NM_001285403.3:c.760G= NP_001272332.1:p.Gly254=
NM_001285403.4:c.760G= NP_001272332.1:p.Gly254=
NM_014336.4:c.784G= NP_055151.3:p.Gly262=
ENST00000250087.9:c.595G= ENSP00000250087.5:p.Gly199=
ENST00000381128.2:c.*656G= ENSP00000370520.2:n.*656G=
ENST00000381129.7:c.784G= ENSP00000370521.3:p.Gly262=
ENST00000570466.5:c.718G= ENSP00000461287.1:p.Gly240=
ENST00000570584.5:c.251+7304G=
ENST00000571740.5:c.760G= ENSP00000460134.1:p.Gly254=
ENST00000574506.5:c.748G= ENSP00000458456.1:p.Gly250=
ENST00000575265.5:c.784G= ENSP00000459673.1:p.Gly262=
ENST00000576307.5:c.604G= ENSP00000459522.1:p.Gly202=
ENST00000576776.5:c.712G= ENSP00000460827.1:p.Gly238=
ENST00000621374.4:c.784G= ENSP00000481337.1:p.Gly262=