Canonical Allele Identifier: CA2245347517
Gene: AIPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6426538C= , CM000679.2:g.6426538C= GRCh38
NC_000017.10:g.6329858C= , CM000679.1:g.6329858C= GRCh37
NC_000017.9:g.6270582C= NCBI36
NG_008474.1:g.13662G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000381129.8:c.784+77G= MANE Select ENSP00000370521.3:n.784+77G=
ENST00000250087.9:c.595+77G= ENSP00000250087.5:n.595+77G=
ENST00000381128.2:c.*656+77G= ENSP00000370520.2:n.*656+77G=
ENST00000381129.7:c.784+77G= ENSP00000370521.3:n.784+77G=
ENST00000570466.5:c.718+77G= ENSP00000461287.1:n.718+77G=
ENST00000570584.5:c.251+7381G=
ENST00000571740.5:c.*48G= ENSP00000460134.1:n.*48G=
ENST00000574506.5:c.748+77G= ENSP00000458456.1:n.748+77G=
ENST00000575265.5:c.*48G= ENSP00000459673.1:n.*48G=
ENST00000576307.5:c.604+77G= ENSP00000459522.1:n.604+77G=
ENST00000576776.5:c.712+77G= ENSP00000460827.1:n.712+77G=
ENST00000621374.4:c.784+77G= ENSP00000481337.1:n.784+77G=
NM_001033054.2:c.595+77G= NP_001028226.1:n.595+77G=
NM_001033055.2:c.604+77G= NP_001028227.1:n.604+77G=
NM_001285399.2:c.748+77G= NP_001272328.1:n.748+77G=
NM_001285400.2:c.718+77G= NP_001272329.1:n.718+77G=
NM_001285401.2:c.712+77G= NP_001272330.1:n.712+77G=
NM_001285402.1:c.667+77G= NP_001272331.1:n.667+77G=
NM_001285403.2:c.*48G= NP_001272332.1:n.*48G=
NM_014336.4:c.784+77G= NP_055151.3:n.784+77G=
NM_001033054.3:c.595+77G= NP_001028226.1:n.595+77G=
NM_001033055.3:c.604+77G= NP_001028227.1:n.604+77G=
NM_001285399.3:c.748+77G= NP_001272328.1:n.748+77G=
NM_001285400.3:c.718+77G= NP_001272329.1:n.718+77G=
NM_001285401.3:c.712+77G= NP_001272330.1:n.712+77G=
NM_001285402.2:c.667+77G= NP_001272331.1:n.667+77G=
NM_001285403.3:c.*48G= NP_001272332.1:n.*48G=
NM_014336.5:c.784+77G= MANE Select NP_055151.3:n.784+77G=
NM_001285403.4:c.*48G= NP_001272332.1:n.*48G=