Canonical Allele Identifier: CA8328324
Gene: AIPL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1111166
ClinVar RCV Id: RCV001437655
dbSNP Id: rs777042856
gnomAD v2: 17-6328888-C-T
gnomAD v3: 17-6425568-C-T
gnomAD v4: 17-6425568-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425568C>T , CM000679.2:g.6425568C>T GRCh38
NC_000017.10:g.6328888C>T , CM000679.1:g.6328888C>T GRCh37
NC_000017.9:g.6269612C>T NCBI36
NG_008474.1:g.14632G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000381129.8:c.1047G>A MANE Select ENSP00000370521.3:p.Glu349=
ENST00000250087.9:c.858G>A ENSP00000250087.5:p.Glu286=
ENST00000381128.2:c.*919G>A ENSP00000370520.2:n.*919G>A
ENST00000381129.7:c.1047G>A ENSP00000370521.3:p.Glu349=
ENST00000570466.5:c.981G>A ENSP00000461287.1:p.Glu327=
ENST00000570584.5:c.251+8351G>A
ENST00000574506.5:c.1011G>A ENSP00000458456.1:p.Glu337=
ENST00000575265.5:c.*1018G>A ENSP00000459673.1:n.*1018G>A
ENST00000576307.5:c.867G>A ENSP00000459522.1:p.Glu289=
ENST00000576776.5:c.975G>A ENSP00000460827.1:p.Glu325=
ENST00000621374.4:c.*65G>A ENSP00000481337.1:n.*65G>A
NM_001033054.2:c.858G>A NP_001028226.1:p.Glu286=
NM_001033055.2:c.867G>A NP_001028227.1:p.Glu289=
NM_001285399.2:c.1011G>A NP_001272328.1:p.Glu337=
NM_001285400.2:c.981G>A NP_001272329.1:p.Glu327=
NM_001285401.2:c.975G>A NP_001272330.1:p.Glu325=
NM_001285402.1:c.930G>A NP_001272331.1:p.Glu310=
NM_014336.4:c.1047G>A NP_055151.3:p.Glu349=
NM_001033054.3:c.858G>A NP_001028226.1:p.Glu286=
NM_001033055.3:c.867G>A NP_001028227.1:p.Glu289=
NM_001285399.3:c.1011G>A NP_001272328.1:p.Glu337=
NM_001285400.3:c.981G>A NP_001272329.1:p.Glu327=
NM_001285401.3:c.975G>A NP_001272330.1:p.Glu325=
NM_001285402.2:c.930G>A NP_001272331.1:p.Glu310=
NM_001285403.3:c.*1018G>A NP_001272332.1:n.*1018G>A
NM_014336.5:c.1047G>A MANE Select NP_055151.3:p.Glu349=
NM_001285403.4:c.*1018G>A NP_001272332.1:n.*1018G>A