Canonical Allele Identifier: CA10640246
Gene: AIPL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 324608
dbSNP Id: rs151279098
gnomAD v2: 17-6328727-G-A
gnomAD v3: 17-6425407-G-A
gnomAD v4: 17-6425407-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425407G>A , CM000679.2:g.6425407G>A GRCh38
NC_000017.10:g.6328727G>A , CM000679.1:g.6328727G>A GRCh37
NC_000017.9:g.6269451G>A NCBI36
NG_008474.1:g.14793C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000381129.8:c.*53C>T MANE Select ENSP00000370521.3:n.*53C>T
ENST00000250087.9:c.*53C>T ENSP00000250087.5:n.*53C>T
ENST00000381128.2:c.*1080C>T ENSP00000370520.2:n.*1080C>T
ENST00000381129.7:c.*53C>T ENSP00000370521.3:n.*53C>T
ENST00000570466.5:c.*53C>T ENSP00000461287.1:n.*53C>T
ENST00000570584.5:c.251+8512C>T
ENST00000574506.5:c.*53C>T ENSP00000458456.1:n.*53C>T
ENST00000575265.5:c.*1179C>T ENSP00000459673.1:n.*1179C>T
ENST00000576307.5:c.*53C>T ENSP00000459522.1:n.*53C>T
ENST00000576776.5:c.*53C>T ENSP00000460827.1:n.*53C>T
ENST00000621374.4:c.*226C>T ENSP00000481337.1:n.*226C>T
NM_001033054.2:c.*53C>T NP_001028226.1:n.*53C>T
NM_001033055.2:c.*53C>T NP_001028227.1:n.*53C>T
NM_001285399.2:c.*53C>T NP_001272328.1:n.*53C>T
NM_001285400.2:c.*53C>T NP_001272329.1:n.*53C>T
NM_001285401.2:c.*53C>T NP_001272330.1:n.*53C>T
NM_001285402.1:c.*53C>T NP_001272331.1:n.*53C>T
NM_014336.4:c.*53C>T NP_055151.3:n.*53C>T
NM_001033054.3:c.*53C>T NP_001028226.1:n.*53C>T
NM_001033055.3:c.*53C>T NP_001028227.1:n.*53C>T
NM_001285399.3:c.*53C>T NP_001272328.1:n.*53C>T
NM_001285400.3:c.*53C>T NP_001272329.1:n.*53C>T
NM_001285401.3:c.*53C>T NP_001272330.1:n.*53C>T
NM_001285402.2:c.*53C>T NP_001272331.1:n.*53C>T
NM_001285403.3:c.*1179C>T NP_001272332.1:n.*1179C>T
NM_014336.5:c.*53C>T MANE Select NP_055151.3:n.*53C>T
NM_001285403.4:c.*1179C>T NP_001272332.1:n.*1179C>T