Canonical Allele Identifier: CA774024161
Gene: AIPL1 HGNC NCBI

Linked Data

dbSNP Id: rs1314036928
gnomAD v3: 17-6425252-A-G
gnomAD v4: 17-6425252-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425252A>G , CM000679.2:g.6425252A>G GRCh38
NC_000017.10:g.6328572A>G , CM000679.1:g.6328572A>G GRCh37
NC_000017.9:g.6269296A>G NCBI36
NG_008474.1:g.14948T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381129.8:c.*208T>C MANE Select ENSP00000370521.3:n.*208T>C
ENST00000250087.9:c.*208T>C ENSP00000250087.5:n.*208T>C
ENST00000381128.2:c.*1235T>C ENSP00000370520.2:n.*1235T>C
ENST00000381129.7:c.*208T>C ENSP00000370521.3:n.*208T>C
ENST00000570584.5:c.251+8667T>C
ENST00000574506.5:c.*208T>C ENSP00000458456.1:n.*208T>C
NM_001033054.2:c.*208T>C NP_001028226.1:n.*208T>C
NM_001033055.2:c.*208T>C NP_001028227.1:n.*208T>C
NM_001285399.2:c.*208T>C NP_001272328.1:n.*208T>C
NM_001285400.2:c.*208T>C NP_001272329.1:n.*208T>C
NM_001285401.2:c.*208T>C NP_001272330.1:n.*208T>C
NM_001285402.1:c.*208T>C NP_001272331.1:n.*208T>C
NM_014336.4:c.*208T>C NP_055151.3:n.*208T>C
NM_001033054.3:c.*208T>C NP_001028226.1:n.*208T>C
NM_001033055.3:c.*208T>C NP_001028227.1:n.*208T>C
NM_001285399.3:c.*208T>C NP_001272328.1:n.*208T>C
NM_001285400.3:c.*208T>C NP_001272329.1:n.*208T>C
NM_001285401.3:c.*208T>C NP_001272330.1:n.*208T>C
NM_001285402.2:c.*208T>C NP_001272331.1:n.*208T>C
NM_014336.5:c.*208T>C MANE Select NP_055151.3:n.*208T>C
NM_001285403.4:c.*1334T>C NP_001272332.1:n.*1334T>C