Canonical Allele Identifier: CA981100515
Gene: AIPL1 HGNC NCBI

Linked Data

dbSNP Id: rs1911809337
gnomAD v3: 17-6425401-G-A
gnomAD v4: 17-6425401-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425401G>A , CM000679.2:g.6425401G>A GRCh38
NC_000017.10:g.6328721G>A , CM000679.1:g.6328721G>A GRCh37
NC_000017.9:g.6269445G>A NCBI36
NG_008474.1:g.14799C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000381129.8:c.*59C>T MANE Select ENSP00000370521.3:n.*59C>T
ENST00000250087.9:c.*59C>T ENSP00000250087.5:n.*59C>T
ENST00000381128.2:c.*1086C>T ENSP00000370520.2:n.*1086C>T
ENST00000381129.7:c.*59C>T ENSP00000370521.3:n.*59C>T
ENST00000570466.5:c.*59C>T ENSP00000461287.1:n.*59C>T
ENST00000570584.5:c.251+8518C>T
ENST00000574506.5:c.*59C>T ENSP00000458456.1:n.*59C>T
ENST00000575265.5:c.*1185C>T ENSP00000459673.1:n.*1185C>T
ENST00000576776.5:c.*59C>T ENSP00000460827.1:n.*59C>T
ENST00000621374.4:c.*232C>T ENSP00000481337.1:n.*232C>T
NM_001033054.2:c.*59C>T NP_001028226.1:n.*59C>T
NM_001033055.2:c.*59C>T NP_001028227.1:n.*59C>T
NM_001285399.2:c.*59C>T NP_001272328.1:n.*59C>T
NM_001285400.2:c.*59C>T NP_001272329.1:n.*59C>T
NM_001285401.2:c.*59C>T NP_001272330.1:n.*59C>T
NM_001285402.1:c.*59C>T NP_001272331.1:n.*59C>T
NM_014336.4:c.*59C>T NP_055151.3:n.*59C>T
NM_001033054.3:c.*59C>T NP_001028226.1:n.*59C>T
NM_001033055.3:c.*59C>T NP_001028227.1:n.*59C>T
NM_001285399.3:c.*59C>T NP_001272328.1:n.*59C>T
NM_001285400.3:c.*59C>T NP_001272329.1:n.*59C>T
NM_001285401.3:c.*59C>T NP_001272330.1:n.*59C>T
NM_001285402.2:c.*59C>T NP_001272331.1:n.*59C>T
NM_001285403.3:c.*1185C>T NP_001272332.1:n.*1185C>T
NM_014336.5:c.*59C>T MANE Select NP_055151.3:n.*59C>T
NM_001285403.4:c.*1185C>T NP_001272332.1:n.*1185C>T