Canonical Allele Identifier: CA2635688677
Gene: AIPL1 HGNC NCBI

Linked Data

dbSNP Id: rs553563740
gnomAD v4: 17-6425304-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425304A>T , CM000679.2:g.6425304A>T GRCh38
NC_000017.10:g.6328624A>T , CM000679.1:g.6328624A>T GRCh37
NC_000017.9:g.6269348A>T NCBI36
NG_008474.1:g.14896T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000381129.8:c.*156T>A MANE Select ENSP00000370521.3:n.*156T>A
ENST00000250087.9:c.*156T>A ENSP00000250087.5:n.*156T>A
ENST00000381128.2:c.*1183T>A ENSP00000370520.2:n.*1183T>A
ENST00000381129.7:c.*156T>A ENSP00000370521.3:n.*156T>A
ENST00000570584.5:c.251+8615T>A
ENST00000574506.5:c.*156T>A ENSP00000458456.1:n.*156T>A
NM_001033054.2:c.*156T>A NP_001028226.1:n.*156T>A
NM_001033055.2:c.*156T>A NP_001028227.1:n.*156T>A
NM_001285399.2:c.*156T>A NP_001272328.1:n.*156T>A
NM_001285400.2:c.*156T>A NP_001272329.1:n.*156T>A
NM_001285401.2:c.*156T>A NP_001272330.1:n.*156T>A
NM_001285402.1:c.*156T>A NP_001272331.1:n.*156T>A
NM_014336.4:c.*156T>A NP_055151.3:n.*156T>A
NM_001033054.3:c.*156T>A NP_001028226.1:n.*156T>A
NM_001033055.3:c.*156T>A NP_001028227.1:n.*156T>A
NM_001285399.3:c.*156T>A NP_001272328.1:n.*156T>A
NM_001285400.3:c.*156T>A NP_001272329.1:n.*156T>A
NM_001285401.3:c.*156T>A NP_001272330.1:n.*156T>A
NM_001285402.2:c.*156T>A NP_001272331.1:n.*156T>A
NM_014336.5:c.*156T>A MANE Select NP_055151.3:n.*156T>A
NM_001285403.4:c.*1282T>A NP_001272332.1:n.*1282T>A