Canonical Allele Identifier: CA397394400

Gene: AIPL1

Linked Data

• dbSNP Id: rs757121467
• gnomAD v4: 17-6425585-C-T
• COSMIC: COSM6081722
• MyVariant Identifiers: chr17:g.6328905C>T (hg19) ; chr17:g.6425585C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425585C>T , CM000679.2:g.6425585C>T	GRCh38
NC_000017.10:g.6328905C>T , CM000679.1:g.6328905C>T	GRCh37
NC_000017.9:g.6269629C>T	NCBI36
NG_008474.1:g.14615G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1030G>A MANE Select	ENSP00000370521.3:p.Ala344Thr
ENST00000250087.9:c.841G>A	ENSP00000250087.5:p.Ala281Thr
ENST00000381128.2:c.*902G>A	ENSP00000370520.2:n.*902G>A
ENST00000381129.7:c.1030G>A	ENSP00000370521.3:p.Ala344Thr
ENST00000570466.5:c.964G>A	ENSP00000461287.1:p.Ala322Thr
ENST00000570584.5:c.251+8334G>A
ENST00000574506.5:c.994G>A	ENSP00000458456.1:p.Ala332Thr
ENST00000575265.5:c.*1001G>A	ENSP00000459673.1:n.*1001G>A
ENST00000576307.5:c.850G>A	ENSP00000459522.1:p.Ala284Thr
ENST00000576776.5:c.958G>A	ENSP00000460827.1:p.Ala320Thr
ENST00000621374.4:c.*48G>A	ENSP00000481337.1:n.*48G>A
NM_001033054.2:c.841G>A	NP_001028226.1:p.Ala281Thr
NM_001033055.2:c.850G>A	NP_001028227.1:p.Ala284Thr
NM_001285399.2:c.994G>A	NP_001272328.1:p.Ala332Thr
NM_001285400.2:c.964G>A	NP_001272329.1:p.Ala322Thr
NM_001285401.2:c.958G>A	NP_001272330.1:p.Ala320Thr
NM_001285402.1:c.913G>A	NP_001272331.1:p.Ala305Thr
NM_014336.4:c.1030G>A	NP_055151.3:p.Ala344Thr
NM_001033054.3:c.841G>A	NP_001028226.1:p.Ala281Thr
NM_001033055.3:c.850G>A	NP_001028227.1:p.Ala284Thr
NM_001285399.3:c.994G>A	NP_001272328.1:p.Ala332Thr
NM_001285400.3:c.964G>A	NP_001272329.1:p.Ala322Thr
NM_001285401.3:c.958G>A	NP_001272330.1:p.Ala320Thr
NM_001285402.2:c.913G>A	NP_001272331.1:p.Ala305Thr
NM_001285403.3:c.*1001G>A	NP_001272332.1:n.*1001G>A
NM_014336.5:c.1030G>A MANE Select	NP_055151.3:p.Ala344Thr
NM_001285403.4:c.*1001G>A	NP_001272332.1:n.*1001G>A