Canonical Allele Identifier: CA397394474

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425624-C-T
• MyVariant Identifiers: chr17:g.6328944C>T (hg19) ; chr17:g.6425624C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425624C>T , CM000679.2:g.6425624C>T	GRCh38
NC_000017.10:g.6328944C>T , CM000679.1:g.6328944C>T	GRCh37
NC_000017.9:g.6269668C>T	NCBI36
NG_008474.1:g.14576G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.991G>A MANE Select	ENSP00000370521.3:p.Ala331Thr
ENST00000250087.9:c.802G>A	ENSP00000250087.5:p.Ala268Thr
ENST00000381128.2:c.*863G>A	ENSP00000370520.2:n.*863G>A
ENST00000381129.7:c.991G>A	ENSP00000370521.3:p.Ala331Thr
ENST00000570466.5:c.925G>A	ENSP00000461287.1:p.Ala309Thr
ENST00000570584.5:c.251+8295G>A
ENST00000574506.5:c.955G>A	ENSP00000458456.1:p.Ala319Thr
ENST00000575265.5:c.*962G>A	ENSP00000459673.1:n.*962G>A
ENST00000576307.5:c.811G>A	ENSP00000459522.1:p.Ala271Thr
ENST00000576776.5:c.919G>A	ENSP00000460827.1:p.Ala307Thr
ENST00000621374.4:c.*9G>A	ENSP00000481337.1:n.*9G>A
NM_001033054.2:c.802G>A	NP_001028226.1:p.Ala268Thr
NM_001033055.2:c.811G>A	NP_001028227.1:p.Ala271Thr
NM_001285399.2:c.955G>A	NP_001272328.1:p.Ala319Thr
NM_001285400.2:c.925G>A	NP_001272329.1:p.Ala309Thr
NM_001285401.2:c.919G>A	NP_001272330.1:p.Ala307Thr
NM_001285402.1:c.874G>A	NP_001272331.1:p.Ala292Thr
NM_014336.4:c.991G>A	NP_055151.3:p.Ala331Thr
NM_001033054.3:c.802G>A	NP_001028226.1:p.Ala268Thr
NM_001033055.3:c.811G>A	NP_001028227.1:p.Ala271Thr
NM_001285399.3:c.955G>A	NP_001272328.1:p.Ala319Thr
NM_001285400.3:c.925G>A	NP_001272329.1:p.Ala309Thr
NM_001285401.3:c.919G>A	NP_001272330.1:p.Ala307Thr
NM_001285402.2:c.874G>A	NP_001272331.1:p.Ala292Thr
NM_001285403.3:c.*962G>A	NP_001272332.1:n.*962G>A
NM_014336.5:c.991G>A MANE Select	NP_055151.3:p.Ala331Thr
NM_001285403.4:c.*962G>A	NP_001272332.1:n.*962G>A