Canonical Allele Identifier: CA397394624

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 1496699
• ClinVar RCV Id: RCV001992008
• dbSNP Id: rs1342076335
• gnomAD v4: 17-6425683-C-T
• COSMIC: COSM2796638
• MyVariant Identifiers: chr17:g.6329003C>T (hg19) ; chr17:g.6425683C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425683C>T , CM000679.2:g.6425683C>T	GRCh38
NC_000017.10:g.6329003C>T , CM000679.1:g.6329003C>T	GRCh37
NC_000017.9:g.6269727C>T	NCBI36
NG_008474.1:g.14517G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.932G>A MANE Select	ENSP00000370521.3:p.Arg311His
ENST00000250087.9:c.743G>A	ENSP00000250087.5:p.Arg248His
ENST00000381128.2:c.*804G>A	ENSP00000370520.2:n.*804G>A
ENST00000381129.7:c.932G>A	ENSP00000370521.3:p.Arg311His
ENST00000570466.5:c.866G>A	ENSP00000461287.1:p.Arg289His
ENST00000570584.5:c.251+8236G>A
ENST00000574506.5:c.896G>A	ENSP00000458456.1:p.Arg299His
ENST00000575265.5:c.*903G>A	ENSP00000459673.1:n.*903G>A
ENST00000576307.5:c.752G>A	ENSP00000459522.1:p.Arg251His
ENST00000576776.5:c.860G>A	ENSP00000460827.1:p.Arg287His
ENST00000621374.4:c.931G>A	ENSP00000481337.1:p.Ala311Thr
NM_001033054.2:c.743G>A	NP_001028226.1:p.Arg248His
NM_001033055.2:c.752G>A	NP_001028227.1:p.Arg251His
NM_001285399.2:c.896G>A	NP_001272328.1:p.Arg299His
NM_001285400.2:c.866G>A	NP_001272329.1:p.Arg289His
NM_001285401.2:c.860G>A	NP_001272330.1:p.Arg287His
NM_001285402.1:c.815G>A	NP_001272331.1:p.Arg272His
NM_014336.4:c.932G>A	NP_055151.3:p.Arg311His
NM_001033054.3:c.743G>A	NP_001028226.1:p.Arg248His
NM_001033055.3:c.752G>A	NP_001028227.1:p.Arg251His
NM_001285399.3:c.896G>A	NP_001272328.1:p.Arg299His
NM_001285400.3:c.866G>A	NP_001272329.1:p.Arg289His
NM_001285401.3:c.860G>A	NP_001272330.1:p.Arg287His
NM_001285402.2:c.815G>A	NP_001272331.1:p.Arg272His
NM_001285403.3:c.*903G>A	NP_001272332.1:n.*903G>A
NM_014336.5:c.932G>A MANE Select	NP_055151.3:p.Arg311His
NM_001285403.4:c.*903G>A	NP_001272332.1:n.*903G>A