Canonical Allele Identifier: CA397394437

Gene: AIPL1

Linked Data

• dbSNP Id: rs1911845799
• gnomAD v3: 17-6425605-T-A
• gnomAD v4: 17-6425605-T-A
• MyVariant Identifiers: chr17:g.6328925T>A (hg19) ; chr17:g.6425605T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425605T>A , CM000679.2:g.6425605T>A	GRCh38
NC_000017.10:g.6328925T>A , CM000679.1:g.6328925T>A	GRCh37
NC_000017.9:g.6269649T>A	NCBI36
NG_008474.1:g.14595A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1010A>T MANE Select	ENSP00000370521.3:p.Glu337Val
ENST00000250087.9:c.821A>T	ENSP00000250087.5:p.Glu274Val
ENST00000381128.2:c.*882A>T	ENSP00000370520.2:n.*882A>T
ENST00000381129.7:c.1010A>T	ENSP00000370521.3:p.Glu337Val
ENST00000570466.5:c.944A>T	ENSP00000461287.1:p.Glu315Val
ENST00000570584.5:c.251+8314A>T
ENST00000574506.5:c.974A>T	ENSP00000458456.1:p.Glu325Val
ENST00000575265.5:c.*981A>T	ENSP00000459673.1:n.*981A>T
ENST00000576307.5:c.830A>T	ENSP00000459522.1:p.Glu277Val
ENST00000576776.5:c.938A>T	ENSP00000460827.1:p.Glu313Val
ENST00000621374.4:c.*28A>T	ENSP00000481337.1:n.*28A>T
NM_001033054.2:c.821A>T	NP_001028226.1:p.Glu274Val
NM_001033055.2:c.830A>T	NP_001028227.1:p.Glu277Val
NM_001285399.2:c.974A>T	NP_001272328.1:p.Glu325Val
NM_001285400.2:c.944A>T	NP_001272329.1:p.Glu315Val
NM_001285401.2:c.938A>T	NP_001272330.1:p.Glu313Val
NM_001285402.1:c.893A>T	NP_001272331.1:p.Glu298Val
NM_014336.4:c.1010A>T	NP_055151.3:p.Glu337Val
NM_001033054.3:c.821A>T	NP_001028226.1:p.Glu274Val
NM_001033055.3:c.830A>T	NP_001028227.1:p.Glu277Val
NM_001285399.3:c.974A>T	NP_001272328.1:p.Glu325Val
NM_001285400.3:c.944A>T	NP_001272329.1:p.Glu315Val
NM_001285401.3:c.938A>T	NP_001272330.1:p.Glu313Val
NM_001285402.2:c.893A>T	NP_001272331.1:p.Glu298Val
NM_001285403.3:c.*981A>T	NP_001272332.1:n.*981A>T
NM_014336.5:c.1010A>T MANE Select	NP_055151.3:p.Glu337Val
NM_001285403.4:c.*981A>T	NP_001272332.1:n.*981A>T