Canonical Allele Identifier: CA397394604

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425675-C-G
• MyVariant Identifiers: chr17:g.6328995C>G (hg19) ; chr17:g.6425675C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425675C>G , CM000679.2:g.6425675C>G	GRCh38
NC_000017.10:g.6328995C>G , CM000679.1:g.6328995C>G	GRCh37
NC_000017.9:g.6269719C>G	NCBI36
NG_008474.1:g.14525G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.940G>C MANE Select	ENSP00000370521.3:p.Glu314Gln
ENST00000250087.9:c.751G>C	ENSP00000250087.5:p.Glu251Gln
ENST00000381128.2:c.*812G>C	ENSP00000370520.2:n.*812G>C
ENST00000381129.7:c.940G>C	ENSP00000370521.3:p.Glu314Gln
ENST00000570466.5:c.874G>C	ENSP00000461287.1:p.Glu292Gln
ENST00000570584.5:c.251+8244G>C
ENST00000574506.5:c.904G>C	ENSP00000458456.1:p.Glu302Gln
ENST00000575265.5:c.*911G>C	ENSP00000459673.1:n.*911G>C
ENST00000576307.5:c.760G>C	ENSP00000459522.1:p.Glu254Gln
ENST00000576776.5:c.868G>C	ENSP00000460827.1:p.Glu290Gln
ENST00000621374.4:c.939G>C	ENSP00000481337.1:p.Arg313=
NM_001033054.2:c.751G>C	NP_001028226.1:p.Glu251Gln
NM_001033055.2:c.760G>C	NP_001028227.1:p.Glu254Gln
NM_001285399.2:c.904G>C	NP_001272328.1:p.Glu302Gln
NM_001285400.2:c.874G>C	NP_001272329.1:p.Glu292Gln
NM_001285401.2:c.868G>C	NP_001272330.1:p.Glu290Gln
NM_001285402.1:c.823G>C	NP_001272331.1:p.Glu275Gln
NM_014336.4:c.940G>C	NP_055151.3:p.Glu314Gln
NM_001033054.3:c.751G>C	NP_001028226.1:p.Glu251Gln
NM_001033055.3:c.760G>C	NP_001028227.1:p.Glu254Gln
NM_001285399.3:c.904G>C	NP_001272328.1:p.Glu302Gln
NM_001285400.3:c.874G>C	NP_001272329.1:p.Glu292Gln
NM_001285401.3:c.868G>C	NP_001272330.1:p.Glu290Gln
NM_001285402.2:c.823G>C	NP_001272331.1:p.Glu275Gln
NM_001285403.3:c.*911G>C	NP_001272332.1:n.*911G>C
NM_014336.5:c.940G>C MANE Select	NP_055151.3:p.Glu314Gln
NM_001285403.4:c.*911G>C	NP_001272332.1:n.*911G>C