Canonical Allele Identifier: CA397394367

Gene: AIPL1

Linked Data

• dbSNP Id: rs1180442805
• gnomAD v2: 17-6328889-T-C
• gnomAD v4: 17-6425569-T-C
• MyVariant Identifiers: chr17:g.6328889T>C (hg19) ; chr17:g.6425569T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425569T>C , CM000679.2:g.6425569T>C	GRCh38
NC_000017.10:g.6328889T>C , CM000679.1:g.6328889T>C	GRCh37
NC_000017.9:g.6269613T>C	NCBI36
NG_008474.1:g.14631A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.1046A>G MANE Select	ENSP00000370521.3:p.Glu349Gly
ENST00000250087.9:c.857A>G	ENSP00000250087.5:p.Glu286Gly
ENST00000381128.2:c.*918A>G	ENSP00000370520.2:n.*918A>G
ENST00000381129.7:c.1046A>G	ENSP00000370521.3:p.Glu349Gly
ENST00000570466.5:c.980A>G	ENSP00000461287.1:p.Glu327Gly
ENST00000570584.5:c.251+8350A>G
ENST00000574506.5:c.1010A>G	ENSP00000458456.1:p.Glu337Gly
ENST00000575265.5:c.*1017A>G	ENSP00000459673.1:n.*1017A>G
ENST00000576307.5:c.866A>G	ENSP00000459522.1:p.Glu289Gly
ENST00000576776.5:c.974A>G	ENSP00000460827.1:p.Glu325Gly
ENST00000621374.4:c.*64A>G	ENSP00000481337.1:n.*64A>G
NM_001033054.2:c.857A>G	NP_001028226.1:p.Glu286Gly
NM_001033055.2:c.866A>G	NP_001028227.1:p.Glu289Gly
NM_001285399.2:c.1010A>G	NP_001272328.1:p.Glu337Gly
NM_001285400.2:c.980A>G	NP_001272329.1:p.Glu327Gly
NM_001285401.2:c.974A>G	NP_001272330.1:p.Glu325Gly
NM_001285402.1:c.929A>G	NP_001272331.1:p.Glu310Gly
NM_014336.4:c.1046A>G	NP_055151.3:p.Glu349Gly
NM_001033054.3:c.857A>G	NP_001028226.1:p.Glu286Gly
NM_001033055.3:c.866A>G	NP_001028227.1:p.Glu289Gly
NM_001285399.3:c.1010A>G	NP_001272328.1:p.Glu337Gly
NM_001285400.3:c.980A>G	NP_001272329.1:p.Glu327Gly
NM_001285401.3:c.974A>G	NP_001272330.1:p.Glu325Gly
NM_001285402.2:c.929A>G	NP_001272331.1:p.Glu310Gly
NM_001285403.3:c.*1017A>G	NP_001272332.1:n.*1017A>G
NM_014336.5:c.1046A>G MANE Select	NP_055151.3:p.Glu349Gly
NM_001285403.4:c.*1017A>G	NP_001272332.1:n.*1017A>G