Canonical Allele Identifier: CA497687399

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 1904744
• ClinVar RCV Id: RCV002592764
• gnomAD v4: 17-6425619-C-T
• MyVariant Identifiers: chr17:g.6328939C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425619C>T , CM000679.2:g.6425619C>T	GRCh38
NC_000017.10:g.6328939C>T , CM000679.1:g.6328939C>T	GRCh37
NC_000017.9:g.6269663C>T	NCBI36
NG_008474.1:g.14581G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.996G>A MANE Select	ENSP00000370521.3:p.Thr332=
ENST00000250087.9:c.807G>A	ENSP00000250087.5:p.Thr269=
ENST00000381128.2:c.*868G>A	ENSP00000370520.2:n.*868G>A
ENST00000381129.7:c.996G>A	ENSP00000370521.3:p.Thr332=
ENST00000570466.5:c.930G>A	ENSP00000461287.1:p.Thr310=
ENST00000570584.5:c.251+8300G>A
ENST00000574506.5:c.960G>A	ENSP00000458456.1:p.Thr320=
ENST00000575265.5:c.*967G>A	ENSP00000459673.1:n.*967G>A
ENST00000576307.5:c.816G>A	ENSP00000459522.1:p.Thr272=
ENST00000576776.5:c.924G>A	ENSP00000460827.1:p.Thr308=
ENST00000621374.4:c.*14G>A	ENSP00000481337.1:n.*14G>A
NM_001033054.2:c.807G>A	NP_001028226.1:p.Thr269=
NM_001033055.2:c.816G>A	NP_001028227.1:p.Thr272=
NM_001285399.2:c.960G>A	NP_001272328.1:p.Thr320=
NM_001285400.2:c.930G>A	NP_001272329.1:p.Thr310=
NM_001285401.2:c.924G>A	NP_001272330.1:p.Thr308=
NM_001285402.1:c.879G>A	NP_001272331.1:p.Thr293=
NM_014336.4:c.996G>A	NP_055151.3:p.Thr332=
NM_001033054.3:c.807G>A	NP_001028226.1:p.Thr269=
NM_001033055.3:c.816G>A	NP_001028227.1:p.Thr272=
NM_001285399.3:c.960G>A	NP_001272328.1:p.Thr320=
NM_001285400.3:c.930G>A	NP_001272329.1:p.Thr310=
NM_001285401.3:c.924G>A	NP_001272330.1:p.Thr308=
NM_001285402.2:c.879G>A	NP_001272331.1:p.Thr293=
NM_001285403.3:c.*967G>A	NP_001272332.1:n.*967G>A
NM_014336.5:c.996G>A MANE Select	NP_055151.3:p.Thr332=
NM_001285403.4:c.*967G>A	NP_001272332.1:n.*967G>A