Canonical Allele Identifier: CA397394540

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 1090560
• ClinVar RCV Id: RCV001409745
• dbSNP Id: rs1010625543
• MyVariant Identifiers: chr17:g.6328972C>T (hg19) ; chr17:g.6425652C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425652C>T , CM000679.2:g.6425652C>T	GRCh38
NC_000017.10:g.6328972C>T , CM000679.1:g.6328972C>T	GRCh37
NC_000017.9:g.6269696C>T	NCBI36
NG_008474.1:g.14548G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.963G>A MANE Select	ENSP00000370521.3:p.Leu321=
ENST00000250087.9:c.774G>A	ENSP00000250087.5:p.Leu258=
ENST00000381128.2:c.*835G>A	ENSP00000370520.2:n.*835G>A
ENST00000381129.7:c.963G>A	ENSP00000370521.3:p.Leu321=
ENST00000570466.5:c.897G>A	ENSP00000461287.1:p.Leu299=
ENST00000570584.5:c.251+8267G>A
ENST00000574506.5:c.927G>A	ENSP00000458456.1:p.Leu309=
ENST00000575265.5:c.*934G>A	ENSP00000459673.1:n.*934G>A
ENST00000576307.5:c.783G>A	ENSP00000459522.1:p.Leu261=
ENST00000576776.5:c.891G>A	ENSP00000460827.1:p.Leu297=
ENST00000621374.4:c.962G>A	ENSP00000481337.1:p.Cys321Tyr
NM_001033054.2:c.774G>A	NP_001028226.1:p.Leu258=
NM_001033055.2:c.783G>A	NP_001028227.1:p.Leu261=
NM_001285399.2:c.927G>A	NP_001272328.1:p.Leu309=
NM_001285400.2:c.897G>A	NP_001272329.1:p.Leu299=
NM_001285401.2:c.891G>A	NP_001272330.1:p.Leu297=
NM_001285402.1:c.846G>A	NP_001272331.1:p.Leu282=
NM_014336.4:c.963G>A	NP_055151.3:p.Leu321=
NM_001033054.3:c.774G>A	NP_001028226.1:p.Leu258=
NM_001033055.3:c.783G>A	NP_001028227.1:p.Leu261=
NM_001285399.3:c.927G>A	NP_001272328.1:p.Leu309=
NM_001285400.3:c.897G>A	NP_001272329.1:p.Leu299=
NM_001285401.3:c.891G>A	NP_001272330.1:p.Leu297=
NM_001285402.2:c.846G>A	NP_001272331.1:p.Leu282=
NM_001285403.3:c.*934G>A	NP_001272332.1:n.*934G>A
NM_014336.5:c.963G>A MANE Select	NP_055151.3:p.Leu321=
NM_001285403.4:c.*934G>A	NP_001272332.1:n.*934G>A