Canonical Allele Identifier: CA8328346

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 1571637
• ClinVar RCV Id: RCV002219168
• dbSNP Id: rs779791471
• ExAC: 17:6328974 G / A
• gnomAD v2: 17-6328974-G-A
• gnomAD v3: 17-6425654-G-A
• gnomAD v4: 17-6425654-G-A
• COSMIC: COSM5972352
• MyVariant Identifiers: chr17:g.6328974G>A (hg19) ; chr17:g.6425654G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425654G>A , CM000679.2:g.6425654G>A	GRCh38
NC_000017.10:g.6328974G>A , CM000679.1:g.6328974G>A	GRCh37
NC_000017.9:g.6269698G>A	NCBI36
NG_008474.1:g.14546C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.961C>T MANE Select	ENSP00000370521.3:p.Leu321=
ENST00000250087.9:c.772C>T	ENSP00000250087.5:p.Leu258=
ENST00000381128.2:c.*833C>T	ENSP00000370520.2:n.*833C>T
ENST00000381129.7:c.961C>T	ENSP00000370521.3:p.Leu321=
ENST00000570466.5:c.895C>T	ENSP00000461287.1:p.Leu299=
ENST00000570584.5:c.251+8265C>T
ENST00000574506.5:c.925C>T	ENSP00000458456.1:p.Leu309=
ENST00000575265.5:c.*932C>T	ENSP00000459673.1:n.*932C>T
ENST00000576307.5:c.781C>T	ENSP00000459522.1:p.Leu261=
ENST00000576776.5:c.889C>T	ENSP00000460827.1:p.Leu297=
ENST00000621374.4:c.960C>T	ENSP00000481337.1:p.Gly320=
NM_001033054.2:c.772C>T	NP_001028226.1:p.Leu258=
NM_001033055.2:c.781C>T	NP_001028227.1:p.Leu261=
NM_001285399.2:c.925C>T	NP_001272328.1:p.Leu309=
NM_001285400.2:c.895C>T	NP_001272329.1:p.Leu299=
NM_001285401.2:c.889C>T	NP_001272330.1:p.Leu297=
NM_001285402.1:c.844C>T	NP_001272331.1:p.Leu282=
NM_014336.4:c.961C>T	NP_055151.3:p.Leu321=
NM_001033054.3:c.772C>T	NP_001028226.1:p.Leu258=
NM_001033055.3:c.781C>T	NP_001028227.1:p.Leu261=
NM_001285399.3:c.925C>T	NP_001272328.1:p.Leu309=
NM_001285400.3:c.895C>T	NP_001272329.1:p.Leu299=
NM_001285401.3:c.889C>T	NP_001272330.1:p.Leu297=
NM_001285402.2:c.844C>T	NP_001272331.1:p.Leu282=
NM_001285403.3:c.*932C>T	NP_001272332.1:n.*932C>T
NM_014336.5:c.961C>T MANE Select	NP_055151.3:p.Leu321=
NM_001285403.4:c.*932C>T	NP_001272332.1:n.*932C>T