Canonical Allele Identifier: CA8328295

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 324610
• ClinVar RCV Id: RCV000279179 ; RCV000320060 ; RCV000373713
• dbSNP Id: rs369568105
• ExAC: 17:6328757 G / C
• gnomAD v2: 17-6328757-G-C
• gnomAD v3: 17-6425437-G-C
• gnomAD v4: 17-6425437-G-C
• MyVariant Identifiers: chr17:g.6328757G>C (hg19) ; chr17:g.6425437G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425437G>C , CM000679.2:g.6425437G>C	GRCh38
NC_000017.10:g.6328757G>C , CM000679.1:g.6328757G>C	GRCh37
NC_000017.9:g.6269481G>C	NCBI36
NG_008474.1:g.14763C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.*23C>G MANE Select	ENSP00000370521.3:n.*23C>G
ENST00000250087.9:c.*23C>G	ENSP00000250087.5:n.*23C>G
ENST00000381128.2:c.*1050C>G	ENSP00000370520.2:n.*1050C>G
ENST00000381129.7:c.*23C>G	ENSP00000370521.3:n.*23C>G
ENST00000570466.5:c.*23C>G	ENSP00000461287.1:n.*23C>G
ENST00000570584.5:c.251+8482C>G
ENST00000574506.5:c.*23C>G	ENSP00000458456.1:n.*23C>G
ENST00000575265.5:c.*1149C>G	ENSP00000459673.1:n.*1149C>G
ENST00000576307.5:c.*23C>G	ENSP00000459522.1:n.*23C>G
ENST00000576776.5:c.*23C>G	ENSP00000460827.1:n.*23C>G
ENST00000621374.4:c.*196C>G	ENSP00000481337.1:n.*196C>G
NM_001033054.2:c.*23C>G	NP_001028226.1:n.*23C>G
NM_001033055.2:c.*23C>G	NP_001028227.1:n.*23C>G
NM_001285399.2:c.*23C>G	NP_001272328.1:n.*23C>G
NM_001285400.2:c.*23C>G	NP_001272329.1:n.*23C>G
NM_001285401.2:c.*23C>G	NP_001272330.1:n.*23C>G
NM_001285402.1:c.*23C>G	NP_001272331.1:n.*23C>G
NM_014336.4:c.*23C>G	NP_055151.3:n.*23C>G
NM_001033054.3:c.*23C>G	NP_001028226.1:n.*23C>G
NM_001033055.3:c.*23C>G	NP_001028227.1:n.*23C>G
NM_001285399.3:c.*23C>G	NP_001272328.1:n.*23C>G
NM_001285400.3:c.*23C>G	NP_001272329.1:n.*23C>G
NM_001285401.3:c.*23C>G	NP_001272330.1:n.*23C>G
NM_001285402.2:c.*23C>G	NP_001272331.1:n.*23C>G
NM_001285403.3:c.*1149C>G	NP_001272332.1:n.*1149C>G
NM_014336.5:c.*23C>G MANE Select	NP_055151.3:n.*23C>G
NM_001285403.4:c.*1149C>G	NP_001272332.1:n.*1149C>G