Canonical Allele Identifier: CA8328293

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 324609
• ClinVar RCV Id: RCV000268379 ; RCV000323472 ; RCV000358585
• dbSNP Id: rs140472462
• ExAC: 17:6328747 T / G
• gnomAD v2: 17-6328747-T-G
• gnomAD v3: 17-6425427-T-G
• gnomAD v4: 17-6425427-T-G
• COSMIC: COSN5268277
• MyVariant Identifiers: chr17:g.6328747T>G (hg19) ; chr17:g.6425427T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425427T>G , CM000679.2:g.6425427T>G	GRCh38
NC_000017.10:g.6328747T>G , CM000679.1:g.6328747T>G	GRCh37
NC_000017.9:g.6269471T>G	NCBI36
NG_008474.1:g.14773A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.*33A>C MANE Select	ENSP00000370521.3:n.*33A>C
ENST00000250087.9:c.*33A>C	ENSP00000250087.5:n.*33A>C
ENST00000381128.2:c.*1060A>C	ENSP00000370520.2:n.*1060A>C
ENST00000381129.7:c.*33A>C	ENSP00000370521.3:n.*33A>C
ENST00000570466.5:c.*33A>C	ENSP00000461287.1:n.*33A>C
ENST00000570584.5:c.251+8492A>C
ENST00000574506.5:c.*33A>C	ENSP00000458456.1:n.*33A>C
ENST00000575265.5:c.*1159A>C	ENSP00000459673.1:n.*1159A>C
ENST00000576307.5:c.*33A>C	ENSP00000459522.1:n.*33A>C
ENST00000576776.5:c.*33A>C	ENSP00000460827.1:n.*33A>C
ENST00000621374.4:c.*206A>C	ENSP00000481337.1:n.*206A>C
NM_001033054.2:c.*33A>C	NP_001028226.1:n.*33A>C
NM_001033055.2:c.*33A>C	NP_001028227.1:n.*33A>C
NM_001285399.2:c.*33A>C	NP_001272328.1:n.*33A>C
NM_001285400.2:c.*33A>C	NP_001272329.1:n.*33A>C
NM_001285401.2:c.*33A>C	NP_001272330.1:n.*33A>C
NM_001285402.1:c.*33A>C	NP_001272331.1:n.*33A>C
NM_014336.4:c.*33A>C	NP_055151.3:n.*33A>C
NM_001033054.3:c.*33A>C	NP_001028226.1:n.*33A>C
NM_001033055.3:c.*33A>C	NP_001028227.1:n.*33A>C
NM_001285399.3:c.*33A>C	NP_001272328.1:n.*33A>C
NM_001285400.3:c.*33A>C	NP_001272329.1:n.*33A>C
NM_001285401.3:c.*33A>C	NP_001272330.1:n.*33A>C
NM_001285402.2:c.*33A>C	NP_001272331.1:n.*33A>C
NM_001285403.3:c.*1159A>C	NP_001272332.1:n.*1159A>C
NM_014336.5:c.*33A>C MANE Select	NP_055151.3:n.*33A>C
NM_001285403.4:c.*1159A>C	NP_001272332.1:n.*1159A>C