Canonical Allele Identifier: CA252272

Gene: PINK1 PINK1-AS

Linked Data

• ClinVar Variation Id: 2408
• ClinVar RCV Id: RCV000002509 ; RCV002223750
• dbSNP Id: rs28940285
• ExAC: 1:20972133 T / C
• gnomAD v2: 1-20972133-T-C
• gnomAD v3: 1-20645640-T-C
• gnomAD v4: 1-20645640-T-C
• MyVariant Identifiers: chr1:g.20972133T>C (hg19) ; chr1:g.20645640T>C (hg38)
• PubMed: PMID:15349870 ; PMID:15596610 ; PMID:15824318

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.20645640T>C , CM000663.2:g.20645640T>C	GRCh38
NC_000001.10:g.20972133T>C , CM000663.1:g.20972133T>C	GRCh37
NC_000001.9:g.20844720T>C	NCBI36
NG_008164.1:g.17186T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321556.5:c.1040T>C (PINK1) MANE Select	ENSP00000364204.3:p.Leu347Pro
ENST00000321556.4:c.1040T>C (PINK1)	ENSP00000364204.3:p.Leu347Pro
ENST00000400490.2:n.133T>C (PINK1)
ENST00000492302.1:n.2128T>C (PINK1)
NM_032409.2:c.1040T>C (PINK1)	NP_115785.1:p.Leu347Pro
NR_046507.1:n.3926A>G (PINK1-AS)
NM_032409.3:c.1040T>C (PINK1) MANE Select	NP_115785.1:p.Leu347Pro