Canonical Allele Identifier: CA660427

Gene: PINK1

Linked Data

• ClinVar Variation Id: 286781
• ClinVar RCV Id: RCV000287239 ; RCV000725899 ; RCV001037688
• dbSNP Id: rs45604240
• ExAC: 1:20964381 C / T
• gnomAD v2: 1-20964381-C-T
• gnomAD v3: 1-20637888-C-T
• gnomAD v4: 1-20637888-C-T
• MyVariant Identifiers: chr1:g.20964381C>T (hg19) ; chr1:g.20637888C>T (hg38)
• PubMed: PMID:18330912 ; PMID:18685134 ; PMID:23459931

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.20637888C>T , CM000663.2:g.20637888C>T	GRCh38
NC_000001.10:g.20964381C>T , CM000663.1:g.20964381C>T	GRCh37
NC_000001.9:g.20836968C>T	NCBI36
NG_008164.1:g.9434C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321556.5:c.434C>T MANE Select	ENSP00000364204.3:p.Thr145Met
ENST00000321556.4:c.434C>T	ENSP00000364204.3:p.Thr145Met
NM_032409.2:c.434C>T	NP_115785.1:p.Thr145Met
NM_032409.3:c.434C>T MANE Select	NP_115785.1:p.Thr145Met