Canonical Allele Identifier: CA660655
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

ClinVar Variation Id: 1403093
ClinVar RCV Id: RCV001908877
dbSNP Id: rs373417787
ExAC: 1:20972061 G / A
gnomAD v2: 1-20972061-G-A
gnomAD v3: 1-20645568-G-A
gnomAD v4: 1-20645568-G-A
MyVariant Identifiers: chr1:g.20972061G>A (hg19) chr1:g.20645568G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645568G>A , CM000663.2:g.20645568G>A GRCh38
NC_000001.10:g.20972061G>A , CM000663.1:g.20972061G>A GRCh37
NC_000001.9:g.20844648G>A NCBI36
NG_008164.1:g.17114G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000321556.5:c.968G>A (PINK1) MANE Select ENSP00000364204.3:p.Cys323Tyr
ENST00000321556.4:c.968G>A (PINK1) ENSP00000364204.3:p.Cys323Tyr
ENST00000400490.2:n.61G>A (PINK1)
ENST00000492302.1:n.2056G>A (PINK1)
NM_032409.2:c.968G>A (PINK1) NP_115785.1:p.Cys323Tyr
NR_046507.1:n.3981+17C>T (PINK1-AS)
NM_032409.3:c.968G>A (PINK1) MANE Select NP_115785.1:p.Cys323Tyr
Search 100 bp 5'
Search 100 bp 3'