Canonical Allele Identifier: CA660581
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

ClinVar Variation Id: 465847
ClinVar RCV Id: RCV000543639 RCV003482283
dbSNP Id: rs202128685
ExAC: 1:20971141 G / A
gnomAD v2: 1-20971141-G-A
gnomAD v3: 1-20644648-G-A
gnomAD v4: 1-20644648-G-A
MyVariant Identifiers: chr1:g.20971141G>A (hg19) chr1:g.20971141_20971159delinsAGACGCTGTTCCTCGTTAT (hg19) chr1:g.20644648G>A (hg38) chr1:g.20644648_20644666delinsAGACGCTGTTCCTCGTTAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20644648G>A , CM000663.2:g.20644648G>A GRCh38
NC_000001.10:g.20971141G>A , CM000663.1:g.20971141G>A GRCh37
NC_000001.9:g.20843728G>A NCBI36
NG_008164.1:g.16194G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.935G>A (PINK1) MANE Select ENSP00000364204.3:p.Arg312Gln
ENST00000321556.4:c.935G>A (PINK1) ENSP00000364204.3:p.Arg312Gln
ENST00000492302.1:n.2023G>A (PINK1)
NM_032409.2:c.935G>A (PINK1) NP_115785.1:p.Arg312Gln
NR_046507.1:n.3981+937C>T (PINK1-AS)
NM_032409.3:c.935G>A (PINK1) MANE Select NP_115785.1:p.Arg312Gln
Search 100 bp 5'
Search 100 bp 3'