Canonical Allele Identifier: CA252268
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.20649054G>A
GRCh37 chr1:g.20975547G>A
gnomAD v2:
1:20975547 G / A
gnomAD v3:
1:20649054 G / A
gnomAD v4:
chr1-20649054-G-A
Joint Max Group AF 0.00000292 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
ClinVar RCV:
RCV000002507
ClinVar Variation:
2406
dbSNP:
74315356
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20649054G>A , CM000663.2:g.20649054G>A GRCh38
NC_000001.10:g.20975547G>A , CM000663.1:g.20975547G>A GRCh37
NC_000001.9:g.20848134G>A NCBI36
NG_008164.1:g.20600G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.1311G>A (PINK1) MANE Select ENSP00000364204.3:p.Trp437Ter
ENST00000321556.4:c.1311G>A (PINK1) ENSP00000364204.3:p.Trp437Ter
ENST00000400490.2:n.404G>A (PINK1)
ENST00000492302.1:n.2761G>A (PINK1)
NM_032409.2:c.1311G>A (PINK1) NP_115785.1:p.Trp437Ter
NR_046507.1:n.3140C>T (PINK1-AS)
NM_032409.3:c.1311G>A (PINK1) MANE Select NP_115785.1:p.Trp437Ter
Search 100 bp 5'
Search 100 bp 3'