Canonical Allele Identifier: CA252270
Gene: PINK1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.20639952C>T
GRCh37 chr1:g.20966445C>T
gnomAD v2:
1:20966445 C / T
gnomAD v3:
1:20639952 C / T
gnomAD v4:
chr1-20639952-C-T
Joint Max Group AF 0.00004346 (EAS)
Exomes Max Group AF 0.00003349 (EAS)
ClinVar RCV:
RCV000002508
ClinVar Variation:
2407
dbSNP:
74315357
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20639952C>T , CM000663.2:g.20639952C>T GRCh38
NC_000001.10:g.20966445C>T , CM000663.1:g.20966445C>T GRCh37
NC_000001.9:g.20839032C>T NCBI36
NG_008164.1:g.11498C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.736C>T MANE Select ENSP00000364204.3:p.Arg246Ter
ENST00000321556.4:c.736C>T ENSP00000364204.3:p.Arg246Ter
ENST00000492302.1:n.1824C>T
NM_032409.2:c.736C>T NP_115785.1:p.Arg246Ter
NM_032409.3:c.736C>T MANE Select NP_115785.1:p.Arg246Ter
Search 100 bp 5'
Search 100 bp 3'