Canonical Allele Identifier: CA252278
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.20649109C>T
GRCh37 chr1:g.20975602C>T
gnomAD v2:
1:20975602 C / T
gnomAD v3:
1:20649109 C / T
gnomAD v4:
chr1-20649109-C-T
Joint Max Group AF 0.00004264 (NFE)
Genomes Max Group AF 0.00005841 (NFE)
Exomes Max Group AF 0.0000389 (NFE)
ClinVar RCV:
RCV000002516
RCV000627238
ClinVar Variation:
2415
dbSNP:
45539432
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20649109C>T , CM000663.2:g.20649109C>T GRCh38
NC_000001.10:g.20975602C>T , CM000663.1:g.20975602C>T GRCh37
NC_000001.9:g.20848189C>T NCBI36
NG_008164.1:g.20655C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.1366C>T (PINK1) MANE Select ENSP00000364204.3:p.Gln456Ter
ENST00000321556.4:c.1366C>T (PINK1) ENSP00000364204.3:p.Gln456Ter
ENST00000400490.2:n.459C>T (PINK1)
ENST00000492302.1:n.2816C>T (PINK1)
NM_032409.2:c.1366C>T (PINK1) NP_115785.1:p.Gln456Ter
NR_046507.1:n.3085G>A (PINK1-AS)
NM_032409.3:c.1366C>T (PINK1) MANE Select NP_115785.1:p.Gln456Ter
Search 100 bp 5'
Search 100 bp 3'