Canonical Allele Identifier: CA252282
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.20648577C>T
GRCh37 chr1:g.20975070C>T
Revel Score:
ENST00000321556 (MANE Select) 0.468
gnomAD v2:
1:20975070 C / T
gnomAD v3:
1:20648577 C / T
gnomAD v4:
chr1-20648577-C-T
Joint Max Group AF 0.00005136 (SAS)
Genomes Max Group AF 0.0000729 (SAS)
Exomes Max Group AF 0.00003765 (SAS)
ClinVar RCV:
RCV000002518
RCV000372794
ClinVar Variation:
2417
dbSNP:
119451946
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20648577C>T , CM000663.2:g.20648577C>T GRCh38
NC_000001.10:g.20975070C>T , CM000663.1:g.20975070C>T GRCh37
NC_000001.9:g.20847657C>T NCBI36
NG_008164.1:g.20123C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.1196C>T (PINK1) MANE Select ENSP00000364204.3:p.Pro399Leu
ENST00000321556.4:c.1196C>T (PINK1) ENSP00000364204.3:p.Pro399Leu
ENST00000400490.2:n.289C>T (PINK1)
ENST00000492302.1:n.2284C>T (PINK1)
NM_032409.2:c.1196C>T (PINK1) NP_115785.1:p.Pro399Leu
NR_046507.1:n.3617G>A (PINK1-AS)
NM_032409.3:c.1196C>T (PINK1) MANE Select NP_115785.1:p.Pro399Leu
Search 100 bp 5'
Search 100 bp 3'