Canonical Allele Identifier: CA252276
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.20644651C>T
GRCh37 chr1:g.20971144C>T
Revel Score:
ENST00000321556 (MANE Select) 0.564
gnomAD v2:
1:20971144 C / T
gnomAD v3:
1:20644651 C / T
gnomAD v4:
chr1-20644651-C-T
Joint Max Group AF 0.00007258 (EAS)
Genomes Max Group AF 0.00007287 (SAS)
Exomes Max Group AF 0.0000651 (EAS)
ClinVar RCV:
RCV000002514
ClinVar Variation:
2413
dbSNP:
74315359
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20644651C>T , CM000663.2:g.20644651C>T GRCh38
NC_000001.10:g.20971144C>T , CM000663.1:g.20971144C>T GRCh37
NC_000001.9:g.20843731C>T NCBI36
NG_008164.1:g.16197C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.938C>T (PINK1) MANE Select ENSP00000364204.3:p.Thr313Met
ENST00000321556.4:c.938C>T (PINK1) ENSP00000364204.3:p.Thr313Met
ENST00000492302.1:n.2026C>T (PINK1)
NM_032409.2:c.938C>T (PINK1) NP_115785.1:p.Thr313Met
NR_046507.1:n.3981+934G>A (PINK1-AS)
NM_032409.3:c.938C>T (PINK1) MANE Select NP_115785.1:p.Thr313Met
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