Canonical Allele Identifier: CA660743
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.20648612G>A
GRCh37 chr1:g.20975105G>A
Revel Score:
ENST00000321556 (MANE Select) 0.429
gnomAD v2:
1:20975105 G / A
gnomAD v3:
1:20648612 G / A
gnomAD v4:
chr1-20648612-G-A
Joint Max Group AF 0.00092994 (NFE)
Genomes Max Group AF 0.00110134 (NFE)
Exomes Max Group AF 0.00090776 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20648612G>A , CM000663.2:g.20648612G>A GRCh38
NC_000001.10:g.20975105G>A , CM000663.1:g.20975105G>A GRCh37
NC_000001.9:g.20847692G>A NCBI36
NG_008164.1:g.20158G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.1231G>A (PINK1) MANE Select ENSP00000364204.3:p.Gly411Ser
ENST00000321556.4:c.1231G>A (PINK1) ENSP00000364204.3:p.Gly411Ser
ENST00000400490.2:n.324G>A (PINK1)
ENST00000492302.1:n.2319G>A (PINK1)
NM_032409.2:c.1231G>A (PINK1) NP_115785.1:p.Gly411Ser
NR_046507.1:n.3582C>T (PINK1-AS)
NM_032409.3:c.1231G>A (PINK1) MANE Select NP_115785.1:p.Gly411Ser
Search 100 bp 5'
Search 100 bp 3'