Canonical Allele Identifier: CA660409
Gene: PINK1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.20637835A>G
GRCh37 chr1:g.20964328A>G
gnomAD v2:
1:20964328 A / G
gnomAD v3:
1:20637835 A / G
gnomAD v4:
chr1-20637835-A-G
Joint Max Group AF 0.88997178 (MID)
Genomes Max Group AF 0.87216346 (NFE)
Exomes Max Group AF 0.89009522 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20637835A>G , CM000663.2:g.20637835A>G GRCh38
NC_000001.10:g.20964328A>G , CM000663.1:g.20964328A>G GRCh37
NC_000001.9:g.20836915A>G NCBI36
NG_008164.1:g.9381A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.388-7A>G MANE Select ENSP00000364204.3:n.388-7A>G
ENST00000321556.4:c.388-7A>G ENSP00000364204.3:n.388-7A>G
NM_032409.2:c.388-7A>G NP_115785.1:n.388-7A>G
NM_032409.3:c.388-7A>G MANE Select NP_115785.1:n.388-7A>G
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