Canonical Allele Identifier: CA660443
Gene: PINK1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.20637956G>C
GRCh37 chr1:g.20964449G>C
Revel Score:
ENST00000321556 (MANE Select) 0.750
gnomAD v2:
1:20964449 G / C
gnomAD v4:
chr1-20637956-G-C
Joint Max Group AF 0.00000429 (NFE)
Exomes Max Group AF 0.00000455 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20637956G>C , CM000663.2:g.20637956G>C GRCh38
NC_000001.10:g.20964449G>C , CM000663.1:g.20964449G>C GRCh37
NC_000001.9:g.20837036G>C NCBI36
NG_008164.1:g.9502G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.502G>C MANE Select ENSP00000364204.3:p.Ala168Pro
ENST00000321556.4:c.502G>C ENSP00000364204.3:p.Ala168Pro
NM_032409.2:c.502G>C NP_115785.1:p.Ala168Pro
NM_032409.3:c.502G>C MANE Select NP_115785.1:p.Ala168Pro
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