Canonical Allele Identifier: CA660883
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.20650507A>C
GRCh37 chr1:g.20977000A>C
Revel Score:
ENST00000321556 (MANE Select) 0.040
gnomAD v2:
1:20977000 A / C
gnomAD v3:
1:20650507 A / C
gnomAD v4:
chr1-20650507-A-C
Joint Max Group AF 0.37286779 (SAS)
Genomes Max Group AF 0.36712057 (SAS)
Exomes Max Group AF 0.37247369 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20650507A>C , CM000663.2:g.20650507A>C GRCh38
NC_000001.10:g.20977000A>C , CM000663.1:g.20977000A>C GRCh37
NC_000001.9:g.20849587A>C NCBI36
NG_008164.1:g.22053A>C
NG_032064.1:g.16038T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.1562A>C (PINK1) MANE Select ENSP00000364204.3:p.Asn521Thr
ENST00000321556.4:c.1562A>C (PINK1) ENSP00000364204.3:p.Asn521Thr
ENST00000400490.2:n.655A>C (PINK1)
ENST00000492302.1:n.3012A>C (PINK1)
NM_032409.2:c.1562A>C (PINK1) NP_115785.1:p.Asn521Thr
NR_046507.1:n.1687T>G (PINK1-AS)
NM_032409.3:c.1562A>C (PINK1) MANE Select NP_115785.1:p.Asn521Thr
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