Canonical Allele Identifier: CA660675
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.20645648G>C
GRCh37 chr1:g.20972141G>C
Revel Score:
ENST00000321556 (MANE Select) 0.322
gnomAD v2:
1:20972141 G / C
gnomAD v4:
chr1-20645648-G-C
Joint Max Group AF 0.00044271 (EAS)
Exomes Max Group AF 0.00050074 (EAS)
ClinVar RCV:
RCV005162200
ClinVar Variation:
3686783
dbSNP:
764648391
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645648G>C , CM000663.2:g.20645648G>C GRCh38
NC_000001.10:g.20972141G>C , CM000663.1:g.20972141G>C GRCh37
NC_000001.9:g.20844728G>C NCBI36
NG_008164.1:g.17194G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.1048G>C (PINK1) MANE Select ENSP00000364204.3:p.Val350Leu
ENST00000321556.4:c.1048G>C (PINK1) ENSP00000364204.3:p.Val350Leu
ENST00000400490.2:n.141G>C (PINK1)
ENST00000492302.1:n.2136G>C (PINK1)
NM_032409.2:c.1048G>C (PINK1) NP_115785.1:p.Val350Leu
NR_046507.1:n.3918C>G (PINK1-AS)
NM_032409.3:c.1048G>C (PINK1) MANE Select NP_115785.1:p.Val350Leu
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