Canonical Allele Identifier: CA252267
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.20644526C>A
GRCh37 chr1:g.20971019C>A
Revel Score:
ENST00000321556 (MANE Select) 0.770
ClinVar RCV:
RCV000002506
ClinVar Variation:
2405
dbSNP:
28940284
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20644526C>A , CM000663.2:g.20644526C>A GRCh38
NC_000001.10:g.20971019C>A , CM000663.1:g.20971019C>A GRCh37
NC_000001.9:g.20843606C>A NCBI36
NG_008164.1:g.16072C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.813C>A (PINK1) MANE Select ENSP00000364204.3:p.His271Gln
ENST00000321556.4:c.813C>A (PINK1) ENSP00000364204.3:p.His271Gln
ENST00000492302.1:n.1901C>A (PINK1)
NM_032409.2:c.813C>A (PINK1) NP_115785.1:p.His271Gln
NR_046507.1:n.3981+1059G>T (PINK1-AS)
NM_032409.3:c.813C>A (PINK1) MANE Select NP_115785.1:p.His271Gln
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