Canonical Allele Identifier: CA660587
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

ClinVar Variation Id: 447942
ClinVar RCV Id: RCV000517984 RCV000726608 RCV000823919
dbSNP Id: rs139226733
ExAC: 1:20971158 A / T
gnomAD v2: 1-20971158-A-T
gnomAD v3: 1-20644665-A-T
gnomAD v4: 1-20644665-A-T
MyVariant Identifiers: chr1:g.20971158A>T (hg19) chr1:g.20644665A>T (hg38)
PubMed: PMID:15596610 PMID:16547921 PMID:16755580 PMID:19351622 PMID:21412950 PMID:22118943 PMID:22243833 PMID:22644621 PMID:24660942 PMID:27094865
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20644665A>T , CM000663.2:g.20644665A>T GRCh38
NC_000001.10:g.20971158A>T , CM000663.1:g.20971158A>T GRCh37
NC_000001.9:g.20843745A>T NCBI36
NG_008164.1:g.16211A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.952A>T (PINK1) MANE Select ENSP00000364204.3:p.Met318Leu
ENST00000321556.4:c.952A>T (PINK1) ENSP00000364204.3:p.Met318Leu
ENST00000492302.1:n.2040A>T (PINK1)
NM_032409.2:c.952A>T (PINK1) NP_115785.1:p.Met318Leu
NR_046507.1:n.3981+920T>A (PINK1-AS)
NM_032409.3:c.952A>T (PINK1) MANE Select NP_115785.1:p.Met318Leu
Search 100 bp 5'
Search 100 bp 3'