Canonical Allele Identifier: CA416488583
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

dbSNP Id: rs778010106
gnomAD v2: 1-20972062-T-C
gnomAD v4: 1-20645569-T-C
MyVariant Identifiers: chr1:g.20972062T>C (hg19) chr1:g.20645569T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645569T>C , CM000663.2:g.20645569T>C GRCh38
NC_000001.10:g.20972062T>C , CM000663.1:g.20972062T>C GRCh37
NC_000001.9:g.20844649T>C NCBI36
NG_008164.1:g.17115T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000321556.5:c.969T>C (PINK1) MANE Select ENSP00000364204.3:p.Cys323=
ENST00000321556.4:c.969T>C (PINK1) ENSP00000364204.3:p.Cys323=
ENST00000400490.2:n.62T>C (PINK1)
ENST00000492302.1:n.2057T>C (PINK1)
NM_032409.2:c.969T>C (PINK1) NP_115785.1:p.Cys323=
NR_046507.1:n.3981+16A>G (PINK1-AS)
NM_032409.3:c.969T>C (PINK1) MANE Select NP_115785.1:p.Cys323=
Search 100 bp 5'
Search 100 bp 3'