Canonical Allele Identifier: CA660656
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

dbSNP Id: rs778010106
ExAC: 1:20972062 T / A
gnomAD v2: 1-20972062-T-A
gnomAD v3: 1-20645569-T-A
gnomAD v4: 1-20645569-T-A
MyVariant Identifiers: chr1:g.20972062T>A (hg19) chr1:g.20645569T>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000321556.5:c.969T>A (PINK1) MANE Select ENSP00000364204.3:p.Cys323Ter
ENST00000321556.4:c.969T>A (PINK1) ENSP00000364204.3:p.Cys323Ter
ENST00000400490.2:n.62T>A (PINK1)
ENST00000492302.1:n.2057T>A (PINK1)
NM_032409.2:c.969T>A (PINK1) NP_115785.1:p.Cys323Ter
NR_046507.1:n.3981+16A>T (PINK1-AS)
NM_032409.3:c.969T>A (PINK1) MANE Select NP_115785.1:p.Cys323Ter
Search 100 bp 5'
Search 100 bp 3'