Canonical Allele Identifier: CA660717
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

dbSNP Id: rs768758677
ExAC: 1:20975018 A / G
gnomAD v2: 1-20975018-A-G
gnomAD v4: 1-20648525-A-G
MyVariant Identifiers: chr1:g.20975018A>G (hg19) chr1:g.20648525A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20648525A>G , CM000663.2:g.20648525A>G GRCh38
NC_000001.10:g.20975018A>G , CM000663.1:g.20975018A>G GRCh37
NC_000001.9:g.20847605A>G NCBI36
NG_008164.1:g.20071A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.1144A>G (PINK1) MANE Select ENSP00000364204.3:p.Ile382Val
ENST00000321556.4:c.1144A>G (PINK1) ENSP00000364204.3:p.Ile382Val
ENST00000400490.2:n.237A>G (PINK1)
ENST00000492302.1:n.2232A>G (PINK1)
NM_032409.2:c.1144A>G (PINK1) NP_115785.1:p.Ile382Val
NR_046507.1:n.3669T>C (PINK1-AS)
NM_032409.3:c.1144A>G (PINK1) MANE Select NP_115785.1:p.Ile382Val
Search 100 bp 5'
Search 100 bp 3'