Canonical Allele Identifier: CA660718
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

dbSNP Id: rs777060019

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20648526T>G , CM000663.2:g.20648526T>G GRCh38
NC_000001.10:g.20975019T>G , CM000663.1:g.20975019T>G GRCh37
NC_000001.9:g.20847606T>G NCBI36
NG_008164.1:g.20072T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.1145T>G (PINK1) MANE Select ENSP00000364204.3:p.Ile382Ser
ENST00000321556.4:c.1145T>G (PINK1) ENSP00000364204.3:p.Ile382Ser
ENST00000400490.2:n.238T>G (PINK1)
ENST00000492302.1:n.2233T>G (PINK1)
NM_032409.2:c.1145T>G (PINK1) NP_115785.1:p.Ile382Ser
NR_046507.1:n.3668A>C (PINK1-AS)
NM_032409.3:c.1145T>G (PINK1) MANE Select NP_115785.1:p.Ile382Ser