Canonical Allele Identifier: CA338833749
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645642G>A , CM000663.2:g.20645642G>A GRCh38
NC_000001.10:g.20972135G>A , CM000663.1:g.20972135G>A GRCh37
NC_000001.9:g.20844722G>A NCBI36
NG_008164.1:g.17188G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000321556.5:c.1042G>A (PINK1) MANE Select ENSP00000364204.3:p.Glu348Lys
ENST00000321556.4:c.1042G>A (PINK1) ENSP00000364204.3:p.Glu348Lys
ENST00000400490.2:n.135G>A (PINK1)
ENST00000492302.1:n.2130G>A (PINK1)
NM_032409.2:c.1042G>A (PINK1) NP_115785.1:p.Glu348Lys
NR_046507.1:n.3924C>T (PINK1-AS)
NM_032409.3:c.1042G>A (PINK1) MANE Select NP_115785.1:p.Glu348Lys