Canonical Allele Identifier: CA338833756
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000321556.5:c.1042G>C (PINK1) MANE Select ENSP00000364204.3:p.Glu348Gln
ENST00000321556.4:c.1042G>C (PINK1) ENSP00000364204.3:p.Glu348Gln
ENST00000400490.2:n.135G>C (PINK1)
ENST00000492302.1:n.2130G>C (PINK1)
NM_032409.2:c.1042G>C (PINK1) NP_115785.1:p.Glu348Gln
NR_046507.1:n.3924C>G (PINK1-AS)
NM_032409.3:c.1042G>C (PINK1) MANE Select NP_115785.1:p.Glu348Gln