Canonical Allele Identifier: CA18956883
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

dbSNP Id: rs988870376
gnomAD v4: 1-20645554-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645554C>T , CM000663.2:g.20645554C>T GRCh38
NC_000001.10:g.20972047C>T , CM000663.1:g.20972047C>T GRCh37
NC_000001.9:g.20844634C>T NCBI36
NG_008164.1:g.17100C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000321556.5:c.960-6C>T (PINK1) MANE Select ENSP00000364204.3:n.960-6C>T
ENST00000321556.4:c.960-6C>T (PINK1) ENSP00000364204.3:n.960-6C>T
ENST00000400490.2:n.47C>T (PINK1)
ENST00000492302.1:n.2048-6C>T (PINK1)
NM_032409.2:c.960-6C>T (PINK1) NP_115785.1:n.960-6C>T
NR_046507.1:n.3981+31G>A (PINK1-AS)
NM_032409.3:c.960-6C>T (PINK1) MANE Select NP_115785.1:n.960-6C>T