Canonical Allele Identifier: CA730519899
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

dbSNP Id: rs760248764
gnomAD v3: 1-20645542-C-T
gnomAD v4: 1-20645542-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645542C>T , CM000663.2:g.20645542C>T GRCh38
NC_000001.10:g.20972035C>T , CM000663.1:g.20972035C>T GRCh37
NC_000001.9:g.20844622C>T NCBI36
NG_008164.1:g.17088C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000321556.5:c.960-18C>T (PINK1) MANE Select ENSP00000364204.3:n.960-18C>T
ENST00000321556.4:c.960-18C>T (PINK1) ENSP00000364204.3:n.960-18C>T
ENST00000400490.2:n.35C>T (PINK1)
ENST00000492302.1:n.2048-18C>T (PINK1)
NM_032409.2:c.960-18C>T (PINK1) NP_115785.1:n.960-18C>T
NR_046507.1:n.3981+43G>A (PINK1-AS)
NM_032409.3:c.960-18C>T (PINK1) MANE Select NP_115785.1:n.960-18C>T