Canonical Allele Identifier: CA1157634548
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

dbSNP Id: rs2053167756
gnomAD v4: 1-20645504-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645504A>C , CM000663.2:g.20645504A>C GRCh38
NC_000001.10:g.20971997A>C , CM000663.1:g.20971997A>C GRCh37
NC_000001.9:g.20844584A>C NCBI36
NG_008164.1:g.17050A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.960-56A>C (PINK1) MANE Select ENSP00000364204.3:n.960-56A>C
ENST00000321556.4:c.960-56A>C (PINK1) ENSP00000364204.3:n.960-56A>C
ENST00000492302.1:n.2048-56A>C (PINK1)
NM_032409.2:c.960-56A>C (PINK1) NP_115785.1:n.960-56A>C
NR_046507.1:n.3981+81T>G (PINK1-AS)
NM_032409.3:c.960-56A>C (PINK1) MANE Select NP_115785.1:n.960-56A>C