Canonical Allele Identifier: CA521543053
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

dbSNP Id: rs1488487690
gnomAD v2: 1-20971841-G-T
gnomAD v3: 1-20645348-G-T
gnomAD v4: 1-20645348-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645348G>T , CM000663.2:g.20645348G>T GRCh38
NC_000001.10:g.20971841G>T , CM000663.1:g.20971841G>T GRCh37
NC_000001.9:g.20844428G>T NCBI36
NG_008164.1:g.16894G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.960-212G>T (PINK1) MANE Select ENSP00000364204.3:n.960-212G>T
ENST00000321556.4:c.960-212G>T (PINK1) ENSP00000364204.3:n.960-212G>T
ENST00000492302.1:n.2048-212G>T (PINK1)
NM_032409.2:c.960-212G>T (PINK1) NP_115785.1:n.960-212G>T
NR_046507.1:n.3981+237C>A (PINK1-AS)
NM_032409.3:c.960-212G>T (PINK1) MANE Select NP_115785.1:n.960-212G>T