Canonical Allele Identifier: CA730519631
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

dbSNP Id: rs1300923949
gnomAD v4: 1-20645452-G-A
MyVariant Identifiers: chr1:g.20971945G>A (hg19) chr1:g.20645452G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645452G>A , CM000663.2:g.20645452G>A GRCh38
NC_000001.10:g.20971945G>A , CM000663.1:g.20971945G>A GRCh37
NC_000001.9:g.20844532G>A NCBI36
NG_008164.1:g.16998G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000321556.5:c.960-108G>A (PINK1) MANE Select ENSP00000364204.3:n.960-108G>A
ENST00000321556.4:c.960-108G>A (PINK1) ENSP00000364204.3:n.960-108G>A
ENST00000492302.1:n.2048-108G>A (PINK1)
NM_032409.2:c.960-108G>A (PINK1) NP_115785.1:n.960-108G>A
NR_046507.1:n.3981+133C>T (PINK1-AS)
NM_032409.3:c.960-108G>A (PINK1) MANE Select NP_115785.1:n.960-108G>A
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