Canonical Allele Identifier: CA416489586
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

dbSNP Id: rs2053215020
gnomAD v4: 1-20648445-G-A
COSMIC: COSN25107463
MyVariant Identifiers: chr1:g.20974938G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20648445G>A , CM000663.2:g.20648445G>A GRCh38
NC_000001.10:g.20974938G>A , CM000663.1:g.20974938G>A GRCh37
NC_000001.9:g.20847525G>A NCBI36
NG_008164.1:g.19991G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.1124-60G>A (PINK1) MANE Select ENSP00000364204.3:n.1124-60G>A
ENST00000321556.4:c.1124-60G>A (PINK1) ENSP00000364204.3:n.1124-60G>A
ENST00000400490.2:n.217-60G>A (PINK1)
ENST00000492302.1:n.2212-60G>A (PINK1)
NM_032409.2:c.1124-60G>A (PINK1) NP_115785.1:n.1124-60G>A
NR_046507.1:n.3749C>T (PINK1-AS)
NM_032409.3:c.1124-60G>A (PINK1) MANE Select NP_115785.1:n.1124-60G>A
Search 100 bp 5'
Search 100 bp 3'