Canonical Allele Identifier: CA416489605

Gene: PINK1 PINK1-AS

Linked Data

• dbSNP Id: rs1427975696
• gnomAD v3: 1-20648450-C-G
• gnomAD v4: 1-20648450-C-G
• MyVariant Identifiers: chr1:g.20974943C>G (hg19) ; chr1:g.20648450C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.20648450C>G , CM000663.2:g.20648450C>G	GRCh38
NC_000001.10:g.20974943C>G , CM000663.1:g.20974943C>G	GRCh37
NC_000001.9:g.20847530C>G	NCBI36
NG_008164.1:g.19996C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000321556.5:c.1124-55C>G (PINK1) MANE Select	ENSP00000364204.3:n.1124-55C>G
ENST00000321556.4:c.1124-55C>G (PINK1)	ENSP00000364204.3:n.1124-55C>G
ENST00000400490.2:n.217-55C>G (PINK1)
ENST00000492302.1:n.2212-55C>G (PINK1)
NM_032409.2:c.1124-55C>G (PINK1)	NP_115785.1:n.1124-55C>G
NR_046507.1:n.3744G>C (PINK1-AS)
NM_032409.3:c.1124-55C>G (PINK1) MANE Select	NP_115785.1:n.1124-55C>G