Canonical Allele Identifier: CA660344

Gene: PINK1 MIR6084

Linked Data

• ClinVar Variation Id: 262026
• ClinVar RCV Id: RCV000249312 ; RCV000576424 ; RCV001536653
• dbSNP Id: rs45530340
• ExAC: 1:20960230 C / T
• gnomAD v2: 1-20960230-C-T
• gnomAD v3: 1-20633737-C-T
• gnomAD v4: 1-20633737-C-T
• MyVariant Identifiers: chr1:g.20960230C>T (hg19) ; chr1:g.20633737C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.20633737C>T , CM000663.2:g.20633737C>T	GRCh38
NC_000001.10:g.20960230C>T , CM000663.1:g.20960230C>T	GRCh37
NC_000001.9:g.20832817C>T	NCBI36
NG_008164.1:g.5283C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321556.5:c.189C>T (PINK1) MANE Select	ENSP00000364204.3:p.Leu63=
ENST00000321556.4:c.189C>T (PINK1)	ENSP00000364204.3:p.Leu63=
NM_032409.2:c.189C>T (PINK1)	NP_115785.1:p.Leu63=
NR_106732.1:n.59C>T (MIR6084)
NM_032409.3:c.189C>T (PINK1) MANE Select	NP_115785.1:p.Leu63=