Canonical Allele Identifier: CA338836400

Gene: PINK1 PINK1-AS

Linked Data

• dbSNP Id: rs777060019
• gnomAD v2: 1-20975019-T-C
• gnomAD v4: 1-20648526-T-C
• COSMIC: COSM3369524
• MyVariant Identifiers: chr1:g.20975019T>C (hg19) ; chr1:g.20648526T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.20648526T>C , CM000663.2:g.20648526T>C	GRCh38
NC_000001.10:g.20975019T>C , CM000663.1:g.20975019T>C	GRCh37
NC_000001.9:g.20847606T>C	NCBI36
NG_008164.1:g.20072T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321556.5:c.1145T>C (PINK1) MANE Select	ENSP00000364204.3:p.Ile382Thr
ENST00000321556.4:c.1145T>C (PINK1)	ENSP00000364204.3:p.Ile382Thr
ENST00000400490.2:n.238T>C (PINK1)
ENST00000492302.1:n.2233T>C (PINK1)
NM_032409.2:c.1145T>C (PINK1)	NP_115785.1:p.Ile382Thr
NR_046507.1:n.3668A>G (PINK1-AS)
NM_032409.3:c.1145T>C (PINK1) MANE Select	NP_115785.1:p.Ile382Thr