Canonical Allele Identifier: CA416488579

Gene: PINK1 PINK1-AS

Linked Data

• dbSNP Id: rs199678436
• gnomAD v2: 1-20972059-C-T
• gnomAD v4: 1-20645566-C-T
• MyVariant Identifiers: chr1:g.20972059C>T (hg19) ; chr1:g.20645566C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.20645566C>T , CM000663.2:g.20645566C>T	GRCh38
NC_000001.10:g.20972059C>T , CM000663.1:g.20972059C>T	GRCh37
NC_000001.9:g.20844646C>T	NCBI36
NG_008164.1:g.17112C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000321556.5:c.966C>T (PINK1) MANE Select	ENSP00000364204.3:p.Pro322=
ENST00000321556.4:c.966C>T (PINK1)	ENSP00000364204.3:p.Pro322=
ENST00000400490.2:n.59C>T (PINK1)
ENST00000492302.1:n.2054C>T (PINK1)
NM_032409.2:c.966C>T (PINK1)	NP_115785.1:p.Pro322=
NR_046507.1:n.3981+19G>A (PINK1-AS)
NM_032409.3:c.966C>T (PINK1) MANE Select	NP_115785.1:p.Pro322=