Canonical Allele Identifier: CA18956920

Gene: PINK1 PINK1-AS

Linked Data

• dbSNP Id: rs113910883
• gnomAD v2: 1-20972052-G-C
• gnomAD v4: 1-20645559-G-C
• MyVariant Identifiers: chr1:g.20972052G>C (hg19) ; chr1:g.20645559G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.20645559G>C , CM000663.2:g.20645559G>C	GRCh38
NC_000001.10:g.20972052G>C , CM000663.1:g.20972052G>C	GRCh37
NC_000001.9:g.20844639G>C	NCBI36
NG_008164.1:g.17105G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000321556.5:c.960-1G>C (PINK1) MANE Select	ENSP00000364204.3:n.960-1G>C
ENST00000321556.4:c.960-1G>C (PINK1)	ENSP00000364204.3:n.960-1G>C
ENST00000400490.2:n.52G>C (PINK1)
ENST00000492302.1:n.2048-1G>C (PINK1)
NM_032409.2:c.960-1G>C (PINK1)	NP_115785.1:n.960-1G>C
NR_046507.1:n.3981+26C>G (PINK1-AS)
NM_032409.3:c.960-1G>C (PINK1) MANE Select	NP_115785.1:n.960-1G>C