Canonical Allele Identifier: CA18956477

Gene: PINK1 PINK1-AS

Linked Data

• dbSNP Id: rs559882164
• gnomAD v2: 1-20971809-C-G
• gnomAD v3: 1-20645316-C-G
• gnomAD v4: 1-20645316-C-G
• MyVariant Identifiers: chr1:g.20971809C>G (hg19) ; chr1:g.20645316C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.20645316C>G , CM000663.2:g.20645316C>G	GRCh38
NC_000001.10:g.20971809C>G , CM000663.1:g.20971809C>G	GRCh37
NC_000001.9:g.20844396C>G	NCBI36
NG_008164.1:g.16862C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321556.5:c.960-244C>G (PINK1) MANE Select	ENSP00000364204.3:n.960-244C>G
ENST00000321556.4:c.960-244C>G (PINK1)	ENSP00000364204.3:n.960-244C>G
ENST00000492302.1:n.2048-244C>G (PINK1)
NM_032409.2:c.960-244C>G (PINK1)	NP_115785.1:n.960-244C>G
NR_046507.1:n.3981+269G>C (PINK1-AS)
NM_032409.3:c.960-244C>G (PINK1) MANE Select	NP_115785.1:n.960-244C>G