Canonical Allele Identifier: CA730519509

Gene: PINK1 PINK1-AS

Linked Data

• dbSNP Id: rs1374523743
• gnomAD v3: 1-20645246-T-C
• gnomAD v4: 1-20645246-T-C
• MyVariant Identifiers: chr1:g.20971739T>C (hg19) ; chr1:g.20645246T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.20645246T>C , CM000663.2:g.20645246T>C	GRCh38
NC_000001.10:g.20971739T>C , CM000663.1:g.20971739T>C	GRCh37
NC_000001.9:g.20844326T>C	NCBI36
NG_008164.1:g.16792T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321556.5:c.960-314T>C (PINK1) MANE Select	ENSP00000364204.3:n.960-314T>C
ENST00000321556.4:c.960-314T>C (PINK1)	ENSP00000364204.3:n.960-314T>C
ENST00000492302.1:n.2048-314T>C (PINK1)
NM_032409.2:c.960-314T>C (PINK1)	NP_115785.1:n.960-314T>C
NR_046507.1:n.3981+339A>G (PINK1-AS)
NM_032409.3:c.960-314T>C (PINK1) MANE Select	NP_115785.1:n.960-314T>C