Canonical Allele Identifier: CA521898821

Gene: PINK1 PINK1-AS

Linked Data

• dbSNP Id: rs1412406346
• gnomAD v2: 1-20971873-T-A
• gnomAD v3: 1-20645380-T-A
• gnomAD v4: 1-20645380-T-A
• MyVariant Identifiers: chr1:g.20971873T>A (hg19) ; chr1:g.20645380T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.20645380T>A , CM000663.2:g.20645380T>A	GRCh38
NC_000001.10:g.20971873T>A , CM000663.1:g.20971873T>A	GRCh37
NC_000001.9:g.20844460T>A	NCBI36
NG_008164.1:g.16926T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321556.5:c.960-180T>A (PINK1) MANE Select	ENSP00000364204.3:n.960-180T>A
ENST00000321556.4:c.960-180T>A (PINK1)	ENSP00000364204.3:n.960-180T>A
ENST00000492302.1:n.2048-180T>A (PINK1)
NM_032409.2:c.960-180T>A (PINK1)	NP_115785.1:n.960-180T>A
NR_046507.1:n.3981+205A>T (PINK1-AS)
NM_032409.3:c.960-180T>A (PINK1) MANE Select	NP_115785.1:n.960-180T>A