Canonical Allele Identifier: CA521543053

Gene: PINK1 PINK1-AS

Linked Data

• dbSNP Id: rs1488487690
• gnomAD v2: 1-20971841-G-T
• gnomAD v3: 1-20645348-G-T
• gnomAD v4: 1-20645348-G-T
• MyVariant Identifiers: chr1:g.20971841G>T (hg19) ; chr1:g.20645348G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.20645348G>T , CM000663.2:g.20645348G>T	GRCh38
NC_000001.10:g.20971841G>T , CM000663.1:g.20971841G>T	GRCh37
NC_000001.9:g.20844428G>T	NCBI36
NG_008164.1:g.16894G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321556.5:c.960-212G>T (PINK1) MANE Select	ENSP00000364204.3:n.960-212G>T
ENST00000321556.4:c.960-212G>T (PINK1)	ENSP00000364204.3:n.960-212G>T
ENST00000492302.1:n.2048-212G>T (PINK1)
NM_032409.2:c.960-212G>T (PINK1)	NP_115785.1:n.960-212G>T
NR_046507.1:n.3981+237C>A (PINK1-AS)
NM_032409.3:c.960-212G>T (PINK1) MANE Select	NP_115785.1:n.960-212G>T