Canonical Allele Identifier: CA660674

Gene: PINK1 PINK1-AS

Linked Data

• dbSNP Id: rs764648391
• ExAC: 1:20972141 G / A
• gnomAD v2: 1-20972141-G-A
• gnomAD v3: 1-20645648-G-A
• gnomAD v4: 1-20645648-G-A
• COSMIC: COSM1928998
• MyVariant Identifiers: chr1:g.20972141G>A (hg19) ; chr1:g.20645648G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.20645648G>A , CM000663.2:g.20645648G>A	GRCh38
NC_000001.10:g.20972141G>A , CM000663.1:g.20972141G>A	GRCh37
NC_000001.9:g.20844728G>A	NCBI36
NG_008164.1:g.17194G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321556.5:c.1048G>A (PINK1) MANE Select	ENSP00000364204.3:p.Val350Met
ENST00000321556.4:c.1048G>A (PINK1)	ENSP00000364204.3:p.Val350Met
ENST00000400490.2:n.141G>A (PINK1)
ENST00000492302.1:n.2136G>A (PINK1)
NM_032409.2:c.1048G>A (PINK1)	NP_115785.1:p.Val350Met
NR_046507.1:n.3918C>T (PINK1-AS)
NM_032409.3:c.1048G>A (PINK1) MANE Select	NP_115785.1:p.Val350Met