Canonical Allele Identifier: CA18960501

Gene: PINK1 PINK1-AS

Linked Data

• dbSNP Id: rs55962214
• gnomAD v2: 1-20975014-G-A
• gnomAD v3: 1-20648521-G-A
• gnomAD v4: 1-20648521-G-A
• MyVariant Identifiers: chr1:g.20975014G>A (hg19) ; chr1:g.20648521G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.20648521G>A , CM000663.2:g.20648521G>A	GRCh38
NC_000001.10:g.20975014G>A , CM000663.1:g.20975014G>A	GRCh37
NC_000001.9:g.20847601G>A	NCBI36
NG_008164.1:g.20067G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321556.5:c.1140G>A (PINK1) MANE Select	ENSP00000364204.3:p.Leu380=
ENST00000321556.4:c.1140G>A (PINK1)	ENSP00000364204.3:p.Leu380=
ENST00000400490.2:n.233G>A (PINK1)
ENST00000492302.1:n.2228G>A (PINK1)
NM_032409.2:c.1140G>A (PINK1)	NP_115785.1:p.Leu380=
NR_046507.1:n.3673C>T (PINK1-AS)
NM_032409.3:c.1140G>A (PINK1) MANE Select	NP_115785.1:p.Leu380=