Canonical Allele Identifier: CA999332547

Gene: PINK1 PINK1-AS

Linked Data

• dbSNP Id: rs1570404632
• gnomAD v3: 1-20645478-A-C
• gnomAD v4: 1-20645478-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.20645478A>C , CM000663.2:g.20645478A>C	GRCh38
NC_000001.10:g.20971971A>C , CM000663.1:g.20971971A>C	GRCh37
NC_000001.9:g.20844558A>C	NCBI36
NG_008164.1:g.17024A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000321556.5:c.960-82A>C (PINK1) MANE Select	ENSP00000364204.3:n.960-82A>C
ENST00000321556.4:c.960-82A>C (PINK1)	ENSP00000364204.3:n.960-82A>C
ENST00000492302.1:n.2048-82A>C (PINK1)
NM_032409.2:c.960-82A>C (PINK1)	NP_115785.1:n.960-82A>C
NR_046507.1:n.3981+107T>G (PINK1-AS)
NM_032409.3:c.960-82A>C (PINK1) MANE Select	NP_115785.1:n.960-82A>C