Canonical Allele Identifier: CA22792080

Gene: PCSK9

Linked Data

• dbSNP Id: rs773660398
• gnomAD v4: 1-55039967-G-A
• MyVariant Identifiers: chr1:g.55505640G>A (hg19) ; chr1:g.55039967G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039967G>A , CM000663.2:g.55039967G>A	GRCh38
NC_000001.10:g.55505640G>A , CM000663.1:g.55505640G>A	GRCh37
NC_000001.9:g.55278228G>A	NCBI36
NG_009061.1:g.5421G>A , LRG_275:g.5421G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.130G>A	ENSP00000501161.2:p.Ala44Thr
ENST00000710286.1:c.487G>A	ENSP00000518176.1:p.Ala163Thr
ENST00000673726.1:c.130G>A	ENSP00000501004.1:p.Ala44Thr
ENST00000302118.5:c.130G>A MANE Select	ENSP00000303208.5:p.Ala44Thr
NM_174936.3:c.130G>A , LRG_275t1:c.130G>A	NP_777596.2:p.Ala44Thr
NM_174936.4:c.130G>A MANE Select	NP_777596.2:p.Ala44Thr