Canonical Allele Identifier: CA340483763

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 3070631
• ClinVar RCV Id: RCV004013141
• dbSNP Id: rs1644616214
• gnomAD v4: 1-55043973-A-G
• MyVariant Identifiers: chr1:g.55509646A>G (hg19) ; chr1:g.55043973A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55043973A>G , CM000663.2:g.55043973A>G	GRCh38
NC_000001.10:g.55509646A>G , CM000663.1:g.55509646A>G	GRCh37
NC_000001.9:g.55282234A>G	NCBI36
NG_009061.1:g.9427A>G , LRG_275:g.9427A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.338A>G	ENSP00000501161.2:p.His113Arg
ENST00000710286.1:c.695A>G	ENSP00000518176.1:p.His232Arg
ENST00000673662.1:n.8A>G
ENST00000673726.1:c.338A>G	ENSP00000501004.1:p.His113Arg
ENST00000673903.1:c.-38A>G	ENSP00000501257.1:n.-38A>G
ENST00000302118.5:c.338A>G MANE Select	ENSP00000303208.5:p.His113Arg
NM_174936.3:c.338A>G , LRG_275t1:c.338A>G	NP_777596.2:p.His113Arg
NR_110451.1:n.182+3570A>G
NM_174936.4:c.338A>G MANE Select	NP_777596.2:p.His113Arg
NR_110451.2:n.182+3570A>G