Canonical Allele Identifier: CA340480652

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 3070977
• ClinVar RCV Id: RCV004014479
• dbSNP Id: rs1295327841
• gnomAD v3: 1-55063421-C-G
• gnomAD v4: 1-55063421-C-G
• MyVariant Identifiers: chr1:g.55529094C>G (hg19) ; chr1:g.55063421C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063421C>G , CM000663.2:g.55063421C>G	GRCh38
NC_000001.10:g.55529094C>G , CM000663.1:g.55529094C>G	GRCh37
NC_000001.9:g.55301682C>G	NCBI36
NG_009061.1:g.28875C>G , LRG_275:g.28875C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*256C>G	ENSP00000501161.2:n.*256C>G
ENST00000710286.1:c.2273C>G	ENSP00000518176.1:p.Pro758Arg
ENST00000673903.1:c.1541C>G	ENSP00000501257.1:p.Pro514Arg
ENST00000673913.1:c.766C>G	ENSP00000501161.1:n.766C>G
ENST00000302118.5:c.1916C>G MANE Select	ENSP00000303208.5:p.Pro639Arg
ENST00000490692.1:n.2462C>G
NM_174936.3:c.1916C>G , LRG_275t1:c.1916C>G	NP_777596.2:p.Pro639Arg
NR_110451.1:n.1523C>G
XM_011541193.1:c.1037C>G	XP_011539495.1:p.Pro346Arg
NM_174936.4:c.1916C>G MANE Select	NP_777596.2:p.Pro639Arg
NR_110451.2:n.1523C>G