Canonical Allele Identifier: CA340479808

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 1172180
• ClinVar RCV Id: RCV001525846 ; RCV002405215 ; RCV004008877
• dbSNP Id: rs2100330525
• gnomAD v4: 1-55059537-G-A
• MyVariant Identifiers: chr1:g.55525210G>A (hg19) ; chr1:g.55059537G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059537G>A , CM000663.2:g.55059537G>A	GRCh38
NC_000001.10:g.55525210G>A , CM000663.1:g.55525210G>A	GRCh37
NC_000001.9:g.55297798G>A	NCBI36
NG_009061.1:g.24991G>A , LRG_275:g.24991G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1555G>A	ENSP00000501161.2:p.Gly519Ser
ENST00000710286.1:c.1912G>A	ENSP00000518176.1:p.Gly638Ser
ENST00000673903.1:c.1180G>A	ENSP00000501257.1:p.Gly394Ser
ENST00000673913.1:c.295G>A	ENSP00000501161.1:p.Gly99Ser
ENST00000302118.5:c.1555G>A MANE Select	ENSP00000303208.5:p.Gly519Ser
ENST00000490692.1:n.2227+890G>A
NM_174936.3:c.1555G>A , LRG_275t1:c.1555G>A	NP_777596.2:p.Gly519Ser
NR_110451.1:n.1162G>A
XM_011541193.1:c.676G>A	XP_011539495.1:p.Gly226Ser
NM_174936.4:c.1555G>A MANE Select	NP_777596.2:p.Gly519Ser
NR_110451.2:n.1162G>A