Canonical Allele Identifier: CA417960723

Gene: PCSK9

Linked Data

• dbSNP Id: rs1644779282
• gnomAD v4: 1-55063569-C-G
• MyVariant Identifiers: chr1:g.55529242C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063569C>G , CM000663.2:g.55063569C>G	GRCh38
NC_000001.10:g.55529242C>G , CM000663.1:g.55529242C>G	GRCh37
NC_000001.9:g.55301830C>G	NCBI36
NG_009061.1:g.29023C>G , LRG_275:g.29023C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*404C>G	ENSP00000501161.2:n.*404C>G
ENST00000710286.1:c.2421C>G	ENSP00000518176.1:p.Ser807=
ENST00000673903.1:c.1689C>G	ENSP00000501257.1:p.Ser563=
ENST00000302118.5:c.2064C>G MANE Select	ENSP00000303208.5:p.Ser688=
ENST00000490692.1:n.2610C>G
NM_174936.3:c.2064C>G , LRG_275t1:c.2064C>G	NP_777596.2:p.Ser688=
NR_110451.1:n.1671C>G
XM_011541193.1:c.1185C>G	XP_011539495.1:p.Ser395=
NM_174936.4:c.2064C>G MANE Select	NP_777596.2:p.Ser688=
NR_110451.2:n.1671C>G