Canonical Allele Identifier: CA340479959

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059585-A-G
• MyVariant Identifiers: chr1:g.55525258A>G (hg19) ; chr1:g.55059585A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059585A>G , CM000663.2:g.55059585A>G	GRCh38
NC_000001.10:g.55525258A>G , CM000663.1:g.55525258A>G	GRCh37
NC_000001.9:g.55297846A>G	NCBI36
NG_009061.1:g.25039A>G , LRG_275:g.25039A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1603A>G	ENSP00000501161.2:p.Ser535Gly
ENST00000710286.1:c.1960A>G	ENSP00000518176.1:p.Ser654Gly
ENST00000673903.1:c.1228A>G	ENSP00000501257.1:p.Ser410Gly
ENST00000673913.1:c.343A>G	ENSP00000501161.1:p.Ser115Gly
ENST00000302118.5:c.1603A>G MANE Select	ENSP00000303208.5:p.Ser535Gly
ENST00000490692.1:n.2227+938A>G
NM_174936.3:c.1603A>G , LRG_275t1:c.1603A>G	NP_777596.2:p.Ser535Gly
NR_110451.1:n.1210A>G
XM_011541193.1:c.724A>G	XP_011539495.1:p.Ser242Gly
NM_174936.4:c.1603A>G MANE Select	NP_777596.2:p.Ser535Gly
NR_110451.2:n.1210A>G