Canonical Allele Identifier: CA340480657

Gene: PCSK9

Linked Data

• dbSNP Id: rs1644777508
• MyVariant Identifiers: chr1:g.55529097G>A (hg19) ; chr1:g.55063424G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063424G>A , CM000663.2:g.55063424G>A	GRCh38
NC_000001.10:g.55529097G>A , CM000663.1:g.55529097G>A	GRCh37
NC_000001.9:g.55301685G>A	NCBI36
NG_009061.1:g.28878G>A , LRG_275:g.28878G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*259G>A	ENSP00000501161.2:n.*259G>A
ENST00000710286.1:c.2276G>A	ENSP00000518176.1:p.Gly759Glu
ENST00000673903.1:c.1544G>A	ENSP00000501257.1:p.Gly515Glu
ENST00000673913.1:c.769G>A	ENSP00000501161.1:n.769G>A
ENST00000302118.5:c.1919G>A MANE Select	ENSP00000303208.5:p.Gly640Glu
ENST00000490692.1:n.2465G>A
NM_174936.3:c.1919G>A , LRG_275t1:c.1919G>A	NP_777596.2:p.Gly640Glu
NR_110451.1:n.1526G>A
XM_011541193.1:c.1040G>A	XP_011539495.1:p.Gly347Glu
NM_174936.4:c.1919G>A MANE Select	NP_777596.2:p.Gly640Glu
NR_110451.2:n.1526G>A