Canonical Allele Identifier: CA340480890

Gene: PCSK9

Linked Data

• dbSNP Id: rs1570311586
• MyVariant Identifiers: chr1:g.55529219A>G (hg19) ; chr1:g.55063546A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063546A>G , CM000663.2:g.55063546A>G	GRCh38
NC_000001.10:g.55529219A>G , CM000663.1:g.55529219A>G	GRCh37
NC_000001.9:g.55301807A>G	NCBI36
NG_009061.1:g.29000A>G , LRG_275:g.29000A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*381A>G	ENSP00000501161.2:n.*381A>G
ENST00000710286.1:c.2398A>G	ENSP00000518176.1:p.Ser800Gly
ENST00000673903.1:c.1666A>G	ENSP00000501257.1:p.Ser556Gly
ENST00000302118.5:c.2041A>G MANE Select	ENSP00000303208.5:p.Ser681Gly
ENST00000490692.1:n.2587A>G
NM_174936.3:c.2041A>G , LRG_275t1:c.2041A>G	NP_777596.2:p.Ser681Gly
NR_110451.1:n.1648A>G
XM_011541193.1:c.1162A>G	XP_011539495.1:p.Ser388Gly
NM_174936.4:c.2041A>G MANE Select	NP_777596.2:p.Ser681Gly
NR_110451.2:n.1648A>G