Canonical Allele Identifier: CA340480968

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529257A>G (hg19) ; chr1:g.55063584A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063584A>G , CM000663.2:g.55063584A>G	GRCh38
NC_000001.10:g.55529257A>G , CM000663.1:g.55529257A>G	GRCh37
NC_000001.9:g.55301845A>G	NCBI36
NG_009061.1:g.29038A>G , LRG_275:g.29038A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*419A>G	ENSP00000501161.2:n.*419A>G
ENST00000710286.1:c.2436A>G	ENSP00000518176.1:p.Ter812Trp
ENST00000673903.1:c.1704A>G	ENSP00000501257.1:p.Ter568Trp
ENST00000302118.5:c.2079A>G MANE Select	ENSP00000303208.5:p.Ter693Trp
ENST00000490692.1:n.2625A>G
NM_174936.3:c.2079A>G , LRG_275t1:c.2079A>G	NP_777596.2:p.Ter693Trp
NR_110451.1:n.1686A>G
XM_011541193.1:c.1200A>G	XP_011539495.1:p.Ter400Trp
NM_174936.4:c.2079A>G MANE Select	NP_777596.2:p.Ter693Trp
NR_110451.2:n.1686A>G