Canonical Allele Identifier: CA023140

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 36670
• ClinVar RCV Id: RCV001811218 ; RCV002415436 ; RCV003148635
• dbSNP Id: rs505151
• ExAC: 1:55529187 G / A
• gnomAD v2: 1-55529187-G-A
• gnomAD v3: 1-55063514-G-A
• gnomAD v4: 1-55063514-G-A
• MyVariant Identifiers: chr1:g.55529187G>A (hg19) ; chr1:g.55063514G>A (hg38)
• PubMed: PMID:15358785 ; PMID:15893176

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063514G>A , CM000663.2:g.55063514G>A	GRCh38
NC_000001.10:g.55529187G>A , CM000663.1:g.55529187G>A	GRCh37
NC_000001.9:g.55301775G>A	NCBI36
NG_009061.1:g.28968G>A , LRG_275:g.28968G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.*349G>A	ENSP00000501161.2:n.*349G>A
ENST00000710286.1:c.2366G>A	ENSP00000518176.1:p.Gly789Glu
ENST00000673903.1:c.1634G>A	ENSP00000501257.1:p.Gly545Glu
ENST00000673913.1:c.859G>A	ENSP00000501161.1:n.859G>A
ENST00000302118.5:c.2009G>A MANE Select	ENSP00000303208.5:p.Gly670Glu
ENST00000490692.1:n.2555G>A
NM_174936.3:c.2009G>A , LRG_275t1:c.2009G>A	NP_777596.2:p.Gly670Glu
NR_110451.1:n.1616G>A
XM_011541193.1:c.1130G>A	XP_011539495.1:p.Gly377Glu
NM_174936.4:c.2009G>A MANE Select	NP_777596.2:p.Gly670Glu
NR_110451.2:n.1616G>A