Canonical Allele Identifier: CA039871

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 297704
• ClinVar RCV Id: RCV000338615 ; RCV000776463 ; RCV001093779
• dbSNP Id: rs201280059
• ExAC: 1:55529132 A / G
• gnomAD v2: 1-55529132-A-G
• gnomAD v3: 1-55063459-A-G
• gnomAD v4: 1-55063459-A-G
• MyVariant Identifiers: chr1:g.55529132A>G (hg19) ; chr1:g.55063459A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063459A>G , CM000663.2:g.55063459A>G	GRCh38
NC_000001.10:g.55529132A>G , CM000663.1:g.55529132A>G	GRCh37
NC_000001.9:g.55301720A>G	NCBI36
NG_009061.1:g.28913A>G , LRG_275:g.28913A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.*294A>G	ENSP00000501161.2:n.*294A>G
ENST00000710286.1:c.2311A>G	ENSP00000518176.1:p.Asn771Asp
ENST00000673903.1:c.1579A>G	ENSP00000501257.1:p.Asn527Asp
ENST00000673913.1:c.804A>G	ENSP00000501161.1:n.804A>G
ENST00000302118.5:c.1954A>G MANE Select	ENSP00000303208.5:p.Asn652Asp
ENST00000490692.1:n.2500A>G
NM_174936.3:c.1954A>G , LRG_275t1:c.1954A>G	NP_777596.2:p.Asn652Asp
NR_110451.1:n.1561A>G
XM_011541193.1:c.1075A>G	XP_011539495.1:p.Asn359Asp
NM_174936.4:c.1954A>G MANE Select	NP_777596.2:p.Asn652Asp
NR_110451.2:n.1561A>G