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Gene

PCSK9

proprotein convertase subtilisin/kexin type 9

Summary

Cytogenetic location
1p32.3
Coordinates
Chromosome 1: 55,039,548–55,064,852 (GRCh38)
Exons
12 exons across 25.3 kb
Protein
692 amino acids
Also known as
NARC-1, FH3
Previous symbols
HCHOLA3
MANE Select transcript
ENST00000302118.5NM_174936.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Familial Hypercholesterolemia

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list
      What knowing changes

      Statins, ezetimibe, PCSK9 inhibitors, bempedoic acid, inclisiran

  • Hyperlipidemia

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list

How PCSK9 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome 1, with a bracket where PCSK9 sits. PCSK9 and 12 genes near it on chromosome 1, from 54,552,200 to 55,552,199.Chromosome 11p32.3p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4454.6 Mb54.8 Mb55 Mb55.2 Mb55.4 MbACOT11: 54,542,257–54,639,215, forward strandACOT11FAM151A: 54,609,177–54,623,556, reverse strandFAM151AMROH7: 54,641,754–54,710,266, forward strandMROH7MROH7-TTC4: 54,641,786–54,742,308, forward strandMROH7-TTC4TTC4: 54,715,818–54,743,465, forward strandTTC4PARS2: 54,756,591–54,764,549, reverse strandPARS2TTC22: 54,779,712–54,801,508, reverse strandTTC22CIMAP2: 54,806,063–54,842,542, forward strandCIMAP2DHCR24: 54,832,262–54,887,224, reverse strandDHCR24TMEM61: 54,886,833–54,992,296, forward strandTMEM61BSND: 54,998,906–55,017,172, forward strandBSNDPCSK9: 55,039,548–55,064,852, forward strandPCSK9USP24: 55,066,222–55,215,753, reverse strandUSP24Diagram of PCSK9: 12 exons on the forward strand of chromosome 1Exon 1: 4 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 12: 1 known disease-causing siteExon 1: 55,039,548–55,040,044, 497 bases. 1 variant with a page in exon 1. List themExon 2: 55,043,843–55,044,034, 192 bases. 3 variants with a page in exon 2. List themExon 3: 55,046,523–55,046,646, 124 basesExon 4: 55,052,278–55,052,411, 134 bases. 1 variant with a page in exon 4. List themExon 5: 55,052,650–55,052,791, 142 basesExon 6: 55,055,993–55,056,189, 197 basesExon 7: 55,057,331–55,057,514, 184 bases. 1 variant with a page in exon 7. List themExon 8: 55,058,036–55,058,209, 174 basesExon 9: 55,058,499–55,058,647, 149 basesExon 10: 55,059,486–55,059,663, 178 basesExon 11: 55,061,375–55,061,556, 182 basesExon 12: 55,063,369–55,064,852, 1,484 bases1246810125′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.6 kb of the gene's 25.3 kb; 2,079 of those bases code for the protein.

How a genome test reads PCSK9

18

positions in PCSK9 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 25.3 kb of PCSK9, introns included, not only the 3.6 kb of exons.

Variants with a page (6)

The PCSK9 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
D129Gc.386A>GExon 255,044,021Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
D374Yc.1120G>TExon 755,057,454Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
E32Kc.94G>AExon 155,039,931Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
L108Rc.323T>GExon 255,043,958Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
R215Hc.644G>AExon 455,052,398Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
S127Rc.381T>AExon 255,044,016Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). PCSK9 gene: proprotein convertase subtilisin/kexin type 9. Retrieved 16 October 2026, from https://dantelabs.com/genes/pcsk9

Vancouver

Dante Labs. PCSK9 gene: proprotein convertase subtilisin/kexin type 9 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pcsk9

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