Gene
APOL1
apolipoprotein L1
- HGNC 618↗(opens in a new tab)
- Ensembl gene ENSG00000100342↗(opens in a new tab)
- NCBI Gene 8542↗(opens in a new tab)
Summary
- Cytogenetic location
- 22q12.3
- Coordinates
- Chromosome 22: 36,253,133–36,267,525 (GRCh38)
- Exons
- 6 exons across 14.4 kb
- Protein
- 398 amino acids
- Inheritance
- Autosomal recessive
- Previous symbols
- APOL
- MANE Select transcript
- ENST00000397278.8NM_003661.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated report relevant to this gene
Focal Segmental Glomerulosclerosis
- FSGS Susceptibility (APOL1)Autosomal recessive
Two APOL1 risk variants (G1 or G2) markedly increase the risk of FSGS and other non-diabetic kidney disease, mainly in people with recent African ancestry; most people with this genotype never develop kidney disease.
- ClinGen rates the link definitive
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Knowing can prompt blood pressure and kidney function monitoring and informs evaluation of living kidney donors.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How APOL1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 2.8 kb of the gene's 14.4 kb; 1,197 of those bases code for the protein.
How a genome test reads APOL1
3
positions in APOL1 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 14.4 kb of APOL1, introns included, not only the 2.8 kb of exons.
Traits linked to APOL1
The Human Phenotype Ontology lists these as features of the rare conditions APOL1 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). APOL1 gene: apolipoprotein L1. Retrieved 16 October 2026, from https://dantelabs.com/genes/apol1
Dante Labs. APOL1 gene: apolipoprotein L1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/apol1
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