Gene
ACTN1
actinin alpha 1
- HGNC 163(opens in a new tab)
- Ensembl gene ENSG00000072110(opens in a new tab)
- NCBI Gene 87(opens in a new tab)
Summary
- Cytogenetic location
- 14q24.1
- Coordinates
- Chromosome 14: 68,874,128–68,979,302 (GRCh38)
- Exons
- 22 exons across 105.2 kb
- Protein
- 914 amino acids
- MANE Select transcript
- ENST00000394419.9NM_001130004.2
- 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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Inherited Thrombocytopenias
- Inherited Thrombocytopenia
A group of conditions causing a lifelong low platelet count, linked to genes such as MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 and MECOM, and inherited in dominant, recessive or X-linked patterns.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
What knowing changes
A genetic diagnosis avoids misdiagnosis as immune thrombocytopenia, with unnecessary steroids or spleen removal, and guides monitoring for related kidney, hearing or blood problems.
How ACTN1 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 3.7 kb of the gene's 105.2 kb; 2,745 of those bases code for the protein.
How a genome test reads ACTN1
26
positions in ACTN1 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 105.2 kb of ACTN1, introns included, not only the 3.7 kb of exons.
Traits linked to ACTN1
The Human Phenotype Ontology lists these as features of the rare conditions ACTN1 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.). ACTN1 gene: actinin alpha 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/actn1
Dante Labs. ACTN1 gene: actinin alpha 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/actn1
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