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Gene

AARS1

alanyl-tRNA synthetase 1

Summary

Cytogenetic location
16q22.1
Coordinates
Chromosome 16: 70,252,298–70,289,506 (GRCh38)
Exons
21 exons across 37.2 kb
Protein
968 amino acids
Also known as
CMT2N, AlaRS
Previous symbols
AARS
MANE Select transcript
ENST00000261772.13NM_001605.3
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

    • Charcot-Marie-Tooth Disease

      • One of 62 genes linked to it

        A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

        • ClinGen rates the link definitive
        • 3 GenCC submitters rate it definitive or strong
        What knowing changes

        Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

    • Epilepsy (Full Panel)

      • Epilepsy

        One of 171 genes linked to it

        A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.

        • ClinGen rates the link definitive
        • 5 GenCC submitters rate it definitive or strong

    • Other Inherited Leukodystrophies

      • Leukodystrophy (other and unspecified types)

        One of 80 genes linked to it

        Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.

        • ClinGen rates the link definitive
        • 4 GenCC submitters rate it definitive or strong
        What knowing changes

        Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.

    How AARS1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 16, with a bracket where AARS1 sits. AARS1 and 15 genes near it on chromosome 16, from 69,770,902 to 70,770,901.Chromosome 1616q22.1p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.369.8 Mb70 Mb70.2 Mb70.4 Mb70.6 MbWWP2: 69,762,281–69,944,553, forward strandWWP2CLEC18A: 69,950,705–69,964,452, forward strandCLEC18APDPR: 70,114,225–70,162,537, forward strandPDPRCLEC18C: 70,173,322–70,187,361, forward strandCLEC18CEXOSC6: 70,246,778–70,251,940, reverse strandEXOSC6AARS1: 70,252,298–70,289,506, reverse strandAARS1DDX19B: 70,289,663–70,335,992, forward strandDDX19B: 70,299,194–70,372,582, forward strandDDX19A: 70,346,861–70,379,987, forward strandDDX19AST3GAL2: 70,375,977–70,439,263, reverse strandST3GAL2FCSK: 70,454,398–70,480,275, forward strandFCSKCOG4: 70,480,567–70,523,582, reverse strandCOG4SF3B3: 70,523,782–70,577,670, forward strandSF3B3IL34: 70,579,868–70,661,556, forward strandIL34MTSS2: 70,661,204–70,686,086, reverse strandMTSS2VAC14: 70,687,436–70,801,178, reverse strandVAC14Diagram of AARS1: 21 exons on the reverse strand of chromosome 16Exon 21: 1 known disease-causing siteExon 20: 1 known disease-causing siteExon 19: 1 known disease-causing siteExon 18: 3 known disease-causing sitesExon 17: 1 known disease-causing siteExon 16: 2 known disease-causing sitesExon 15: 7 known disease-causing sitesExon 14: 11 known disease-causing sitesExon 13: 3 known disease-causing sitesExon 12: 4 known disease-causing sitesExon 11: 1 known disease-causing siteExon 10: 2 known disease-causing sitesExon 9: 3 known disease-causing sitesExon 8: 11 known disease-causing sitesExon 7: 1 known disease-causing siteExon 6: 7 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 3: 5 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 21: 70,252,298–70,252,906, 609 basesExon 20: 70,253,268–70,253,381, 114 basesExon 19: 70,253,714–70,253,800, 87 basesExon 18: 70,253,919–70,254,038, 120 basesExon 17: 70,254,621–70,254,734, 114 basesExon 16: 70,255,728–70,255,836, 109 basesExon 15: 70,258,033–70,258,217, 185 basesExon 14: 70,258,980–70,259,186, 207 basesExon 13: 70,261,044–70,261,157, 114 basesExon 12: 70,262,346–70,262,524, 179 basesExon 11: 70,264,958–70,265,102, 145 basesExon 10: 70,265,538–70,265,662, 125 basesExon 9: 70,267,659–70,267,809, 151 basesExon 8: 70,268,271–70,268,379, 109 basesExon 7: 70,269,618–70,269,763, 146 basesExon 6: 70,270,196–70,270,340, 145 basesExon 5: 70,271,781–70,271,972, 192 basesExon 4: 70,276,486–70,276,631, 146 basesExon 3: 70,276,966–70,277,154, 189 basesExon 2: 70,282,620–70,282,784, 165 basesExon 1: 70,289,421–70,289,506, 86 bases2115′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 3.4 kb of the gene's 37.2 kb; 2,907 of those bases code for the protein.

    How a genome test reads AARS1

    81

    positions in AARS1 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 37.2 kb of AARS1, introns included, not only the 3.4 kb of exons.

    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.). AARS1 gene: alanyl-tRNA synthetase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/aars1

    Vancouver

    Dante Labs. AARS1 gene: alanyl-tRNA synthetase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/aars1

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