Gene
TNNT1
troponin T1, slow skeletal type
- HGNC 11948↗(opens in a new tab)
- Ensembl gene ENSG00000105048↗(opens in a new tab)
- NCBI Gene 7138↗(opens in a new tab)
Summary
- Cytogenetic location
- 19q13.42
- Coordinates
- Chromosome 19: 55,132,698–55,149,206 (GRCh38)
- Exons
- 14 exons across 16.5 kb
- Protein
- 278 amino acids
- Also known as
- ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5
- MANE Select transcript
- ENST00000588981.6NM_003283.6
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
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Congenital Myopathies
- Nemaline myopathy
A congenital myopathy defined by rod-shaped structures in muscle fibers, most often caused by NEB or ACTA1 variants.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
How TNNT1 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 1.1 kb of the gene's 16.5 kb; 837 of those bases code for the protein.
How a genome test reads TNNT1
27
positions in TNNT1 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 16.5 kb of TNNT1, introns included, not only the 1.1 kb of exons.
Genes linked to the same conditions
- ACTA1actin alpha 1, skeletal muscleShares 1 condition
- CFL2cofilin 2Shares 1 condition
- KBTBD13kelch repeat and BTB domain containing 13Shares 1 condition
- KLHL40kelch like family member 40Shares 1 condition
- KLHL41kelch like family member 41Shares 1 condition
- LMOD3leiomodin 3Shares 1 condition
- MYPNmyopalladinShares 1 condition
- NEBnebulinShares 1 condition
- SELENONselenoprotein NShares 1 condition
- TPM2tropomyosin 2Shares 1 condition
- TPM3tropomyosin 3Shares 1 condition
Traits linked to TNNT1
The Human Phenotype Ontology lists these as features of the rare conditions TNNT1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Breakdown of skeletal muscle
- Decreased hip abduction
- Difficulty walking up stairs
- Elbow contracture
- Minicore myopathy
- Muscle tissue disease
- Progressive muscle weakness
- Reduced spine movement
Show 20 more traits
- Type 1 muscle fiber predominance
- Wasting of muscles near the body
- Z-band streaming
- Decreased muscle tone in infant
- EMG: myopathic abnormalities
- Gowers sign
- Increased variability in muscle fiber diameter
- Kyphoscoliosis
- Low muscle tone
- Low muscle tone, in neonatal onset
- Muscle degeneration
- Pigeon chest
- Poor head control
- Proximal neurogenic muscle weakness
- Scoliosis
- Shoulder flexion contracture
- Decreased lung function due to weak breathing muscles
- Difficulty running
- Neck flexion weakness
- Prominent swayback
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.). TNNT1 gene: troponin T1, slow skeletal type. Retrieved 16 October 2026, from https://dantelabs.com/genes/tnnt1
Dante Labs. TNNT1 gene: troponin T1, slow skeletal type [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tnnt1
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