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Gene

ALPL

alkaline phosphatase, biomineralization associated

Summary

Cytogenetic location
1p36.12
Coordinates
Chromosome 1: 21,509,423–21,578,410 (GRCh38)
Exons
12 exons across 69 kb
Protein
524 amino acids
Also known as
TNSALP, TNALP, TNAP
Previous symbols
HOPS
MANE Select transcript
ENST00000374840.8NM_000478.6
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 report relevant to this gene

  • Hypophosphatasia

    • Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia).

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

How ALPL is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where ALPL sits. ALPL and 11 genes near it on chromosome 1, from 21,043,917 to 22,043,916.Chromosome 11p36.12p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4421.2 Mb21.4 Mb21.6 Mb21.8 Mb22 MbEIF4G3: 20,805,989–21,177,285, reverse strandEIF4G3ECE1: 21,217,247–21,345,912, reverse strandECE1NBPF3: 21,439,853–21,485,005, forward strandNBPF3ALPL: 21,509,423–21,578,410, forward strandALPL: 21,547,404–21,554,002, forward strandRAP1GAP: 21,596,215–21,669,846, reverse strandRAP1GAPUSP48: 21,675,521–21,783,618, reverse strandUSP48LDLRAD2: 21,812,265–21,825,225, forward strandLDLRAD2HSPG2: 21,820,593–21,937,318, reverse strandHSPG2CELA3B: 21,977,022–21,998,642, forward strandCELA3BCELA3A: 22,001,657–22,012,542, forward strandCELA3A: 22,025,142–22,092,943, forward strandDiagram of ALPL: 12 exons on the forward strand of chromosome 1Exon 2: 11 known disease-causing sitesExon 3: 27 known disease-causing sitesExon 4: 31 known disease-causing sitesExon 5: 57 known disease-causing sitesExon 6: 47 known disease-causing sitesExon 7: 33 known disease-causing sitesExon 8: 9 known disease-causing sitesExon 9: 37 known disease-causing sitesExon 10: 53 known disease-causing sitesExon 11: 28 known disease-causing sitesExon 12: 57 known disease-causing sitesExon 1: 21,509,423–21,509,517, 95 basesExon 2: 21,553,978–21,554,142, 165 basesExon 3: 21,560,626–21,560,745, 120 basesExon 4: 21,561,097–21,561,212, 116 basesExon 5: 21,563,110–21,563,284, 175 basesExon 6: 21,564,041–21,564,216, 176 basesExon 7: 21,568,104–21,568,247, 144 basesExon 8: 21,570,305–21,570,374, 70 basesExon 9: 21,573,665–21,573,799, 135 basesExon 10: 21,575,733–21,575,924, 192 basesExon 11: 21,576,522–21,576,641, 120 basesExon 12: 21,577,383–21,578,410, 1,028 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 2.5 kb of the gene's 69 kb; 1,575 of those bases code for the protein.

How a genome test reads ALPL

412

positions in ALPL 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 69 kb of ALPL, introns included, not only the 2.5 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.). ALPL gene: alkaline phosphatase, biomineralization associated. Retrieved 16 October 2026, from https://dantelabs.com/genes/alpl

Vancouver

Dante Labs. ALPL gene: alkaline phosphatase, biomineralization associated [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/alpl

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