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Gene

SERPINA1

serpin family A member 1

Summary

Cytogenetic location
14q32.13
Coordinates
Chromosome 14: 94,376,747–94,388,602 (GRCh38)
Exons
5 exons across 11.9 kb
Protein
418 amino acids
Inheritance
Autosomal recessive
Also known as
AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT
Previous symbols
PI
MANE Select transcript
ENST00000393087.9NM_000295.5
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

  • Alpha-1 Antitrypsin Deficiency

    • Autosomal recessive

      A SERPINA1-related disorder causing reduced circulating alpha-1 antitrypsin, predisposing to emphysema and liver disease.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      IV alpha-1 proteinase inhibitor augmentation therapy (Pi*ZZ with airflow obstruction); smoking cessation; avoidance of lung-toxic exposures; liver transplantation for end-stage liver disease; gene therapy in clinical trials

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 SERPINA1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 14, with a bracket where SERPINA1 sits. SERPINA1 and 20 genes near it on chromosome 14, from 93,882,675 to 94,882,674.Chromosome 1414q32.13p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3394 Mb94.2 Mb94.4 Mb94.6 Mb94.8 MbFAM181A: 93,918,894–93,929,608, forward strandFAM181AASB2: 93,933,783–93,978,831, reverse strandASB2CCDC197: 93,987,166–94,008,863, forward strandCCDC197OTUB2: 94,026,329–94,049,618, forward strandOTUB2DDX24: 94,048,287–94,081,216, reverse strandDDX24IFI27L1: 94,081,271–94,103,846, forward strandIFI27L1IFI27: 94,104,836–94,116,700, forward strandIFI27IFI27L2: 94,125,580–94,130,253, reverse strandIFI27L2PPP4R4: 94,146,128–94,280,236, forward strandPPP4R4SERPINA10: 94,278,767–94,293,320, reverse strandSERPINA10SERPINA6: 94,304,245–94,323,401, reverse strandSERPINA6SERPINA2: 94,364,316–94,366,698, reverse strandSERPINA2SERPINA1: 94,376,747–94,388,602, reverse strandSERPINA1SERPINA11: 94,440,599–94,452,828, reverse strandSERPINA11SERPINA9: 94,462,717–94,481,125, reverse strandSERPINA9SERPINA12: 94,487,274–94,517,844, reverse strandSERPINA12SERPINA4: 94,561,390–94,570,995, forward strandSERPINA4SERPINA5: 94,561,399–94,597,042, forward strandSERPINA5: 94,592,058–94,624,646, forward strandSERPINA3: 94,598,861–94,627,000, forward strandSERPINA3GSC: 94,766,509–94,770,128, reverse strandGSCDiagram of SERPINA1: 5 exons on the reverse strand of chromosome 14Exon 5: 11 known disease-causing sitesExon 4: 1 known disease-causing siteExon 3: 14 known disease-causing sitesExon 2: 23 known disease-causing sitesExon 5: 94,376,747–94,378,640, 1,894 basesExon 4: 94,379,464–94,379,611, 148 basesExon 3: 94,380,871–94,381,141, 271 basesExon 2: 94,382,592–94,383,241, 650 basesExon 1: 94,388,560–94,388,602, 43 bases543215′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 kb of the gene's 11.9 kb; 1,257 of those bases code for the protein.

How a genome test reads SERPINA1

54

positions in SERPINA1 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 11.9 kb of SERPINA1, introns included, not only the 3 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.). SERPINA1 gene: serpin family A member 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/serpina1

Vancouver

Dante Labs. SERPINA1 gene: serpin family A member 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/serpina1

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