The ALPL gene homepage

General information
Gene symbol ALPL
Gene name alkaline phosphatase, liver/bone/kidney
Chromosome 1
Chromosomal band p36.12
Imprinted Unknown
Genomic reference NG_008940.1
Transcript reference NM_000478.4
Exon/intron information NM_000478.4 exon/intron table
Associated with diseases HOPS, HPP, HPPA, hypophosphatasia, childh.
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 1199
Unique public DNA variants reported 501
Individuals with public variants 696
Hidden variants 2
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated May 09, 2022
Version ALPL:220509

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000478.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database (all variants copied Dec.2020)
HGNC 438
Entrez Gene 249
PubMed articles ALPL
OMIM - Gene 171760
OMIM - Diseases HOPS (hypophosphatasia, infantile)
HPPA (hypophosphatasia, adult (odontohypophosphatasia))
hypophosphatasia, childh. (hypophosphatasia, childhood)
GeneCards ALPL
GeneTests ALPL
Orphanet ALPL

Active transcripts




NCBI ID     

NCBI Protein ID     

00025251 1 transcript variant 1 NM_000478.4 NP_000469.3 1199

Copyright & disclaimer
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