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 Childhood hypophosphatasia, hypophosphatasia, adult, hypophosphatasia, infantile
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 32
Unique public DNA variants reported 14
Individuals with public variants 9
Hidden variants 14
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 December 28, 2017
Version ALPL:171228

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 Orphanet
HGNC 438
Entrez Gene 249
PubMed articles ALPL
OMIM - Gene 171760
OMIM - Diseases Childhood hypophosphatasia
hypophosphatasia, adult
hypophosphatasia, infantile
GeneCards ALPL
GeneTests ALPL

Active transcripts




NCBI ID     

NCBI Protein ID     

00025251 1 transcript variant 1 NM_000478.4 NP_000469.3 32

Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.