View 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_000478.3
Associated with diseases Adult hypophosphatasia, Childhood hypophosphatasia, hypophosphatasia, infantile
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 5
Unique public DNA variants reported 3
Individuals with public variants 5
Hidden variants 0
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated October 16, 2016
Version ALPL:161016

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL Orphanet
HGNC 438
Entrez Gene 249
PubMed articles ALPL
OMIM - Gene 171760
OMIM - Diseases Adult hypophosphatasia
Childhood hypophosphatasia
hypophosphatasia, infantile
HGMD ALPL
GeneCards ALPL
GeneTests ALPL


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000097 1 alkaline phosphatase, liver/bone/kidney, transcript variant 1 (expired, new version available) NM_000478.3 NP_000469.3 5


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2011-2016. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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.