ALPL alkaline phosphatase, biomineralization associated

Information
Symbol
ALPL
Type
protein-coding
Description
alkaline phosphatase, biomineralization associated
Entrez Gene ID
249
Genome
hg19
Position
chr1:21,835,916-21,904,903
Genome
hg38
Position
chr1:21,509,423-21,578,410
MIM
171760 OMIM
HGNC
HGNC:438 HGNC
Ensembl
ENSG00000162551 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 54 394
Likely pathogenic 2 530
Benign 0 166
Likely benign 0 870
Conflicting classifications of pathogenicity 0 162
Uncertain significance 2 400
Ranking
ClinVar
0
0
544
1,516
44
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM AP-TNAP
SYNONYM APTNAP
SYNONYM HOPS
SYNONYM HPPA
SYNONYM HPPC
SYNONYM HPPI
SYNONYM HPPO
SYNONYM TNALP
SYNONYM TNAP
SYNONYM TNS-ALP
SYNONYM TNSALP
MIM 171760 OMIM
HGNC HGNC:438 HGNC
Ensembl ENSG00000162551 Ensembl
AllianceGenome HGNC:438
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000374832.5 hg38 chr1 21,551,279 21,578,012 26,734
ENST00000540617.5 hg38 chr1 21,509,428 21,578,175 68,748
ENST00000374840.8 hg38 chr1 21,509,423 21,578,410 68,988
ENST00000539907.5 hg38 chr1 21,509,426 21,578,399 68,974
ENST00000374840.8 hg19 chr1 21,835,916 21,904,903 68,988
ENST00000539907.5 hg19 chr1 21,835,919 21,904,892 68,974
ENST00000540617.5 hg19 chr1 21,835,921 21,904,668 68,748
ENST00000374832.5 hg19 chr1 21,877,772 21,904,505 26,734
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