ALPL (alkaline phosphatase, biomineralization associated) - Rat Genome Database

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Gene: ALPL (alkaline phosphatase, biomineralization associated) Homo sapiens
Analyze
Symbol: ALPL
Name: alkaline phosphatase, biomineralization associated
RGD ID: 1346147
HGNC Page HGNC
Description: Enables pyrophosphatase activity. Involved in response to vitamin D. Located in extracellular exosome and membrane. Implicated in adult hypophosphatasia; childhood hypophosphatasia; hypophosphatasia; and infantile hypophosphatasia. Biomarker of arteriosclerosis; familial combined hyperlipidemia; fatty liver disease; and in situ carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: alkaline phosphatase liver/bone/kidney isozyme; alkaline phosphatase, liver/bone/kidney; alkaline phosphatase, tissue-nonspecific isozyme; alkaline phosphomonoesterase; AP-TNAP; APTNAP; FLJ40094; FLJ93059; glycerophosphatase; HOPS; HPPA; HPPC; HPPI; HPPO; liver/bone/kidney-type alkaline phosphatase; MGC161443; MGC167935; tissue non-specific alkaline phosphatase; tissue-nonspecific ALP; TNALP; TNAP; TNSALP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl121,509,397 - 21,578,410 (+)EnsemblGRCh38hg38GRCh38
GRCh38121,508,984 - 21,578,412 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37121,835,477 - 21,904,903 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36121,708,445 - 21,777,492 (+)NCBINCBI36hg18NCBI36
Build 34121,581,174 - 21,650,208NCBI
Celera120,158,568 - 20,227,624 (+)NCBI
Cytogenetic Map1p36.12NCBI
HuRef120,079,620 - 20,148,672 (+)NCBIHuRef
CHM1_1121,947,891 - 22,016,920 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-naringenin  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,3-dinitrobenzene  (ISO)
1-(5-isoquinolinesulfonyl)-2-methylpiperazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
1-octadec-9-enoylglycero-3-phosphate  (EXP)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-acetamidofluorene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (EXP)
2-butoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-(2-methylpiperazine-1-sulfonyl)isoquinoline  (ISO)
6-propyl-2-thiouracil  (ISO)
6alpha-methylprednisolone  (ISO)
acephate  (EXP)
acetamide  (ISO)
acrylamide  (ISO)
Actein  (ISO)
aflatoxin B1  (EXP)
alachlor  (EXP)
aldehydo-D-glucosamine  (EXP)
aldosterone  (EXP)
alendronic acid  (ISO)
all-trans-retinoic acid  (EXP,ISO)
allopurinol  (ISO)
alloxanthine  (ISO)
aluminium oxide  (EXP)
ammonium chloride  (ISO)
apocynin  (ISO)
Aroclor 1254  (ISO)
arsenite(3-)  (ISO)
arsenous acid  (ISO)
ATP  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
beta-D-glucosamine  (EXP)
beta-naphthoflavone  (ISO)
bexarotene  (ISO)
bezafibrate  (EXP,ISO)
bifenthrin  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
Butylparaben  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
calcidiol  (EXP)
calcitriol  (EXP)
calcium dichloride  (EXP)
calcium dihydroxide  (EXP)
carbon nanotube  (ISO)
carbonyl sulfide  (ISO)
chitosan  (EXP)
chloramphenicol  (EXP)
chlorpyrifos  (ISO)
chromium atom  (ISO)
chromium(3+) trichloride  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
corticosterone  (ISO)
coumestrol  (EXP)
cyclosporin A  (EXP)
cypermethrin  (EXP,ISO)
daidzein  (EXP)
DDE  (EXP)
DDT  (EXP)
decabromodiphenyl ether  (ISO)
desferrioxamine B  (EXP,ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diallyl trisulfide  (EXP)
diarsenic trioxide  (ISO)
dibenz[a,h]anthracene  (ISO)
dichloroacetic acid  (ISO)
diethylstilbestrol  (ISO)
dimethoate  (EXP)
dioxygen  (EXP,ISO)
diuron  (ISO)
dorsomorphin  (ISO)
doxorubicin  (ISO)
enalapril  (ISO)
endosulfan  (ISO)
ethanol  (EXP,ISO)
eugenol  (EXP)
Falecalcitriol  (EXP)
fenofibrate  (EXP)
fenvalerate  (EXP,ISO)
fipronil  (EXP)
folic acid  (EXP)
formaldehyde  (EXP)
fulvestrant  (EXP)
furan  (ISO)
gallocatechin  (ISO)
gamma-aminobutyric acid  (ISO)
gamma-hexachlorocyclohexane  (ISO)
genistein  (EXP,ISO)
glycerol 2-phosphate  (EXP,ISO)
glycyrrhetinate  (ISO)
glycyrrhetinic acid  (ISO)
GW 4064  (ISO)
hexadecanoic acid  (ISO)
hexane  (ISO)
hydrogen peroxide  (EXP,ISO)
hydroxychloroquine  (EXP)
icariside II  (ISO)
indinavir  (ISO)
indometacin  (EXP)
isoproturon  (ISO)
ketoconazole  (EXP)
L-ascorbic acid  (EXP,ISO)
lead diacetate  (ISO)
lead(0)  (ISO)
lead(2+)  (ISO)
levamisole  (EXP,ISO)
levonorgestrel  (EXP)
lithocholic acid  (EXP)
melatonin  (EXP)
menadione  (ISO)
menaquinone  (ISO)
menaquinone-4  (ISO)
methapyrilene  (EXP)
methimazole  (ISO)
methoxychlor  (EXP,ISO)
methylparaben  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
myricitrin  (EXP,ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
N-nitrosodiethylamine  (ISO)
N-tosyl-L-phenylalanyl chloromethyl ketone  (EXP,ISO)
naphthalene  (ISO)
nebivolol  (ISO)
niclosamide  (ISO)
Nonylphenol  (EXP)
orphenadrine  (ISO)
pamidronate  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
paricalcitol  (EXP)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
permethrin  (EXP)
phenethyl caffeate  (ISO)
phenobarbital  (ISO)
phenol  (EXP)
phosphorus atom  (EXP)
phosphorus(.)  (EXP)
phytoestrogen  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
procaine  (EXP)
progesterone  (EXP)
pyridoxal 5'-phosphate  (ISO)
pyrogallol  (ISO)
quercetin  (ISO)
resveratrol  (ISO)
Salidroside  (ISO)
SB 203580  (ISO)
SB 431542  (EXP)
silicon dioxide  (ISO)
simvastatin  (EXP,ISO)
sodium arsenite  (EXP)
sodium cholate  (ISO)
sodium fluoride  (EXP,ISO)
sodium hypochlorite  (EXP)
sophoraflavanone B  (EXP)
spironolactone  (EXP)
sulindac  (EXP)
tamoxifen  (ISO)
terbutylazine  (EXP)
Tesaglitazar  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thioacetamide  (ISO)
titanium dioxide  (EXP,ISO)
tributylstannane  (ISO)
triflumizole  (ISO)
trimellitic anhydride  (ISO)
triphenylstannane  (ISO)
triptonide  (ISO)
tungsten  (ISO)
tunicamycin  (EXP,ISO)
uranium atom  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vitamin E  (ISO)
warfarin  (ISO)
xanthohumol  (EXP)
zearalenone  (EXP)
zinc atom  (ISO)
zinc dichloride  (ISO)
zinc(0)  (ISO)
zineb  (EXP)
zoledronic acid  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal foot morphology  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the voice  (IAGP)
Anemia  (IAGP)
Anorexia  (IAGP)
Apnea  (IAGP)
Arthropathy  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blue sclerae  (IAGP)
Bowing of the legs  (IAGP)
Carious teeth  (IAGP)
Chondrocalcinosis  (IAGP)
Constipation  (IAGP)
Craniosynostosis  (IAGP)
Death in infancy  (IAGP)
Decreased calvarial ossification  (IAGP)
Disproportionate short-limb short stature  (IAGP)
Dolichocephaly  (IAGP)
Elevated plasma pyrophosphate  (IAGP)
Elevated urine pyrophosphate  (IAGP)
Failure to thrive  (IAGP)
Fever  (IAGP)
Frontal bossing  (IAGP)
Generalized hypotonia  (IAGP)
Hypercalcemia  (IAGP)
Hypercalciuria  (IAGP)
Hypotonia  (IAGP)
Increased susceptibility to fractures  (IAGP)
Intracranial hemorrhage  (IAGP)
Irritability  (IAGP)
Low alkaline phosphatase  (IAGP)
Metaphyseal cupping  (IAGP)
Microcephaly  (IAGP)
Micromelia  (IAGP)
Myopathy  (IAGP)
Nephrocalcinosis  (IAGP)
Osteomalacia  (IAGP)
Pathologic fracture  (IAGP)
Phosphoethanolaminuria  (IAGP)
Platyspondyly  (IAGP)
Polyhydramnios  (IAGP)
Premature loss of permanent teeth  (IAGP)
Premature loss of primary teeth  (IAGP)
Proptosis  (IAGP)
Rachitic rosary  (IAGP)
Recurrent fractures  (IAGP)
Recurrent respiratory infections  (IAGP)
Rickets  (IAGP)
Seizure  (IAGP)
Short lower limbs  (IAGP)
Short ribs  (IAGP)
Short stature  (IAGP)
Skeletal dysplasia  (IAGP)
Skin dimple over apex of long bone angulation  (IAGP)
Stillbirth  (IAGP)
Unossified vertebral bodies  (IAGP)
Vertebral clefting  (IAGP)
Vomiting  (IAGP)
Waddling gait  (IAGP)
Widely patent fontanelles and sutures  (IAGP)
References

Additional References at PubMed
PMID:1321014   PMID:1409720   PMID:1458595   PMID:2220817   PMID:2346496   PMID:2928120   PMID:3165380   PMID:3174660   PMID:3410475   PMID:3446011   PMID:3532105   PMID:3954357  
PMID:6933471   PMID:7509208   PMID:7833929   PMID:7876424   PMID:8954059   PMID:9020858   PMID:9192863   PMID:9747027   PMID:9781036   PMID:9814472   PMID:9823315   PMID:9844100  
PMID:10094560   PMID:10332035   PMID:10508980   PMID:10679946   PMID:10690885   PMID:10737975   PMID:10834525   PMID:10865224   PMID:11073119   PMID:11438998   PMID:11479741   PMID:11528114  
PMID:11745997   PMID:11760847   PMID:11810413   PMID:11834095   PMID:11855933   PMID:11999978   PMID:12357339   PMID:12372831   PMID:12397600   PMID:12412800   PMID:12477932   PMID:12638946  
PMID:12788869   PMID:12815606   PMID:12920074   PMID:14517339   PMID:14702039   PMID:14756545   PMID:15135428   PMID:15146197   PMID:15230135   PMID:15248185   PMID:15476587   PMID:15489334  
PMID:15562030   PMID:15629439   PMID:15660230   PMID:15694177   PMID:15824850   PMID:16014383   PMID:16210410   PMID:16344560   PMID:16583221   PMID:16602701   PMID:16681433   PMID:16893177  
PMID:16932897   PMID:17023519   PMID:17043047   PMID:17195227   PMID:17229666   PMID:17242729   PMID:17253930   PMID:17395561   PMID:17516619   PMID:17563703   PMID:17719863   PMID:17922851  
PMID:18029348   PMID:18037100   PMID:18158785   PMID:18160010   PMID:18328985   PMID:18422967   PMID:18455459   PMID:18469019   PMID:18496130   PMID:18500657   PMID:18523927   PMID:18572267  
PMID:18579124   PMID:18605934   PMID:18665784   PMID:18724009   PMID:18769922   PMID:18940312   PMID:19012630   PMID:19056867   PMID:19084045   PMID:19303062   PMID:19335222   PMID:19419944  
PMID:19423565   PMID:19453261   PMID:19500388   PMID:19631305   PMID:19641839   PMID:19729429   PMID:19744961   PMID:19751416   PMID:19751417   PMID:19856264   PMID:19860546   PMID:19874193  
PMID:19884277   PMID:19888898   PMID:19931660   PMID:20048161   PMID:20139978   PMID:20175736   PMID:20231843   PMID:20301329   PMID:20345388   PMID:20355242   PMID:20379614   PMID:20558539  
PMID:20634292   PMID:20809279   PMID:20828673   PMID:20888271   PMID:20924064   PMID:20977932   PMID:21168482   PMID:21179104   PMID:21191615   PMID:21289095   PMID:21402707   PMID:21419245  
PMID:21558934   PMID:21713451   PMID:21873635   PMID:21886157   PMID:21956185   PMID:22001757   PMID:22024719   PMID:22154904   PMID:22167380   PMID:22211102   PMID:22228761   PMID:22268729  
PMID:22300680   PMID:22395920   PMID:22569225   PMID:22656046   PMID:22672431   PMID:22702738   PMID:22703652   PMID:22994584   PMID:23039266   PMID:23124780   PMID:23149655   PMID:23183786  
PMID:23223140   PMID:23328739   PMID:23376485   PMID:23419404   PMID:23427088   PMID:23432910   PMID:23509830   PMID:23533145   PMID:23612078   PMID:23648065   PMID:23791648   PMID:23897810  
PMID:24022022   PMID:24094242   PMID:24151614   PMID:24276437   PMID:24441913   PMID:24533943   PMID:24569605   PMID:24804200   PMID:24816252   PMID:24909115   PMID:24929891   PMID:25025693  
PMID:25033287   PMID:25147783   PMID:25241253   PMID:25246707   PMID:25336462   PMID:25342482   PMID:25504209   PMID:25536665   PMID:25603770   PMID:25636587   PMID:25769592   PMID:25775211  
PMID:25853240   PMID:26167880   PMID:26210919   PMID:26219720   PMID:26389140   PMID:26645431   PMID:26783040   PMID:26797772   PMID:26975660   PMID:27323113   PMID:27467278   PMID:27680481  
PMID:27922893   PMID:27965423   PMID:28000043   PMID:28005267   PMID:28006818   PMID:28122543   PMID:28127875   PMID:28209522   PMID:28319085   PMID:28401263   PMID:28506345   PMID:28514442  
PMID:28570402   PMID:28664247   PMID:29236161   PMID:29489416   PMID:29659871   PMID:29724887   PMID:29786747   PMID:29846771   PMID:30719581   PMID:30737378   PMID:30833792   PMID:30888211  
PMID:30979497   PMID:30995879   PMID:31146036   PMID:31366234   PMID:31378661   PMID:31399639   PMID:31600233   PMID:31707452   PMID:31734146   PMID:31753913   PMID:31754202   PMID:31760938  
PMID:31857675   PMID:31969558   PMID:32066479   PMID:32141789   PMID:32163666   PMID:32360152   PMID:32772198   PMID:32788631   PMID:33191482   PMID:33302551   PMID:33477631   PMID:33549410  
PMID:33814268  


Genomics

Comparative Map Data
ALPL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl121,509,397 - 21,578,410 (+)EnsemblGRCh38hg38GRCh38
GRCh38121,508,984 - 21,578,412 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37121,835,477 - 21,904,903 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36121,708,445 - 21,777,492 (+)NCBINCBI36hg18NCBI36
Build 34121,581,174 - 21,650,208NCBI
Celera120,158,568 - 20,227,624 (+)NCBI
Cytogenetic Map1p36.12NCBI
HuRef120,079,620 - 20,148,672 (+)NCBIHuRef
CHM1_1121,947,891 - 22,016,920 (+)NCBICHM1_1
Alpl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394137,469,042 - 137,523,695 (-)NCBIGRCm39mm39
GRCm39 Ensembl4137,469,044 - 137,523,695 (-)Ensembl
GRCm384137,741,731 - 137,796,384 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4137,741,733 - 137,796,384 (-)EnsemblGRCm38mm10GRCm38
MGSCv374137,297,647 - 137,352,292 (-)NCBIGRCm37mm9NCBIm37
MGSCv364137,013,815 - 137,068,399 (-)NCBImm8
Celera4135,949,159 - 136,007,413 (-)NCBICelera
Cytogenetic Map4D3NCBI
cM Map470.02NCBI
Alpl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25149,951,397 - 150,006,424 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl5149,951,409 - 150,006,446 (-)Ensembl
Rnor_6.05156,086,496 - 156,141,513 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5156,086,497 - 156,141,537 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05159,841,916 - 159,897,391 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45156,501,739 - 156,558,727 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15156,511,778 - 156,568,766 (-)NCBI
Celera5148,347,371 - 148,402,292 (-)NCBICelera
RH 3.4 Map51009.6RGD
Cytogenetic Map5q36NCBI
Alpl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554521,820,174 - 1,874,226 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554521,820,212 - 1,873,877 (+)NCBIChiLan1.0ChiLan1.0
ALPL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1121,667,732 - 21,736,688 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl121,667,732 - 21,736,688 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0120,702,509 - 20,772,301 (+)NCBIMhudiblu_PPA_v0panPan3
ALPL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1277,559,791 - 77,614,102 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl277,559,791 - 77,614,820 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha274,073,609 - 74,088,831 (-)NCBI
ROS_Cfam_1.0278,128,381 - 78,182,495 (-)NCBI
UMICH_Zoey_3.1274,947,430 - 74,962,684 (-)NCBI
UNSW_CanFamBas_1.0275,958,433 - 75,973,647 (-)NCBI
UU_Cfam_GSD_1.0276,961,389 - 76,976,632 (-)NCBI
Alpl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505841,362,174 - 41,405,120 (+)NCBI
SpeTri2.0NW_0049364747,209,196 - 7,229,899 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ALPL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl679,588,659 - 79,649,648 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1679,589,695 - 79,649,646 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
ALPL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120111,055,583 - 111,124,143 (-)NCBI
ChlSab1.1 Ensembl20111,055,558 - 111,081,850 (-)Ensembl
Vero_WHO_p1.0NW_0236660335,163,162 - 5,231,388 (+)NCBI
Alpl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247646,393,741 - 6,447,739 (+)NCBI

Position Markers
SHGC-74342  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37121,902,214 - 21,902,345UniSTSGRCh37
Build 36121,774,801 - 21,774,932RGDNCBI36
Celera120,224,949 - 20,225,080RGD
Cytogenetic Map1p36.12UniSTS
HuRef120,145,996 - 20,146,127UniSTS
GeneMap99-GB4 RH Map176.39UniSTS
RH93776  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37121,904,644 - 21,904,825UniSTSGRCh37
Build 36121,777,231 - 21,777,412RGDNCBI36
Celera120,227,363 - 20,227,544RGD
Cytogenetic Map1p36.12UniSTS
HuRef120,148,411 - 20,148,592UniSTS
GeneMap99-GB4 RH Map176.37UniSTS
GDB:178682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37121,900,272 - 21,902,250UniSTSGRCh37
Build 36121,772,859 - 21,774,837RGDNCBI36
Celera120,223,007 - 20,224,985RGD
Cytogenetic Map1p36.12UniSTS
HuRef120,144,052 - 20,146,032UniSTS
GDB:549217  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37121,890,534 - 21,890,701UniSTSGRCh37
Build 36121,763,121 - 21,763,288RGDNCBI36
Celera120,213,269 - 20,213,436RGD
Cytogenetic Map1p36.12UniSTS
HuRef120,134,312 - 20,134,479UniSTS
SHGC-74343  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37121,886,851 - 21,887,067UniSTSGRCh37
Build 36121,759,438 - 21,759,654RGDNCBI36
Celera120,209,587 - 20,209,803RGD
Cytogenetic Map1p36.12UniSTS
HuRef120,130,631 - 20,130,847UniSTS
GeneMap99-GB4 RH Map176.39UniSTS
AL009634  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37121,849,947 - 21,850,118UniSTSGRCh37
Build 36121,722,534 - 21,722,705RGDNCBI36
Celera120,172,657 - 20,172,828RGD
Cytogenetic Map1p36.12UniSTS
HuRef120,093,619 - 20,093,790UniSTS
D15S1390  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map7p13UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR204hsa-miR-204-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23472141

Predicted Target Of
Summary Value
Count of predictions:4051
Count of miRNA genes:720
Interacting mature miRNAs:851
Transcripts:ENST00000374829, ENST00000374830, ENST00000374832, ENST00000374840, ENST00000425315, ENST00000468526, ENST00000539907, ENST00000540617
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 258 1 1 258 1 1 3
Medium 306 1161 1315 438 903 379 1269 236 1688 260 601 1179 60 998 470
Low 2021 1474 383 170 308 67 2698 1686 2002 129 797 338 107 206 1982 2 1
Below cutoff 56 89 16 12 207 14 367 269 32 15 36 63 6 1 335 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001177520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB011406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB012643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB176449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL592309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC090861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN425768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA574668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA625627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA631560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY052024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN688960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X53750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X95994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000374829
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl121,574,478 - 21,578,399 (+)Ensembl
RefSeq Acc Id: ENST00000374830   ⟹   ENSP00000363963
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl121,570,303 - 21,577,731 (+)Ensembl
RefSeq Acc Id: ENST00000374832   ⟹   ENSP00000363965
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl121,551,279 - 21,578,012 (+)Ensembl
RefSeq Acc Id: ENST00000374840   ⟹   ENSP00000363973
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl121,509,423 - 21,578,410 (+)Ensembl
RefSeq Acc Id: ENST00000468526
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl121,509,397 - 21,564,211 (+)Ensembl
RefSeq Acc Id: ENST00000539907   ⟹   ENSP00000437674
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl121,509,426 - 21,578,399 (+)Ensembl
RefSeq Acc Id: ENST00000540617   ⟹   ENSP00000442672
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl121,509,428 - 21,578,175 (+)Ensembl
RefSeq Acc Id: NM_000478   ⟹   NP_000469
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,509,423 - 21,578,410 (+)NCBI
GRCh37121,835,475 - 21,904,905 (+)NCBI
Build 36121,708,445 - 21,777,492 (+)NCBI Archive
HuRef120,079,620 - 20,148,672 (+)ENTREZGENE
CHM1_1121,947,884 - 22,016,920 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001127501   ⟹   NP_001120973
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,509,423 - 21,578,410 (+)NCBI
GRCh37121,835,475 - 21,904,905 (+)NCBI
HuRef120,079,620 - 20,148,672 (+)ENTREZGENE
CHM1_1121,947,884 - 22,016,920 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001177520   ⟹   NP_001170991
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,509,423 - 21,578,410 (+)NCBI
GRCh37121,835,475 - 21,904,905 (+)NCBI
HuRef120,079,620 - 20,148,672 (+)ENTREZGENE
CHM1_1121,947,884 - 22,016,920 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001369803   ⟹   NP_001356732
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,551,270 - 21,578,410 (+)NCBI
RefSeq Acc Id: NM_001369804   ⟹   NP_001356733
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,508,984 - 21,578,410 (+)NCBI
RefSeq Acc Id: NM_001369805   ⟹   NP_001356734
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,508,984 - 21,578,410 (+)NCBI
RefSeq Acc Id: XM_017000903   ⟹   XP_016856392
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,560,680 - 21,578,412 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000469 (Get FASTA)   NCBI Sequence Viewer  
  NP_001120973 (Get FASTA)   NCBI Sequence Viewer  
  NP_001170991 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356732 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356733 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356734 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856392 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB59378 (Get FASTA)   NCBI Sequence Viewer  
  AAD14985 (Get FASTA)   NCBI Sequence Viewer  
  AAH21289 (Get FASTA)   NCBI Sequence Viewer  
  AAH66116 (Get FASTA)   NCBI Sequence Viewer  
  AAH90861 (Get FASTA)   NCBI Sequence Viewer  
  AAI10910 (Get FASTA)   NCBI Sequence Viewer  
  AAI26166 (Get FASTA)   NCBI Sequence Viewer  
  AAI36326 (Get FASTA)   NCBI Sequence Viewer  
  AER29832 (Get FASTA)   NCBI Sequence Viewer  
  BAA32129 (Get FASTA)   NCBI Sequence Viewer  
  BAA88367 (Get FASTA)   NCBI Sequence Viewer  
  BAD93051 (Get FASTA)   NCBI Sequence Viewer  
  BAG35549 (Get FASTA)   NCBI Sequence Viewer  
  BAH11467 (Get FASTA)   NCBI Sequence Viewer  
  BAH12123 (Get FASTA)   NCBI Sequence Viewer  
  BAH12722 (Get FASTA)   NCBI Sequence Viewer  
  EAW94974 (Get FASTA)   NCBI Sequence Viewer  
  EAW94975 (Get FASTA)   NCBI Sequence Viewer  
  EAW94976 (Get FASTA)   NCBI Sequence Viewer  
  EAW94977 (Get FASTA)   NCBI Sequence Viewer  
  P05186 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000469   ⟸   NM_000478
- Peptide Label: isoform 1 preproprotein
- UniProtKB: P05186 (UniProtKB/Swiss-Prot),   A0A024RAG0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001120973   ⟸   NM_001127501
- Peptide Label: isoform 2
- UniProtKB: P05186 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001170991   ⟸   NM_001177520
- Peptide Label: isoform 3
- UniProtKB: P05186 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016856392   ⟸   XM_017000903
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001356734   ⟸   NM_001369805
- Peptide Label: isoform 1 precursor preproprotein
RefSeq Acc Id: NP_001356733   ⟸   NM_001369804
- Peptide Label: isoform 1 preproprotein
RefSeq Acc Id: NP_001356732   ⟸   NM_001369803
- Peptide Label: isoform 1 preproprotein
RefSeq Acc Id: ENSP00000363973   ⟸   ENST00000374840
RefSeq Acc Id: ENSP00000363963   ⟸   ENST00000374830
RefSeq Acc Id: ENSP00000363965   ⟸   ENST00000374832
RefSeq Acc Id: ENSP00000437674   ⟸   ENST00000539907
RefSeq Acc Id: ENSP00000442672   ⟸   ENST00000540617

Promoters
RGD ID:6854410
Promoter ID:EPDNEW_H370
Type:initiation region
Name:ALPL_2
Description:alkaline phosphatase, liver/bone/kidney
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H371  EPDNEW_H372  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,508,984 - 21,509,044EPDNEW
RGD ID:6854412
Promoter ID:EPDNEW_H371
Type:initiation region
Name:ALPL_1
Description:alkaline phosphatase, liver/bone/kidney
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H370  EPDNEW_H372  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,509,426 - 21,509,486EPDNEW
RGD ID:6854414
Promoter ID:EPDNEW_H372
Type:initiation region
Name:ALPL_3
Description:alkaline phosphatase, liver/bone/kidney
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H370  EPDNEW_H371  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,551,270 - 21,551,330EPDNEW
RGD ID:6784600
Promoter ID:HG_KWN:1202
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:ENST00000374840,   NM_001127501,   NM_001177520,   OTTHUMT00000008206
Position:
Human AssemblyChrPosition (strand)Source
Build 36121,707,951 - 21,708,451 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000478.6(ALPL):c.555C>T (p.Asp185=) single nucleotide variant not provided [RCV001494608] Chr1:21564123 [GRCh38]
Chr1:21890616 [GRCh37]
Chr1:1p36.12
likely benign
NM_000478.6(ALPL):c.648+1G>A single nucleotide variant Hypophosphatasia [RCV001553715]|Hypophosphatasia, perinatal lethal [RCV000014671]|Infantile hypophosphatasia [RCV000710058]|not provided [RCV001227927] Chr1:21564217 [GRCh38]
Chr1:21890710 [GRCh37]
Chr1:1p36.12
pathogenic
NM_000478.6(ALPL):c.610A>G (p.Ile204Val) single nucleotide variant not provided [RCV000723000] Chr1:21564178 [GRCh38]
Chr1:21890671 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.1373_1374delinsGA (p.Asp458Gly) indel not provided [RCV000722545] Chr1:21577446..21577447 [GRCh38]
Chr1:21903939..21903940 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.1373A>G (p.Asp458Gly) single nucleotide variant not provided [RCV000722717] Chr1:21577446 [GRCh38]
Chr1:21903939 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.535G>A (p.Ala179Thr) single nucleotide variant Infantile hypophosphatasia [RCV000014648]|not provided [RCV001093406] Chr1:21564103 [GRCh38]
Chr1:21890596 [GRCh37]
Chr1:1p36.12
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000478.6(ALPL):c.211C>T (p.Arg71Cys) single nucleotide variant Infantile hypophosphatasia [RCV000014649] Chr1:21561126 [GRCh38]
Chr1:21887619 [GRCh37]
Chr1:1p36.12
pathogenic|likely pathogenic
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala) single nucleotide variant Adult hypophosphatasia [RCV000014652]|Childhood hypophosphatasia [RCV000014651]|Hypophosphatasia [RCV000589324]|Infantile hypophosphatasia [RCV000014650]|not provided [RCV000224505] Chr1:21573683 [GRCh38]
Chr1:21900176 [GRCh37]
Chr1:1p36.12
pathogenic|likely pathogenic
NM_000478.6(ALPL):c.212G>C (p.Arg71Pro) single nucleotide variant Infantile hypophosphatasia [RCV000014653]|not provided [RCV001362179] Chr1:21561127 [GRCh38]
Chr1:21887620 [GRCh37]
Chr1:1p36.12
pathogenic|uncertain significance
NM_000478.6(ALPL):c.620A>C (p.Gln207Pro) single nucleotide variant Infantile hypophosphatasia [RCV000014654]|not provided [RCV000224906] Chr1:21564188 [GRCh38]
Chr1:21890681 [GRCh37]
Chr1:1p36.12
pathogenic
NM_000478.6(ALPL):c.98C>T (p.Ala33Val) single nucleotide variant Childhood hypophosphatasia [RCV001333468]|Hypophosphatasia [RCV001273156]|Infantile hypophosphatasia [RCV000014655]|not provided [RCV001042961] Chr1:21560662 [GRCh38]
Chr1:21887155 [GRCh37]
Chr1:1p36.12
pathogenic|uncertain significance
NM_000478.6(ALPL):c.1306T>C (p.Tyr436His) single nucleotide variant Infantile hypophosphatasia [RCV000014656] Chr1:21576638 [GRCh38]
Chr1:21903131 [GRCh37]
Chr1:1p36.12
pathogenic
NM_000478.6(ALPL):c.892G>A (p.Glu298Lys) single nucleotide variant Infantile hypophosphatasia [RCV000014657]|not provided [RCV001549327] Chr1:21573694 [GRCh38]
Chr1:21900187 [GRCh37]
Chr1:1p36.12
pathogenic
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) single nucleotide variant Adult hypophosphatasia [RCV000014660]|Adult hypophosphatasia [RCV000763300]|Childhood hypophosphatasia [RCV000014659]|Hypophosphatasia [RCV000207183]|Infantile hypophosphatasia [RCV000014658]|Odontohypophosphatasia [RCV001250150]|not provided [RCV000224962] Chr1:21564139 [GRCh38]
Chr1:21890632 [GRCh37]
Chr1:1p36.12
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000478.6(ALPL):c.1133A>T (p.Asp378Val) single nucleotide variant Adult hypophosphatasia [RCV000014662]|Adult hypophosphatasia [RCV000763302]|Hypophosphatasia [RCV000207084]|Infantile hypophosphatasia [RCV000014661]|not provided [RCV000224520] Chr1:21575868 [GRCh38]
Chr1:21902361 [GRCh37]
Chr1:1p36.12
pathogenic
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) single nucleotide variant Adult hypophosphatasia [RCV000763301]|Adult hypophosphatasia [RCV000786923]|Hypophosphatasia [RCV000207270]|Infantile hypophosphatasia [RCV000014663]|not provided [RCV000224376] Chr1:21575736 [GRCh38]
Chr1:21902229 [GRCh37]
Chr1:1p36.12
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) single nucleotide variant Adult hypophosphatasia [RCV000380876]|Hypophosphatasia [RCV000207096]|Infantile hypophosphatasia [RCV000014664]|not provided [RCV000724148] Chr1:21573781 [GRCh38]
Chr1:21900274 [GRCh37]
Chr1:1p36.12
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000478.6(ALPL):c.1559del (p.Leu520fs) deletion Hypophosphatasia [RCV000207209]|Infantile hypophosphatasia [RCV000014665]|not provided [RCV000346130] Chr1:21577632 [GRCh38]
Chr1:21904125 [GRCh37]
Chr1:1p36.12
pathogenic
NM_000478.6(ALPL):c.407G>A (p.Arg136His) single nucleotide variant Adult hypophosphatasia [RCV000770988]|Childhood hypophosphatasia [RCV000014666]|Hypophosphatasia [RCV000364426]|Infantile hypophosphatasia [RCV000169168]|none provided [RCV001287265]|not provided [RCV000767525] Chr1:21563219 [GRCh38]
Chr1:21889712 [GRCh37]
Chr1:1p36.12
pathogenic|likely pathogenic
NM_000478.6(ALPL):c.485G>T (p.Gly162Val) single nucleotide variant Childhood hypophosphatasia [RCV000014667]|Infantile hypophosphatasia [RCV000670940]|not provided [RCV001239346] Chr1:21564053 [GRCh38]
Chr1:21890546 [GRCh37]
Chr1:1p36.12
pathogenic|likely pathogenic|uncertain significance
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) single nucleotide variant Adult hypophosphatasia [RCV000014669]|Childhood hypophosphatasia [RCV000014668]|Hypophosphatasia [RCV000590781]|Infantile hypophosphatasia [RCV000169426]|Odontohypophosphatasia [RCV000014670]|not provided [RCV000224118] Chr1:21563158 [GRCh38]
Chr1:21889651 [GRCh37]
Chr1:1p36.12
pathogenic|likely pathogenic
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) single nucleotide variant Adult hypophosphatasia [RCV001253058]|Hypophosphatasia [RCV001194283]|Hypophosphatasia, perinatal lethal [RCV000169778]|Infantile hypophosphatasia [RCV000014672]|not provided [RCV000710510] Chr1:21576582 [GRCh38]
Chr1:21903075 [GRCh37]
Chr1:1p36.12
pathogenic|likely pathogenic
NM_000478.6(ALPL):c.323C>T (p.Pro108Leu) single nucleotide variant Odontohypophosphatasia [RCV000014673] Chr1:21563135 [GRCh38]
Chr1:21889628 [GRCh37]
Chr1:1p36.12
pathogenic
NM_000478.6(ALPL):c.1366G>A (p.Gly456Arg) single nucleotide variant Infantile hypophosphatasia [RCV000014674]|not provided [RCV001387538] Chr1:21577439 [GRCh38]
Chr1:21903932 [GRCh37]
Chr1:1p36.12
pathogenic
NM_000478.6(ALPL):c.746G>T (p.Gly249Val) single nucleotide variant Childhood hypophosphatasia [RCV000014675]|Infantile hypophosphatasia [RCV000668001]|Odontohypophosphatasia [RCV000014676]|not provided [RCV000723607] Chr1:21568201 [GRCh38]
Chr1:21894694 [GRCh37]
Chr1:1p36.12
pathogenic|likely pathogenic|uncertain significance
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) single nucleotide variant Adult hypophosphatasia [RCV000763299]|Childhood hypophosphatasia [RCV000014678]|Hypophosphatasia [RCV001275108]|Infantile hypophosphatasia [RCV000014677]|not provided [RCV000808101] Chr1:21564094 [GRCh38]
Chr1:21890587 [GRCh37]
Chr1:1p36.12
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000478.6(ALPL):c.814C>T (p.Arg272Cys) single nucleotide variant Childhood hypophosphatasia [RCV000169779]|Infantile hypophosphatasia [RCV000014679]|not provided [RCV000817506] Chr1:21570326 [GRCh38]
Chr1:21896819 [GRCh37]
Chr1:1p36.12
pathogenic
GRCh38/hg38 1p36.12(chr1:21341595-21861116)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051800]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051800]|See cases [RCV000051800] Chr1:21341595..21861116 [GRCh38]
Chr1:21668088..22187609 [GRCh37]
Chr1:21540675..22060196 [NCBI36]
Chr1:1p36.12
pathogenic
GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1 copy number loss See cases [RCV000053760] Chr1:10556797..22557907 [GRCh38]
Chr1:10616854..22884400 [GRCh37]
Chr1:10539441..22756987 [NCBI36]
Chr1:1p36.22-36.12
pathogenic
GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1 copy number loss See cases [RCV000053789] Chr1:18347821..22512894 [GRCh38]
Chr1:18674315..22839387 [GRCh37]
Chr1:18546902..22711974 [NCBI36]
Chr1:1p36.13-36.12
pathogenic
NM_000478.4(ALPL):c.1159G>A (p.Gly387Arg) single nucleotide variant Malignant melanoma [RCV000060086] Chr1:21575894 [GRCh38]
Chr1:21902387 [GRCh37]
Chr1:21774974 [NCBI36]
Chr1:1p36.12
not provided
NM_000478.6(ALPL):c.1565T>C (p.Val522Ala) single nucleotide variant Adult hypophosphatasia [RCV001533674]|Childhood hypophosphatasia [RCV001533673]|Hypophosphatasia [RCV000207281]|Infantile hypophosphatasia [RCV001533672]|none provided [RCV001282958]|not provided [RCV001523639]|not specified [RCV000174249] Chr1:21577638 [GRCh38]
Chr1:21904131 [GRCh37]
Chr1:1p36.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_000478.6(ALPL):c.330T>C (p.Ser110=) single nucleotide variant Adult hypophosphatasia [RCV001533724]|Childhood hypophosphatasia [RCV001533723]|Infantile hypophosphatasia [RCV001533722]|not provided [RCV001514855]|not specified [RCV000178778] Chr1:21563142 [GRCh38]
Chr1:21889635 [GRCh37]
Chr1:1p36.12
benign
NM_000478.6(ALPL):c.455G>A (p.Arg152His) single nucleotide variant Adult hypophosphatasia [RCV001533727]|Childhood hypophosphatasia [RCV001533726]|Hypophosphatasia [RCV000207050]|Infantile hypophosphatasia [RCV001533725]|none provided [RCV001283474]|not provided [RCV000224237]|not specified [RCV000178779] Chr1:21563267 [GRCh38]
Chr1:21889760 [GRCh37]
Chr1:1p36.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_000478.6(ALPL):c.787T>C (p.Tyr263His) single nucleotide variant Adult hypophosphatasia [RCV001533733]|Childhood hypophosphatasia [RCV001533732]|Hypophosphatasia [RCV000207155]|Infantile hypophosphatasia [RCV001533731]|none provided [RCV001283489]|not provided [RCV001516773]|not specified [RCV000179760] Chr1:21568242 [GRCh38]
Chr1:21894735 [GRCh37]
Chr1:1p36.12
benign
NM_000478.6(ALPL):c.662del (p.Gly221fs) deletion Hypophosphatasia [RCV001290555] Chr1:21568112 [GRCh38]
Chr1:21894605 [GRCh37]
Chr1:1p36.12
likely pathogenic
GRCh38/hg38 1p36.12(chr1:21495674-22049209)x3 copy number gain See cases [RCV000137363] Chr1:21495674..22049209 [GRCh38]
Chr1:21822167..22375702 [GRCh37]
Chr1:21694754..22248289 [NCBI36]
Chr1:1p36.12
uncertain significance
GRCh38/hg38 1p36.12(chr1:21399130-22696747)x1 copy number loss See cases [RCV000138071] Chr1:21399130..22696747 [GRCh38]
Chr1:21725623..23023240 [GRCh37]
Chr1:21598210..22895827 [NCBI36]
Chr1:1p36.12
likely pathogenic|uncertain significance
NM_000478.6(ALPL):c.303del (p.Thr100_Tyr101insTer) deletion not provided [RCV000514689] Chr1:21563115 [GRCh38]
Chr1:21889608 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_000478.6(ALPL):c.791A>G (p.Lys264Arg) single nucleotide variant Hypophosphatasia [RCV001264499]|Infantile hypophosphatasia [RCV000169064]|not provided [RCV001378582] Chr1:21568246 [GRCh38]
Chr1:21894739 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_000478.6(ALPL):c.871G>A (p.Glu291Lys) single nucleotide variant Infantile hypophosphatasia [RCV000169122] Chr1:21573673 [GRCh38]
Chr1:21900166 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) single nucleotide variant Adult hypophosphatasia [RCV001196302]|Infantile hypophosphatasia [RCV000169128]|not provided [RCV000729215] Chr1:21564110 [GRCh38]
Chr1:21890603 [GRCh37]
Chr1:1p36.12
pathogenic|likely pathogenic
NM_000478.6(ALPL):c.400_401delinsCA (p.Thr134His) indel Adult hypophosphatasia [RCV000763298]|Hypophosphatemia [RCV000845007]|Infantile hypophosphatasia [RCV000169231]|not provided [RCV000350796] Chr1:21563212..21563213 [GRCh38]
Chr1:21889705..21889706 [GRCh37]
Chr1:1p36.12
pathogenic|likely pathogenic|not provided
NM_000478.6(ALPL):c.215T>C (p.Ile72Thr) single nucleotide variant Infantile hypophosphatasia [RCV000169295]|not provided [RCV001204937] Chr1:21561130 [GRCh38]
Chr1:21887623 [GRCh37]
Chr1:1p36.12
pathogenic|likely pathogenic
NM_000478.6(ALPL):c.667C>T (p.Arg223Trp) single nucleotide variant Infantile hypophosphatasia [RCV000169383]|not provided [RCV001208323] Chr1:21568122 [GRCh38]
Chr1:21894615 [GRCh37]
Chr1:1p36.12
pathogenic|likely pathogenic
NM_000478.6(ALPL):c.809G>A (p.Trp270Ter) single nucleotide variant Infantile hypophosphatasia [RCV000169412] Chr1:21570321 [GRCh38]
Chr1:21896814 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_000478.6(ALPL):c.891C>A (p.Tyr297Ter) single nucleotide variant Infantile hypophosphatasia [RCV000169514] Chr1:21573693 [GRCh38]
Chr1:21900186 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_000478.6(ALPL):c.398C>G (p.Ala133Gly) single nucleotide variant not provided [RCV000178776] Chr1:21563210 [GRCh38]
Chr1:21889703 [GRCh37]
Chr1:1p36.12
conflicting interpretations of pathogenicity|uncertain significance
NM_000478.6(ALPL):c.436G>A (p.Glu146Lys) single nucleotide variant Hypophosphatasia [RCV001096294]|not provided [RCV000178777]|not specified [RCV001553716] Chr1:21563248 [GRCh38]
Chr1:21889741 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.1002C>T (p.Gly334=) single nucleotide variant Hypophosphatasia [RCV000388202]|not provided [RCV000726419] Chr1:21575737 [GRCh38]
Chr1:21902230 [GRCh37]
Chr1:1p36.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000478.6(ALPL):c.1381G>A (p.Val461Ile) single nucleotide variant Hypophosphatasia [RCV000390811]|none provided [RCV001285513]|not provided [RCV000514153] Chr1:21577454 [GRCh38]
Chr1:21903947 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_000478.6(ALPL):c.1542G>A (p.Ala514=) single nucleotide variant Hypophosphatasia [RCV000402710]|not provided [RCV000977439] Chr1:21577615 [GRCh38]
Chr1:21904108 [GRCh37]
Chr1:1p36.12
likely benign|uncertain significance
NM_000478.6(ALPL):c.413G>A (p.Arg138Gln) single nucleotide variant Hypophosphatasia [RCV000404402]|not provided [RCV000941105]|not specified [RCV000502406] Chr1:21563225 [GRCh38]
Chr1:21889718 [GRCh37]
Chr1:1p36.12
likely benign|uncertain significance
NM_000478.6(ALPL):c.1282C>T (p.Arg428Ter) single nucleotide variant Hypophosphatasia [RCV001194282]|not provided [RCV001205339] Chr1:21576614 [GRCh38]
Chr1:21903107 [GRCh37]
Chr1:1p36.12
pathogenic
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) single nucleotide variant Hypophosphatasia [RCV000263557]|not provided [RCV000710516] Chr1:21570330 [GRCh38]
Chr1:21896823 [GRCh37]
Chr1:1p36.12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000478.6(ALPL):c.1014C>T (p.His338=) single nucleotide variant Hypophosphatasia [RCV000289246]|not provided [RCV000939251] Chr1:21575749 [GRCh38]
Chr1:21902242 [GRCh37]
Chr1:1p36.12
likely benign|uncertain significance
NM_000478.6(ALPL):c.534C>T (p.Tyr178=) single nucleotide variant Hypophosphatasia [RCV000266690]|not provided [RCV000756986] Chr1:21564102 [GRCh38]
Chr1:21890595 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_000478.6(ALPL):c.1274G>A (p.Gly425Asp) single nucleotide variant Hypophosphatasia [RCV000290738] Chr1:21576606 [GRCh38]
Chr1:21903099 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.1131G>A (p.Ala377=) single nucleotide variant Hypophosphatasia [RCV000385133]|not provided [RCV001486728] Chr1:21575866 [GRCh38]
Chr1:21902359 [GRCh37]
Chr1:1p36.12
likely benign|uncertain significance
Single allele complex Ductal breast carcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11
uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
chr1:17555508-24706269 complex variant complex Ductal breast carcinoma [RCV000207266] Chr1:17555508..24706269 [GRCh37]
Chr1:1p36.13-36.11
uncertain significance
NM_000478.6(ALPL):c.1558_1559del (p.Leu520fs) deletion Infantile hypophosphatasia [RCV000669962]|Low alkaline phosphatase [RCV000515710] Chr1:21577631..21577632 [GRCh38]
Chr1:21904124..21904125 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_000478.6(ALPL):c.1425C>T (p.His475=) single nucleotide variant Hypophosphatasia [RCV000306160]|not provided [RCV000885116] Chr1:21577498 [GRCh38]
Chr1:21903991 [GRCh37]
Chr1:1p36.12
likely benign|uncertain significance
NM_000478.6(ALPL):c.*65C>A single nucleotide variant Hypophosphatasia [RCV000310997] Chr1:21577713 [GRCh38]
Chr1:21904206 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_000478.6(ALPL):c.997+11C>T single nucleotide variant Hypophosphatasia [RCV000333762]|not provided [RCV001530796] Chr1:21573810 [GRCh38]
Chr1:21900303 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_000478.6(ALPL):c.1506G>A (p.Ser502=) single nucleotide variant Hypophosphatasia [RCV000342385]|not provided [RCV001426054] Chr1:21577579 [GRCh38]
Chr1:21904072 [GRCh37]
Chr1:1p36.12
likely benign|uncertain significance
NM_000478.6(ALPL):c.1119C>T (p.Thr373=) single nucleotide variant Hypophosphatasia [RCV000344290]|none provided [RCV001285512]|not provided [RCV000710509] Chr1:21575854 [GRCh38]
Chr1:21902347 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_000478.6(ALPL):c.648C>T (p.Asp216=) single nucleotide variant Hypophosphatasia [RCV000317133]|not provided [RCV001363813] Chr1:21564216 [GRCh38]
Chr1:21890709 [GRCh37]
Chr1:1p36.12
likely benign|uncertain significance
NM_000478.6(ALPL):c.1329G>A (p.Ala443=) single nucleotide variant Hypophosphatasia [RCV000341004]|not provided [RCV001425435] Chr1:21577402 [GRCh38]
Chr1:21903895 [GRCh37]
Chr1:1p36.12
likely benign|uncertain significance
NM_000478.6(ALPL):c.1183A>T (p.Ile395Phe) single nucleotide variant Inborn genetic diseases [RCV000622740] Chr1:21575918 [GRCh38]
Chr1:21902411 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.1404G>A (p.Ala468=) single nucleotide variant not provided [RCV000981301]|not specified [RCV000246014] Chr1:21577477 [GRCh38]
Chr1:21903970 [GRCh37]
Chr1:1p36.12
likely benign
NM_000478.6(ALPL):c.*460G>A single nucleotide variant Hypophosphatasia [RCV000278651] Chr1:21578108 [GRCh38]
Chr1:21904601 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_000478.6(ALPL):c.863-7T>C single nucleotide variant Adult hypophosphatasia [RCV001533618]|Childhood hypophosphatasia [RCV001533617]|Hypophosphatasia [RCV000387175]|Infantile hypophosphatasia [RCV001533616]|not provided [RCV001516774]|not specified [RCV000248708] Chr1:21573658 [GRCh38]
Chr1:21900151 [GRCh37]
Chr1:1p36.12
benign
NM_000478.6(ALPL):c.744C>T (p.Asp248=) single nucleotide variant not provided [RCV000913489]|not specified [RCV000251117] Chr1:21568199 [GRCh38]
Chr1:21894692 [GRCh37]
Chr1:1p36.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_000478.6(ALPL):c.*12C>T single nucleotide variant Hypophosphatasia [RCV000274567] Chr1:21577660 [GRCh38]
Chr1:21904153 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.863-46G>A single nucleotide variant Adult hypophosphatasia [RCV001533612]|Childhood hypophosphatasia [RCV001533611]|Infantile hypophosphatasia [RCV001533569]|not specified [RCV000243931] Chr1:21573619 [GRCh38]
Chr1:21900112 [GRCh37]
Chr1:1p36.12
benign
NM_000478.6(ALPL):c.792+45G>T single nucleotide variant Adult hypophosphatasia [RCV001533736]|Childhood hypophosphatasia [RCV001533735]|Infantile hypophosphatasia [RCV001533734]|not specified [RCV000246456] Chr1:21568292 [GRCh38]
Chr1:21894785 [GRCh37]
Chr1:1p36.12
benign
NM_000478.6(ALPL):c.1309+46C>T single nucleotide variant Adult hypophosphatasia [RCV001533671]|Childhood hypophosphatasia [RCV001533626]|Infantile hypophosphatasia [RCV001533625]|not specified [RCV000253791] Chr1:21576687 [GRCh38]
Chr1:21903180 [GRCh37]
Chr1:1p36.12
benign
NM_000478.6(ALPL):c.876A>G (p.Pro292=) single nucleotide variant Adult hypophosphatasia [RCV001533621]|Childhood hypophosphatasia [RCV001533620]|Hypophosphatasia [RCV000274166]|Infantile hypophosphatasia [RCV001533619]|none provided [RCV001283490]|not provided [RCV000710518]|not specified [RCV000253870] Chr1:21573678 [GRCh38]
Chr1:21900171 [GRCh37]
Chr1:1p36.12
benign
NM_000478.6(ALPL):c.793-31C>T single nucleotide variant Adult hypophosphatasia [RCV001533559]|Childhood hypophosphatasia [RCV001533558]|Infantile hypophosphatasia [RCV001533557]|not specified [RCV000251589] Chr1:21570274 [GRCh38]
Chr1:21896767 [GRCh37]
Chr1:1p36.12
benign
NM_000478.6(ALPL):c.863-12C>G single nucleotide variant Adult hypophosphatasia [RCV001533615]|Childhood hypophosphatasia [RCV001533614]|Hypophosphatasia [RCV000318779]|Infantile hypophosphatasia [RCV001533613]|not provided [RCV001523593]|not specified [RCV000246935] Chr1:21573653 [GRCh38]
Chr1:21900146 [GRCh37]
Chr1:1p36.12
benign
NM_000478.6(ALPL):c.863-15T>A single nucleotide variant not specified [RCV000251734] Chr1:21573650 [GRCh38]
Chr1:21900143 [GRCh37]
Chr1:1p36.12
likely benign
NM_000478.6(ALPL):c.473-148G>A single nucleotide variant Childhood hypophosphatasia [RCV001549123] Chr1:21563893 [GRCh38]
Chr1:21890386 [GRCh37]
Chr1:1p36.12
benign
NM_000478.6(ALPL):c.*204T>C single nucleotide variant Hypophosphatasia [RCV000271933]|not provided [RCV001564448] Chr1:21577852 [GRCh38]
Chr1:21904345 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_000478.6(ALPL):c.1189+19G>T single nucleotide variant Infantile hypophosphatasia [RCV000671597]|not provided [RCV001513493]|not specified [RCV000250665] Chr1:21575943 [GRCh38]
Chr1:21902436 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_000478.6(ALPL):c.862+20G>T single nucleotide variant Adult hypophosphatasia [RCV001533562]|Childhood hypophosphatasia [RCV001533561]|Infantile hypophosphatasia [RCV001533560]|not provided [RCV001519508]|not specified [RCV000243400] Chr1:21570394 [GRCh38]
Chr1:21896887 [GRCh37]
Chr1:1p36.12
benign
NM_000478.6(ALPL):c.1542G>T (p.Ala514=) single nucleotide variant Hypophosphatasia [RCV000297950]|none provided [RCV001285905]|not provided [RCV000710512]|not specified [RCV000250762] Chr1:21577615 [GRCh38]
Chr1:21904108 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_000478.6(ALPL):c.*66C>A single nucleotide variant Hypophosphatasia [RCV000277901] Chr1:21577714 [GRCh38]
Chr1:21904207 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_000478.6(ALPL):c.*305C>T single nucleotide variant Hypophosphatasia [RCV000376899] Chr1:21577953 [GRCh38]
Chr1:21904446 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_000478.6(ALPL):c.*473G>T single nucleotide variant Hypophosphatasia [RCV000336102] Chr1:21578121 [GRCh38]
Chr1:21904614 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_000478.6(ALPL):c.*433A>G single nucleotide variant Hypophosphatasia [RCV000380144] Chr1:21578081 [GRCh38]
Chr1:21904574 [GRCh37]
Chr1:1p36.12
benign
NM_000478.6(ALPL):c.-81G>A single nucleotide variant Hypophosphatasia [RCV000403514] Chr1:21554001 [GRCh38]
Chr1:21880494 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.*126A>G single nucleotide variant Hypophosphatasia [RCV000382769] Chr1:21577774 [GRCh38]
Chr1:21904267 [GRCh37]
Chr1:1p36.12
benign
NM_000478.6(ALPL):c.*697C>T single nucleotide variant Hypophosphatasia [RCV000406516] Chr1:21578345 [GRCh38]
Chr1:21904838 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.*388C>T single nucleotide variant Hypophosphatasia [RCV000342056] Chr1:21578036 [GRCh38]
Chr1:21904529 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_000478.6(ALPL):c.107C>T (p.Thr36Ile) single nucleotide variant Hypophosphatasia [RCV000309784] Chr1:21560671 [GRCh38]
Chr1:21887164 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.*233A>C single nucleotide variant Hypophosphatasia [RCV000329197]|not provided [RCV001540347] Chr1:21577881 [GRCh38]
Chr1:21904374 [GRCh37]
Chr1:1p36.12
benign
NM_000478.6(ALPL):c.*685A>T single nucleotide variant Hypophosphatasia [RCV000348598] Chr1:21578333 [GRCh38]
Chr1:21904826 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.*65C>T single nucleotide variant Hypophosphatasia [RCV000370356]|not provided [RCV001540486] Chr1:21577713 [GRCh38]
Chr1:21904206 [GRCh37]
Chr1:1p36.12
benign
NM_000478.6(ALPL):c.*480A>C single nucleotide variant Hypophosphatasia [RCV000393514] Chr1:21578128 [GRCh38]
Chr1:21904621 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_000478.6(ALPL):c.734C>T (p.Thr245Met) single nucleotide variant not provided [RCV000338911] Chr1:21568189 [GRCh38]
Chr1:21894682 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.1479C>T (p.Asn493=) single nucleotide variant not provided [RCV000277194] Chr1:21577552 [GRCh38]
Chr1:21904045 [GRCh37]
Chr1:1p36.12
conflicting interpretations of pathogenicity|uncertain significance
NM_000478.6(ALPL):c.673T>C (p.Tyr225His) single nucleotide variant not provided [RCV000393235] Chr1:21568128 [GRCh38]
Chr1:21894621 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.920C>T (p.Pro307Leu) single nucleotide variant not provided [RCV000322603] Chr1:21573722 [GRCh38]
Chr1:21900215 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.612C>T (p.Ile204=) single nucleotide variant Hypophosphatasia [RCV001098040]|not provided [RCV000398912] Chr1:21564180 [GRCh38]
Chr1:21890673 [GRCh37]
Chr1:1p36.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000478.6(ALPL):c.237C>T (p.His79=) single nucleotide variant Hypophosphatasia [RCV001279674] Chr1:21561152 [GRCh38]
Chr1:21887645 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.846T>C (p.Asn282=) single nucleotide variant Hypophosphatasia [RCV001279675]|not provided [RCV001395490] Chr1:21570358 [GRCh38]
Chr1:21896851 [GRCh37]
Chr1:1p36.12
likely benign|uncertain significance
NM_000478.6(ALPL):c.1189+295GATG[8] microsatellite not provided [RCV001575242] Chr1:21576219..21576222 [GRCh38]
Chr1:21902712..21902715 [GRCh37]
Chr1:1p36.12
likely benign
NM_000478.6(ALPL):c.1454C>T (p.Ala485Val) single nucleotide variant Low alkaline phosphatase [RCV000346514] Chr1:21577527 [GRCh38]
Chr1:21904020 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_000478.6(ALPL):c.*343C>T single nucleotide variant Hypophosphatasia [RCV000284747] Chr1:21577991 [GRCh38]
Chr1:21904484 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.*124del deletion Hypophosphatasia [RCV000325855] Chr1:21577770 [GRCh38]
Chr1:21904263 [GRCh37]
Chr1:1p36.12
likely benign
NM_000478.6(ALPL):c.*694dup duplication Hypophosphatasia [RCV000300775] Chr1:21578333..21578334 [GRCh38]
Chr1:21904826..21904827 [GRCh37]
Chr1:1p36.12
likely benign
NM_000478.6(ALPL):c.*752A>G single nucleotide variant Hypophosphatasia [RCV000313556] Chr1:21578400 [GRCh38]
Chr1:21904893 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.472+12del deletion Hypophosphatasia [RCV000361110]|none provided [RCV000507872]|not provided [RCV000586887]|not specified [RCV001529985] Chr1:21563292 [GRCh38]
Chr1:21889785 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_000478.6(ALPL):c.921G>A (p.Pro307=) single nucleotide variant not provided [RCV000592701] Chr1:21573723 [GRCh38]
Chr1:21900216 [GRCh37]
Chr1:1p36.12
conflicting interpretations of pathogenicity|uncertain significance
NM_000478.6(ALPL):c.360_361del (p.Val121fs) deletion Skeletal dysplasia [RCV000584762]|not provided [RCV001046634] Chr1:21563170..21563171 [GRCh38]
Chr1:21889663..21889664 [GRCh37]
Chr1:1p36.12
pathogenic
NM_000478.6(ALPL):c.499A>G (p.Thr167Ala) single nucleotide variant not provided [RCV000588622] Chr1:21564067 [GRCh38]
Chr1:21890560 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.205_212del (p.Ala69fs) deletion not provided [RCV000599008] Chr1:21561118..21561125 [GRCh38]
Chr1:21887611..21887618 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_000478.6(ALPL):c.395C>T (p.Ala132Val) single nucleotide variant not provided [RCV000730364] Chr1:21563207 [GRCh38]
Chr1:21889700 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_000478.6(ALPL):c.1171dup (p.Arg391fs) duplication Infantile hypophosphatasia [RCV000984144]|not provided [RCV000599365] Chr1:21575900..21575901 [GRCh38]
Chr1:21902393..21902394 [GRCh37]
Chr1:1p36.12
pathogenic|likely pathogenic
NM_000478.6(ALPL):c.340G>A (p.Ala114Thr) single nucleotide variant Hypophosphatasia [RCV000709831]|not provided [RCV000522077] Chr1:21563152 [GRCh38]
Chr1:21889645 [GRCh37]
Chr1:1p36.12
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000478.6(ALPL):c.903del (p.Asn302fs) deletion Infantile hypophosphatasia [RCV000409238] Chr1:21573704 [GRCh38]
Chr1:21900197 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_000478.6(ALPL):c.810G>A (p.Trp270Ter) single nucleotide variant not provided [RCV000722896] Chr1:21570322 [GRCh38]
Chr1:21896815 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.994G>T (p.Glu332Ter) single nucleotide variant not provided [RCV000722315] Chr1:21573796 [GRCh38]
Chr1:21900289 [GRCh37]
Chr1:1p36.12
pathogenic|uncertain significance
NM_000478.6(ALPL):c.522del (p.Ser175fs) deletion Infantile hypophosphatasia [RCV000409728]|not provided [RCV000710515] Chr1:21564086 [GRCh38]
Chr1:21890579 [GRCh37]
Chr1:1p36.12
pathogenic|likely pathogenic
NM_000478.6(ALPL):c.928_929del (p.Ser310fs) microsatellite Infantile hypophosphatasia [RCV000409870] Chr1:21573727..21573728 [GRCh38]
Chr1:21900220..21900221 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_000478.6(ALPL):c.88C>T (p.Arg30Ter) single nucleotide variant Infantile hypophosphatasia [RCV000410316]|not provided [RCV001050992] Chr1:21560652 [GRCh38]
Chr1:21887145 [GRCh37]
Chr1:1p36.12
pathogenic|likely pathogenic
NM_000478.6(ALPL):c.1426G>T (p.Glu476Ter) single nucleotide variant Infantile hypophosphatasia [RCV000410612] Chr1:21577499 [GRCh38]
Chr1:21903992 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_000478.6(ALPL):c.997+2T>G single nucleotide variant Infantile hypophosphatasia [RCV000410728]|not provided [RCV001214322] Chr1:21573801 [GRCh38]
Chr1:21900294 [GRCh37]
Chr1:1p36.12
pathogenic
NM_000478.6(ALPL):c.114del (p.Lys38fs) deletion Infantile hypophosphatasia [RCV000411021] Chr1:21560676 [GRCh38]
Chr1:21887169 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_000478.6(ALPL):c.46_49del (p.Asn16fs) deletion Hypophosphatasia [RCV001255507]|Infantile hypophosphatasia [RCV000411162]|Skeletal dysplasia [RCV000584822] Chr1:21554124..21554127 [GRCh38]
Chr1:21880617..21880620 [GRCh37]
Chr1:1p36.12
pathogenic|likely pathogenic
NM_000478.6(ALPL):c.297+2T>A single nucleotide variant Infantile hypophosphatasia [RCV000411240] Chr1:21561214 [GRCh38]
Chr1:21887707 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_000478.6(ALPL):c.1530_1549del (p.Leu512fs) deletion Infantile hypophosphatasia [RCV000411326] Chr1:21577598..21577617 [GRCh38]
Chr1:21904091..21904110 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_000478.6(ALPL):c.1309+13G>A single nucleotide variant Low alkaline phosphatase [RCV000515706] Chr1:21576654 [GRCh38]
Chr1:21903147 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.61+2T>G single nucleotide variant Infantile hypophosphatasia [RCV000409382] Chr1:21554144 [GRCh38]
Chr1:21880637 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_000478.6(ALPL):c.1144G>A (p.Val382Ile) single nucleotide variant Infantile hypophosphatasia [RCV000411905] Chr1:21575879 [GRCh38]
Chr1:21902372 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser) single nucleotide variant Hypophosphatasia [RCV000778967]|Infantile hypophosphatasia [RCV000411942]|not provided [RCV001045527] Chr1:21577436 [GRCh38]
Chr1:21903929 [GRCh37]
Chr1:1p36.12
pathogenic|likely pathogenic
NM_000478.6(ALPL):c.129del (p.Gln44fs) deletion Infantile hypophosphatasia [RCV000411776] Chr1:21560692 [GRCh38]
Chr1:21887185 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_000478.6(ALPL):c.841del (p.His281fs) deletion Infantile hypophosphatasia [RCV000411878] Chr1:21570349 [GRCh38]
Chr1:21896842 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_000478.6(ALPL):c.662dup (p.Gly222fs) duplication Infantile hypophosphatasia [RCV000412052]|not provided [RCV001042114] Chr1:21568111..21568112 [GRCh38]
Chr1:21894604..21894605 [GRCh37]
Chr1:1p36.12
pathogenic|likely pathogenic
NM_000478.6(ALPL):c.1088_1091dup (p.Ser364fs) microsatellite Infantile hypophosphatasia [RCV000412106] Chr1:21575813..21575814 [GRCh38]
Chr1:21902306..21902307 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_000478.6(ALPL):c.998-2A>G single nucleotide variant Infantile hypophosphatasia [RCV000412264] Chr1:21575731 [GRCh38]
Chr1:21902224 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_000478.6(ALPL):c.1207A>T (p.Ser403Cys) single nucleotide variant Low alkaline phosphatase [RCV000515666] Chr1:21576539 [GRCh38]
Chr1:21903032 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.130C>T (p.Gln44Ter) single nucleotide variant Hypophosphatasia [RCV001175579]|Infantile hypophosphatasia [RCV000408970]|not provided [RCV001389814] Chr1:21560694 [GRCh38]
Chr1:21887187 [GRCh37]
Chr1:1p36.12
pathogenic|likely pathogenic
GRCh37/hg19 1p36.13-36.12(chr1:20067124-22537862)x1 copy number loss See cases [RCV000447314] Chr1:20067124..22537862 [GRCh37]
Chr1:1p36.13-36.12
pathogenic
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12
pathogenic
NM_000478.6(ALPL):c.586G>A (p.Ala196Thr) single nucleotide variant not provided [RCV000445114] Chr1:21564154 [GRCh38]
Chr1:21890647 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.782C>T (p.Pro261Leu) single nucleotide variant not provided [RCV000418497] Chr1:21568237 [GRCh38]
Chr1:21894730 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.227A>G (p.Gln76Arg) single nucleotide variant not provided [RCV000418683] Chr1:21561142 [GRCh38]
Chr1:21887635 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.40C>T (p.Leu14Phe) single nucleotide variant Hypophosphatasia [RCV001277094]|none provided [RCV001289647]|not provided [RCV000442772] Chr1:21554121 [GRCh38]
Chr1:21880614 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.1004G>C (p.Arg335Thr) single nucleotide variant not provided [RCV000733233] Chr1:21575739 [GRCh38]
Chr1:21902232 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.668G>A (p.Arg223Gln) single nucleotide variant Infantile hypophosphatasia [RCV000984145]|none provided [RCV001286686]|not provided [RCV000428517] Chr1:21568123 [GRCh38]
Chr1:21894616 [GRCh37]
Chr1:1p36.12
pathogenic|likely pathogenic
NM_000478.6(ALPL):c.876_882delinsT (p.Gly293_Asp294del) indel Low alkaline phosphatase [RCV000515669] Chr1:21573678..21573684 [GRCh38]
Chr1:21900171..21900177 [GRCh37]
Chr1:1p36.12
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000478.6(ALPL):c.449T>A (p.Ile150Asn) single nucleotide variant not specified [RCV000503579] Chr1:21563261 [GRCh38]
Chr1:21889754 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.757G>A (p.Val253Ile) single nucleotide variant not specified [RCV000500224] Chr1:21568212 [GRCh38]
Chr1:21894705 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val) single nucleotide variant Low alkaline phosphatase [RCV000490707]|not provided [RCV001380649] Chr1:21577476 [GRCh38]
Chr1:21903969 [GRCh37]
Chr1:1p36.12
pathogenic|uncertain significance
NM_000478.6(ALPL):c.283G>A (p.Val95Met) single nucleotide variant Adult hypophosphatasia [RCV001535923]|Hypophosphatasia [RCV001273158]|Low alkaline phosphatase [RCV000490714]|not provided [RCV001067182] Chr1:21561198 [GRCh38]
Chr1:21887691 [GRCh37]
Chr1:1p36.12
likely pathogenic|uncertain significance
NM_000478.6(ALPL):c.1349G>A (p.Arg450His) single nucleotide variant Hypophosphatasia [RCV001275111]|Infantile hypophosphatasia [RCV000670256]|not provided [RCV000755807] Chr1:21577422 [GRCh38]
Chr1:21903915 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.793-10T>C single nucleotide variant Low alkaline phosphatase [RCV000490736] Chr1:21570295 [GRCh38]
Chr1:21896788 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.530C>T (p.Ala177Val) single nucleotide variant Low alkaline phosphatase [RCV000490737] Chr1:21564098 [GRCh38]
Chr1:21890591 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.1343C>T (p.Pro448Leu) single nucleotide variant not provided [RCV000494553] Chr1:21577416 [GRCh38]
Chr1:21903909 [GRCh37]
Chr1:1p36.12
likely pathogenic|conflicting interpretations of pathogenicity
NM_000478.5(ALPL):c.472+8delG deletion not specified [RCV000507872] Chr1:21563292 [GRCh38]
Chr1:21889785 [GRCh37]
Chr1:1p36.12
benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000478.6(ALPL):c.188G>T (p.Gly63Val) single nucleotide variant not provided [RCV000595916] Chr1:21561103 [GRCh38]
Chr1:21887596 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.649-11G>C single nucleotide variant Infantile hypophosphatasia [RCV000664887] Chr1:21568093 [GRCh38]
Chr1:21894586 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.1575A>G (p.Ter525Trp) single nucleotide variant Infantile hypophosphatasia [RCV000666493] Chr1:21577648 [GRCh38]
Chr1:21904141 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_000478.6(ALPL):c.87G>A (p.Trp29Ter) single nucleotide variant Infantile hypophosphatasia [RCV000666764] Chr1:21560651 [GRCh38]
Chr1:21887144 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_000478.6(ALPL):c.658G>A (p.Gly220Arg) single nucleotide variant Infantile hypophosphatasia [RCV000670035]|not provided [RCV001236036] Chr1:21568113 [GRCh38]
Chr1:21894606 [GRCh37]
Chr1:1p36.12
likely pathogenic|uncertain significance
NM_000478.6(ALPL):c.1216_1219del (p.Asp406fs) deletion Infantile hypophosphatasia [RCV000670217] Chr1:21576545..21576548 [GRCh38]
Chr1:21903038..21903041 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_000478.6(ALPL):c.997+3A>G single nucleotide variant Infantile hypophosphatasia [RCV000672321]