RGD:13785663 Rat Genome Database

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Variant: RGD:13785663 -  Homo sapiens

RGD ID: 13785663
RS ID: rs367657406
ClinVar ID: CV540902
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALPL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 21,904,106
GRCh38 1 21,577,613
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001177520.3:c.1309G>A
NM_001127501.4:c.1375G>A
NM_000478.6:c.1540G>A
NM_001369803.2:c.1540G>A
More... 		05/18/2021 missense variant uncertain significance AllHighlyPenetrant; Childhood hypophosphatasia; Infantile hypophosphatasia; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ALPL
Accession:NM_000478
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 514
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MISPFLVLAIGTCLTNSLVPEKEKDPKYWRDQAQETLKYALELQKLNTNVAKNVIMFLGDGMGVSTVTAARILKGQLHHN
PGEETRLEMDKFPFVALSKTYNTNAQVPDSAGTATAYLCGVKANEGTVGVSAATERSRCNTTQGNEVTSILRWAKDAGKS
VGIVTTTRVNHATPSAAYAHSADRDWYSDNEMPPEALSQGCKDIAYQLMHNIRDIDVIMGGGRKYMYPKNKTDVEYESDE
KARGTRLDGLDLVDTWKSFKPRYKHSHFIWNRTELLTLDPHNVDYLLGLFEPGDMQYELNRNNVTDPSLSEMVVVAIQIL
RKNPKGFFLLVEGGRIDHGHHEGKAKQALHEAVEMDRAIGQAGSLTSSEDTLTVVTADHSHVFTFGGYTPRGNSIFGLAP
MLSDTDKKPFTAILYGNGPGYKVVGGERENVSMVDYAHNNYQAQSAVPLRHETHGGEDVAVFSKGPMAHLLHGVHEQNYV
PHVMAYAACIGANLGHCAPASSAGSLAAGPLLLTLALYPLSVLF*

Gene Symbol:ALPL
Accession:NM_001127501
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 459
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFLGDGMGVSTVTAARILKGQLHHNPGEETRLEMDKFPFVALSKTYNTNAQVPDSAGTATAYLCGVKANEGTVGVSAATE
RSRCNTTQGNEVTSILRWAKDAGKSVGIVTTTRVNHATPSAAYAHSADRDWYSDNEMPPEALSQGCKDIAYQLMHNIRDI
DVIMGGGRKYMYPKNKTDVEYESDEKARGTRLDGLDLVDTWKSFKPRYKHSHFIWNRTELLTLDPHNVDYLLGLFEPGDM
QYELNRNNVTDPSLSEMVVVAIQILRKNPKGFFLLVEGGRIDHGHHEGKAKQALHEAVEMDRAIGQAGSLTSSEDTLTVV
TADHSHVFTFGGYTPRGNSIFGLAPMLSDTDKKPFTAILYGNGPGYKVVGGERENVSMVDYAHNNYQAQSAVPLRHETHG
GEDVAVFSKGPMAHLLHGVHEQNYVPHVMAYAACIGANLGHCAPASSAGSLAAGPLLLTLALYPLSVLF*

Gene Symbol:ALPL
Accession:NM_001369804
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 514
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MISPFLVLAIGTCLTNSLVPEKEKDPKYWRDQAQETLKYALELQKLNTNVAKNVIMFLGDGMGVSTVTAARILKGQLHHN
PGEETRLEMDKFPFVALSKTYNTNAQVPDSAGTATAYLCGVKANEGTVGVSAATERSRCNTTQGNEVTSILRWAKDAGKS
VGIVTTTRVNHATPSAAYAHSADRDWYSDNEMPPEALSQGCKDIAYQLMHNIRDIDVIMGGGRKYMYPKNKTDVEYESDE
KARGTRLDGLDLVDTWKSFKPRYKHSHFIWNRTELLTLDPHNVDYLLGLFEPGDMQYELNRNNVTDPSLSEMVVVAIQIL
RKNPKGFFLLVEGGRIDHGHHEGKAKQALHEAVEMDRAIGQAGSLTSSEDTLTVVTADHSHVFTFGGYTPRGNSIFGLAP
MLSDTDKKPFTAILYGNGPGYKVVGGERENVSMVDYAHNNYQAQSAVPLRHETHGGEDVAVFSKGPMAHLLHGVHEQNYV
PHVMAYAACIGANLGHCAPASSAGSLAAGPLLLTLALYPLSVLF*

Gene Symbol:ALPL
Accession:NM_001369805
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 514
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MISPFLVLAIGTCLTNSLVPEKEKDPKYWRDQAQETLKYALELQKLNTNVAKNVIMFLGDGMGVSTVTAARILKGQLHHN
PGEETRLEMDKFPFVALSKTYNTNAQVPDSAGTATAYLCGVKANEGTVGVSAATERSRCNTTQGNEVTSILRWAKDAGKS
VGIVTTTRVNHATPSAAYAHSADRDWYSDNEMPPEALSQGCKDIAYQLMHNIRDIDVIMGGGRKYMYPKNKTDVEYESDE
KARGTRLDGLDLVDTWKSFKPRYKHSHFIWNRTELLTLDPHNVDYLLGLFEPGDMQYELNRNNVTDPSLSEMVVVAIQIL
RKNPKGFFLLVEGGRIDHGHHEGKAKQALHEAVEMDRAIGQAGSLTSSEDTLTVVTADHSHVFTFGGYTPRGNSIFGLAP
MLSDTDKKPFTAILYGNGPGYKVVGGERENVSMVDYAHNNYQAQSAVPLRHETHGGEDVAVFSKGPMAHLLHGVHEQNYV
PHVMAYAACIGANLGHCAPASSAGSLAAGPLLLTLALYPLSVLF*

Gene Symbol:ALPL
Accession:NM_001177520
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 437
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPWSFRSSTPTWLRMSSCSWEMTYNTNAQVPDSAGTATAYLCGVKANEGTVGVSAATERSRCNTTQGNEVTSILRWAKDA
GKSVGIVTTTRVNHATPSAAYAHSADRDWYSDNEMPPEALSQGCKDIAYQLMHNIRDIDVIMGGGRKYMYPKNKTDVEYE
SDEKARGTRLDGLDLVDTWKSFKPRYKHSHFIWNRTELLTLDPHNVDYLLGLFEPGDMQYELNRNNVTDPSLSEMVVVAI
QILRKNPKGFFLLVEGGRIDHGHHEGKAKQALHEAVEMDRAIGQAGSLTSSEDTLTVVTADHSHVFTFGGYTPRGNSIFG
LAPMLSDTDKKPFTAILYGNGPGYKVVGGERENVSMVDYAHNNYQAQSAVPLRHETHGGEDVAVFSKGPMAHLLHGVHEQ
NYVPHVMAYAACIGANLGHCAPASSAGSLAAGPLLLTLALYPLSVLF*

Gene Symbol:ALPL
Accession:XM_017000903
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 462
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPWSFRSSTPTWLRMSSCSWEMGQLHHNPGEETRLEMDKFPFVALSKTYNTNAQVPDSAGTATAYLCGVKANEGTVGVSA
ATERSRCNTTQGNEVTSILRWAKDAGKSVGIVTTTRVNHATPSAAYAHSADRDWYSDNEMPPEALSQGCKDIAYQLMHNI
RDIDVIMGGGRKYMYPKNKTDVEYESDEKARGTRLDGLDLVDTWKSFKPRYKHSHFIWNRTELLTLDPHNVDYLLGLFEP
GDMQYELNRNNVTDPSLSEMVVVAIQILRKNPKGFFLLVEGGRIDHGHHEGKAKQALHEAVEMDRAIGQAGSLTSSEDTL
TVVTADHSHVFTFGGYTPRGNSIFGLAPMLSDTDKKPFTAILYGNGPGYKVVGGERENVSMVDYAHNNYQAQSAVPLRHE
THGGEDVAVFSKGPMAHLLHGVHEQNYVPHVMAYAACIGANLGHCAPASSAGSLAAGPLLLTLALYPLSVLF*

Gene Symbol:ALPL
Accession:NM_001369803
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 514
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MISPFLVLAIGTCLTNSLVPEKEKDPKYWRDQAQETLKYALELQKLNTNVAKNVIMFLGDGMGVSTVTAARILKGQLHHN
PGEETRLEMDKFPFVALSKTYNTNAQVPDSAGTATAYLCGVKANEGTVGVSAATERSRCNTTQGNEVTSILRWAKDAGKS
VGIVTTTRVNHATPSAAYAHSADRDWYSDNEMPPEALSQGCKDIAYQLMHNIRDIDVIMGGGRKYMYPKNKTDVEYESDE
KARGTRLDGLDLVDTWKSFKPRYKHSHFIWNRTELLTLDPHNVDYLLGLFEPGDMQYELNRNNVTDPSLSEMVVVAIQIL
RKNPKGFFLLVEGGRIDHGHHEGKAKQALHEAVEMDRAIGQAGSLTSSEDTLTVVTADHSHVFTFGGYTPRGNSIFGLAP
MLSDTDKKPFTAILYGNGPGYKVVGGERENVSMVDYAHNNYQAQSAVPLRHETHGGEDVAVFSKGPMAHLLHGVHEQNYV
PHVMAYAACIGANLGHCAPASSAGSLAAGPLLLTLALYPLSVLF*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28127875   PMID:28492532   PMID:32160374  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000670050 CLINVAR
  RCV001001868 CLINVAR
  RCV002477499 CLINVAR
  RCV002531243 CLINVAR
dbSNP (RS) rs367657406 CLINVAR
MedGen C0268412 CLINVAR
  C0268413 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ALPL CLINVAR
OMIM 146300 CLINVAR
  171760 CLINVAR
  241500 CLINVAR
  241510 CLINVAR
SNOMED CT 20756002 CLINVAR
  55236002 CLINVAR