BMAL1 basic helix-loop-helix ARNT like 1

Information
Symbol
BMAL1
Type
protein-coding
Description
basic helix-loop-helix ARNT like 1
Entrez Gene ID
406
Genome
hg19
Position
chr11:13,299,377-13,408,809
Genome
hg38
Position
chr11:13,277,830-13,387,262
MIM
602550 OMIM
HGNC
HGNC:701 HGNC
Ensembl
ENSG00000133794 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 6
Uncertain significance 0 34
Ranking
ClinVar
0
0
0
44
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
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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 :
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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 ARNTL
SYNONYM ARNTL1
SYNONYM BMAL1c
SYNONYM JAP3
SYNONYM MOP3
SYNONYM PASD3
SYNONYM TIC
SYNONYM bHLHe5
MIM 602550 OMIM
HGNC HGNC:701 HGNC
Ensembl ENSG00000133794 Ensembl
AllianceGenome HGNC:701
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000673817.1 hg38 chr11 13,277,830 13,387,262 109,433
ENST00000403510.8 hg38 chr11 13,277,790 13,387,262 109,473
ENST00000389707.8 hg38 chr11 13,277,798 13,387,266 109,469
ENST00000401424.6 hg38 chr11 13,277,778 13,387,261 109,484
ENST00000403290.6 hg38 chr11 13,277,790 13,387,266 109,477
ENST00000403482.7 hg38 chr11 13,356,878 13,387,266 30,389
ENST00000403482.7 hg19 chr11 13,378,425 13,408,813 30,389
ENST00000673817.1 hg19 chr11 13,299,377 13,408,809 109,433
ENST00000389707.8 hg19 chr11 13,299,345 13,408,813 109,469
ENST00000401424.6 hg19 chr11 13,299,325 13,408,808 109,484
ENST00000403290.6 hg19 chr11 13,299,337 13,408,813 109,477
ENST00000403510.8 hg19 chr11 13,299,337 13,408,809 109,473
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