ERLEC1 endoplasmic reticulum lectin 1

Information
Symbol
ERLEC1
Type
protein-coding
Description
endoplasmic reticulum lectin 1
Entrez Gene ID
27248
Genome
hg19
Position
chr2:54,014,181-54,045,933
Genome
hg38
Position
chr2:53,787,044-53,818,796
MIM
611229 OMIM
HGNC
HGNC:25222 HGNC
Ensembl
ENSG00000068912 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 8
Benign 0 2
Likely benign 0 4
Uncertain significance 0 66
Ranking
ClinVar
0
0
0
72
8
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
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 C2orf30
SYNONYM CIM
SYNONYM CL24936
SYNONYM CL25084
SYNONYM HEL117
SYNONYM XTP3-B
SYNONYM XTP3TPB
MIM 611229 OMIM
HGNC HGNC:25222 HGNC
Ensembl ENSG00000068912 Ensembl
AllianceGenome HGNC:25222
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000405123.7 hg38 chr2 53,787,080 53,818,220 31,141
ENST00000691939.1 hg38 chr2 53,787,021 53,818,795 31,775
ENST00000685400.1 hg38 chr2 53,787,040 53,818,802 31,763
ENST00000690836.1 hg38 chr2 53,787,009 53,818,795 31,787
ENST00000689496.1 hg38 chr2 53,787,009 53,826,866 39,858
ENST00000692350.1 hg38 chr2 53,787,021 53,831,344 44,324
ENST00000689291.1 hg38 chr2 53,787,040 53,818,802 31,763
ENST00000689100.1 hg38 chr2 53,787,040 53,818,802 31,763
ENST00000687723.1 hg38 chr2 53,787,040 53,818,802 31,763
ENST00000690280.1 hg38 chr2 53,787,036 53,818,802 31,767
ENST00000687552.1 hg38 chr2 53,787,122 53,818,802 31,681
ENST00000692971.1 hg38 chr2 53,787,021 53,818,672 31,652
ENST00000185150.9 hg38 chr2 53,787,044 53,818,796 31,753
ENST00000378239.5 hg38 chr2 53,787,080 53,818,819 31,740
ENST00000691853.1 hg38 chr2 53,787,036 53,818,802 31,767
ENST00000688274.1 hg38 chr2 53,787,040 53,818,802 31,763
ENST00000688464.1 hg38 chr2 53,787,009 53,833,038 46,030
ENST00000690740.1 hg38 chr2 53,787,040 53,818,802 31,763
ENST00000185150.9 hg19 chr2 54,014,181 54,045,933 31,753
ENST00000378239.5 hg19 chr2 54,014,217 54,045,956 31,740
ENST00000405123.7 hg19 chr2 54,014,217 54,045,357 31,141
ENST00000685400.1 hg19 chr2 54,014,177 54,045,939 31,763
ENST00000689100.1 hg19 chr2 54,014,177 54,045,939 31,763
ENST00000687723.1 hg19 chr2 54,014,177 54,045,939 31,763
ENST00000688464.1 hg19 chr2 54,014,146 54,060,175 46,030
ENST00000689496.1 hg19 chr2 54,014,146 54,054,003 39,858
ENST00000690836.1 hg19 chr2 54,014,146 54,045,932 31,787
ENST00000687552.1 hg19 chr2 54,014,259 54,045,939 31,681
ENST00000692971.1 hg19 chr2 54,014,158 54,045,809 31,652
ENST00000688274.1 hg19 chr2 54,014,177 54,045,939 31,763
ENST00000690740.1 hg19 chr2 54,014,177 54,045,939 31,763
ENST00000689291.1 hg19 chr2 54,014,177 54,045,939 31,763
ENST00000691853.1 hg19 chr2 54,014,173 54,045,939 31,767
ENST00000690280.1 hg19 chr2 54,014,173 54,045,939 31,767
ENST00000691939.1 hg19 chr2 54,014,158 54,045,932 31,775
ENST00000692350.1 hg19 chr2 54,014,158 54,058,481 44,324
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