ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
Information
- Symbol
- ALG1
- Type
- protein-coding
- Description
- ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
- Entrez Gene ID
- 56052
- Genome
- hg19
- Position
- chr16:5,121,844-5,137,380
- Genome
- hg38
- Position
- chr16:5,071,843-5,087,379
- MIM
- 605907 OMIM
- HGNC
- HGNC:18294 HGNC
- Ensembl
- ENSG00000033011 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 124 |
| Likely pathogenic | 0 | 98 |
| Benign | 0 | 124 |
| Likely benign | 0 | 864 |
| Conflicting classifications of pathogenicity | 0 | 48 |
| no classification for the single variant | 0 | 2 |
| Uncertain significance | 0 | 486 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
296 |
 |
1,314 |
 |
24 |
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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| Category | : |
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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
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| Category | : |
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| 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 | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | CDG1K |
| SYNONYM | HMAT1 |
| SYNONYM | HMT-1 |
| SYNONYM | HMT1 |
| SYNONYM | MT-1 |
| SYNONYM | Mat-1 |
| SYNONYM | hMat-1 |
| MIM | 605907 OMIM |
| HGNC | HGNC:18294 HGNC |
| Ensembl | ENSG00000033011 Ensembl |
| AllianceGenome | HGNC:18294 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000588623.5 | hg38 | chr16 | 5,033,960 | 5,085,390 | 51,431 |
| ENST00000684335.1 | hg38 | chr16 | 5,071,806 | 5,085,505 | 13,700 |
| ENST00000683433.1 | hg38 | chr16 | 5,033,923 | 5,085,505 | 51,583 |
| ENST00000682985.1 | hg38 | chr16 | 5,033,923 | 5,085,532 | 51,610 |
| ENST00000684190.1 | hg38 | chr16 | 5,071,806 | 5,085,532 | 13,727 |
| ENST00000262374.10 | hg38 | chr16 | 5,071,843 | 5,087,379 | 15,537 |
| ENST00000682327.1 | hg38 | chr16 | 5,033,923 | 5,086,298 | 52,376 |
| ENST00000683739.1 | hg38 | chr16 | 5,072,536 | 5,085,550 | 13,015 |
| ENST00000682020.1 | hg38 | chr16 | 5,033,923 | 5,085,532 | 51,610 |
| ENST00000544428.1 | hg38 | chr16 | 5,072,248 | 5,085,057 | 12,810 |
| ENST00000262374.10 | hg19 | chr16 | 5,121,844 | 5,137,380 | 15,537 |
| ENST00000544428.1 | hg19 | chr16 | 5,122,249 | 5,135,058 | 12,810 |
| ENST00000588623.5 | hg19 | chr16 | 5,083,961 | 5,135,391 | 51,431 |
| ENST00000682327.1 | hg19 | chr16 | 5,083,924 | 5,136,299 | 52,376 |
| ENST00000682985.1 | hg19 | chr16 | 5,083,924 | 5,135,533 | 51,610 |
| ENST00000682020.1 | hg19 | chr16 | 5,083,924 | 5,135,533 | 51,610 |
| ENST00000683433.1 | hg19 | chr16 | 5,083,924 | 5,135,506 | 51,583 |
| ENST00000683739.1 | hg19 | chr16 | 5,122,537 | 5,135,551 | 13,015 |
| ENST00000684190.1 | hg19 | chr16 | 5,121,807 | 5,135,533 | 13,727 |
| ENST00000684335.1 | hg19 | chr16 | 5,121,807 | 5,135,506 | 13,700 |
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