chr9:133753888:G>A Detail (hg19) (ABL1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr9:133,753,888-133,753,888 |
hg38 | chr9:130,878,501-130,878,501 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_005157.5:c.1357G>A | NP_005148.2:p.Glu453Lys |
NM_007313.2:c.1414G>A | NP_009297.2:p.Glu472Lys | |
Ensemble | ENST00000318560.6:c.1357G>A | ENST00000318560.6:p.Glu453Lys |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
chronic myeloid leukemia | Bosutinib | C |
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Resistance | Somatic | 1 | 21865346 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
In this retrospective study, imatinib-resistant or -intolerant patients, with chronic phase CML and ... | CIViC Evidence | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- Genome
- hg19
- Position
- chr9:133,753,888-133,753,888
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Variant (CIViC) (CIViC Variant)
- BCR-ABL E453K
- Transcript 1 (CIViC Variant)
- ENST00000318560.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1535
Genome browser