chr9:130878501:G>C Detail (hg38) (ABL1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr9:133,753,888-133,753,888 View the variant detail on this assembly version. |
hg38 | chr9:130,878,501-130,878,501 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_005157.5:c.1357G>C | NP_005148.2:p.Glu453Gln |
NM_007313.2:c.1414G>C | NP_009297.2:p.Glu472Gln | |
Ensemble | ENST00000318560.6:c.1357G>C | ENST00000318560.6:p.Glu453Gln |
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 |
![]() |
![]() |
Resistance | Somatic | 2 | 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
- hg38
- Position
- chr9:130,878,501-130,878,501
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- BCR-ABL E453Q
- Transcript 1 (CIViC Variant)
- ENST00000318560.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1509
Genome browser