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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 189980 OMIM
HGNC 76 HGNC
Ensembl ENSG00000097007 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM1648122 COSMIC
MONDO
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 Predictive Does Not Support Resistance Somatic 2 21865346 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
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