variant allele [GENO_0000002]
An allele that varies in it sequence from what is considered the reference or canonical sequence at that location. Note that what is considered the ‘reference’ vs. ‘variant’ sequence at a given locus may be context-dependent - so being ‘variant’ is more a role played in a particular situation. A ‘variant allele’ contains a ‘sequence alteration’, or is itself a ‘sequence alteration’, that makes it vary_with some other allele to which it is being compared. But in any comparison of alternative sequences at a particular genomic location, the choice of a ‘reference’ vs the ‘variant’ is context-dependent - as comparisons in other contexts might consider a different feature to be the reference. So being ‘variant’ is more a role played in a particular situation - as an allele that is variant in one context/analysis may be considered reference in another. A variant allele can be variant along its entire extent, in which case it is considered a ‘sequence alteration’, or it can span a broader extent of sequence contains sequence alteration(s) as part. And example of the former is a SNP, and an example of the latter is a variant gene allele that contains one or more point mutations in its sequence.
Note
This page displays the raw VFB json record for this term. Please use the link below to open the term inside the Virtual Fly Brain viewerVFB Term Json
{
"term": {
"core": {
"iri": "http://purl.obolibrary.org/obo/GENO_0000002",
"symbol": "",
"types": [
"Entity",
"Class"
],
"short_form": "GENO_0000002",
"label": "variant allele"
},
"description": [
"An allele that varies in it sequence from what is considered the reference or canonical sequence at that location."
],
"comment": [
"Note that what is considered the 'reference' vs. 'variant' sequence at a given locus may be context-dependent - so being 'variant' is more a role played in a particular situation. A 'variant allele' contains a 'sequence alteration', or is itself a 'sequence alteration', that makes it vary_with some other allele to which it is being compared. But in any comparison of alternative sequences at a particular genomic location, the choice of a 'reference' vs the 'variant' is context-dependent - as comparisons in other contexts might consider a different feature to be the reference. So being 'variant' is more a role played in a particular situation - as an allele that is variant in one context/analysis may be considered reference in another.\n\nA variant allele can be variant along its entire extent, in which case it is considered a 'sequence alteration', or it can span a broader extent of sequence contains sequence alteration(s) as part. And example of the former is a SNP, and an example of the latter is a variant gene allele that contains one or more point mutations in its sequence."
]
},
"query": "Get JSON for Class",
"version": "44725ae",
"parents": [
{
"symbol": "",
"iri": "http://purl.obolibrary.org/obo/GENO_0000512",
"types": [
"Entity",
"Class"
],
"short_form": "GENO_0000512",
"label": "allele"
}
],
"relationships": [
{
"relation": {
"iri": "http://purl.obolibrary.org/obo/GENO_0000683",
"label": "varies_with",
"type": "varies_with"
},
"object": {
"symbol": "",
"iri": "http://purl.obolibrary.org/obo/GENO_0000036",
"types": [
"Entity",
"Class"
],
"short_form": "GENO_0000036",
"label": "reference allele"
}
}
],
"xrefs": [],
"anatomy_channel_image": [],
"pub_syn": [],
"def_pubs": [
{
"core": {
"symbol": "",
"iri": "http://flybase.org/reports/Unattributed",
"types": [
"Entity",
"Individual",
"pub"
],
"short_form": "Unattributed",
"label": ""
},
"FlyBase": "",
"PubMed": "",
"DOI": ""
}
]
}
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