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Selecting HGVS annotation of canonical transcript #113

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hkarakurt8742 opened this issue Apr 7, 2021 · 3 comments
Open

Selecting HGVS annotation of canonical transcript #113

hkarakurt8742 opened this issue Apr 7, 2021 · 3 comments

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@hkarakurt8742
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As you know some variants have multiple NM_ coded transcripts. For example in this variant http://myvariant.info/v1/variant/chrX:g.153296529G>T, there are 7 different HGVS coding transcripts.

Is MyVariant.info have any system to choose the canonical transcripts?
Which way would be better to follow for this kind of transcripts?

Thank you in advance

@tdeboer-ilmn
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Just looking for the answer to this question myself...Any way to find the canonical transcript for a gene? There are no obvious fields in MyGene.info where I would expect it...

@newgene
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newgene commented Jan 24, 2022

@hkarakurt8742 this is how _id field in myvariant is defined:

https://docs.myvariant.info/en/latest/doc/data.html#id-field

when there is no proper mapping to chr, other HGVS names are used, e.g. some variants mapped only to the coding transcript not the genomic sequence yet.

This is certainly not a perfect system, and we are looking for a community-supported cannonical variant naming standard when it's available (e.g. #108)

@newgene
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newgene commented Jan 24, 2022

@tdeboer-ilmn "refseq.rna" field from MyGene.info?

http://mygene.info/v3/gene/1017?fields=refseq

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