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Ensembl transcripts completely match the reference genome they are annotated against, so HGVS transcript level variant descriptions will be mapped to the reference genome and annotated accurately. Where the underlying reference sequence changed in the move from GRCh37 to GRCh38, we incremented the transcript version.
This means you could effectively get all Ensembl transcripts by making them from exon coordinates.
I have already implemented this - see Example code feel free to take
If you do your own liftover (ie produce Ensembl transcript alignments for a build where the sequence doesn't match) then this guarantee may be broken, perhaps only take official alignments?
I have been told by Ensembl that:
This means you could effectively get all Ensembl transcripts by making them from exon coordinates.
I have already implemented this - see Example code feel free to take
If you do your own liftover (ie produce Ensembl transcript alignments for a build where the sequence doesn't match) then this guarantee may be broken, perhaps only take official alignments?
Example use case: biocommons/hgvs#621
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