[ensembl-dev] inconsistency when mapping the same variant from protein to genomics vs genomics to protein

[David Tamborero]

Hi there,

regarding the conversion from protein to genomic representation supported
by VEP, I ve found a funny case; if I input

TP53:p.E285V

VEP gives as output (vcf format)

17    7565261    TP53:p.E285V    T    A

And then if I input to VEP that vcf entry,  I obtain  two TP53 protein
annotations:

downstream_gene_variant for ENST00000359597
missense_variant for ENST00000413465

However, the missense variant is annotated as 285 Y/F   (and not the E/V
that I had at the start !)

so it looks that some inconsistency happened here, not sure why. Am I
missing some point ?

thanks in advance!
d
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