[ensembl-dev] Variant Consequence Predictor
Stuart Meacham
sm766 at cam.ac.uk
Fri Feb 25 09:23:37 GMT 2011
Hi list (Will!),
I have been using the Variant Consequence predictor in whole genome mode
and have (at least one) anomalous results. For example:
Transcript: ENST00000260061
SNP Residue Major Minor AA_Replacement Consequence
rs79525962 407 C T A/P NON_SYNONYMOUS_CODING
11_76371418_C/T 407 C T A/T NON_SYNONYMOUS_CODING
top line is data in Ensembl
second line is data (1000 Genomes) using the predictor. You can see the
Consequence predictor shows an amino acid change (A/T) at the same
position as Ensembl shows A/P.
Is one just wrong? And if so how do I check which one?
Cheers
Stuart
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