BRAF V600E mutation why turn into V640E mutaion in TCGA COAD cohort?

[LULUCHIU]

From the publication worldwide shows that BRAF V600E is most common point mutation, but recently I worked on the TCGA dataset, all V600E were converted to V640E which is so different from the data in the past.

[asmlgkj]

it maybe the reason of the GDC data, I found gdc also were V640E @LULUCHIU

[bryanjjones]

I just came across this issue. It depends on which isoform or splice variant you use for numbering. If you use isoform 1 or 2 (NP_004324.2 or NP_001341538.1), that amino acid ends up being number 600. If you use isoform 3 or 4 for numbering (NP_001361173.1 or NP_001361187.1), the amino acid is in position 640.

[mschubert]

Related: #516

The annotation at position 640 is now also the canonical transcript in Ensembl, so this should be the "correct" name