Synonymous variants annotated using Variant studio not having HGVS p. amino acid names · Biostar

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Synonymous variants annotated using Variant studio not having HGVS p. amino acid names

Hi,

I have annotated a VCF file using Illumina Variant studio, the report generated does not have the names of amino acids for synonymous variants, instead they have mentioned in a format like eg.,"NM_0156676.3:c.918A>G(p.=)" in HGVS p. column. Is there any way to find the name of the amino acid in that location. I went through the http://www.hgvs.org but was not able to find a solution.

Thank you.

Regards, Athul

hgvd variantstudio hgvs variants

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updated 9.3 years ago by WouterDeCoster

• written 9.3 years ago by amk •

1 answer

Such annotation can be added to a vcf file using software such as VEP, Annovar or SnpEff.

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written 9.3 years ago by WouterDeCoster

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