Enter a variant below to see its SpliceAI scores. This can be any SNV or simple InDel within an exon or intron defined by GENCODE v38.

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Examples   (on hg38):
chr8-140300616-T-G
chr8   140300616   T   G
NM_000552.4(VWF):c.3797C>A (p.Pro1266Gln)

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Genome version:
Score type:
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Use Illumina's pre-computed scores:
What's New

To post issues or feature requests, please use
SpliceAI-lookup/issues

June 2, 2021
- show RefSeq ids for the subset of Ensembl ENST ids (~30%) that have one or more matching RefSeq NM ids according to Ensembl. See issue #8 for details.
- update to Gencode v38 (was previously on v37)

April 11, 2021
- show gray background for non-coding transcripts
- switch to showing all non-coding transcripts. (Previously, transcripts with Gencode biotypes like lncRNA, processed_pseudogene, processed_transcript, retained_intron, and nonsense_mediated_decay were filtered out if they overlapped protein_coding transcripts). See issue #6 for details.
- update to Gencode v37 (was previously on v36)

Related web tools:
liftover - simple hg19 <=> hg38 conversion for variants, positions, intervals
CMA search - search OMIM by genomic region, gene name, phenotype, etc.