UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.159713548T>A | CA343453427 | CRP | c.652A>T (p.Thr218Ser) c.286A>T (p.Thr96Ser) c.253A>T (p.Thr85Ser) c.118A>T (p.Thr40Ser) n.220A>T n.74+459A>T | |
| 1 | g.159713548T>C | CA343453428 | CRP | c.652A>G (p.Thr218Ala) c.286A>G (p.Thr96Ala) c.253A>G (p.Thr85Ala) c.118A>G (p.Thr40Ala) n.220A>G n.74+459A>G | |
| 1 | g.159713548T>G | CA343453429 | CRP | c.652A>C (p.Thr218Pro) c.286A>C (p.Thr96Pro) c.253A>C (p.Thr85Pro) c.118A>C (p.Thr40Pro) n.220A>C n.74+459A>C | |
| 1 | g.159713549G>A | CA421618171 | CRP | c.651C>T (p.Phe217=) c.285C>T (p.Phe95=) c.252C>T (p.Phe84=) c.117C>T (p.Phe39=) n.219C>T n.74+458C>T | |
| 1 | g.159713549G>C | CA343453430 | CRP | c.651C>G (p.Phe217Leu) c.285C>G (p.Phe95Leu) c.252C>G (p.Phe84Leu) c.117C>G (p.Phe39Leu) n.219C>G n.74+458C>G | |
| 1 | g.159713549G>T | CA343453431 | CRP | c.651C>A (p.Phe217Leu) c.285C>A (p.Phe95Leu) c.252C>A (p.Phe84Leu) c.117C>A (p.Phe39Leu) n.219C>A n.74+458C>A | |
| 1 | g.159713550A>C | CA343453432 | CRP | c.650T>G (p.Phe217Cys) c.284T>G (p.Phe95Cys) c.251T>G (p.Phe84Cys) c.116T>G (p.Phe39Cys) n.218T>G n.74+457T>G | |
| 1 | g.159713550A>G | CA343453433 | CRP | c.650T>C (p.Phe217Ser) c.284T>C (p.Phe95Ser) c.251T>C (p.Phe84Ser) c.116T>C (p.Phe39Ser) n.218T>C n.74+457T>C | |
| 1 | g.159713550A>T | CA343453434 | CRP | c.650T>A (p.Phe217Tyr) c.284T>A (p.Phe95Tyr) c.251T>A (p.Phe84Tyr) c.116T>A (p.Phe39Tyr) n.218T>A n.74+457T>A | |
| 1 | g.159713551A= | CA1202015326 | CRP | c.649T= (p.Phe217=) c.283T= (p.Phe95=) c.250T= (p.Phe84=) c.115T= (p.Phe39=) n.217T= n.74+456T= | |
| 1 | g.159713551A>C | CA343453437 | CRP | c.649T>G (p.Phe217Val) c.283T>G (p.Phe95Val) c.250T>G (p.Phe84Val) c.115T>G (p.Phe39Val) n.217T>G n.74+456T>G | dbSNP |
| 1 | g.159713551A>G | CA343453436 | CRP | c.649T>C (p.Phe217Leu) c.283T>C (p.Phe95Leu) c.250T>C (p.Phe84Leu) c.115T>C (p.Phe39Leu) n.217T>C n.74+456T>C | |
| 1 | g.159713551A>T | CA1189133 | CRP | c.649T>A (p.Phe217Ile) c.283T>A (p.Phe95Ile) c.250T>A (p.Phe84Ile) c.115T>A (p.Phe39Ile) n.217T>A n.74+456T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.159713552C>A | CA421618172 | CRP | c.648G>T (p.Val216=) c.282G>T (p.Val94=) c.249G>T (p.Val83=) c.114G>T (p.Val38=) n.216G>T n.74+455G>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.159713552C= | CA1202015328 | CRP | c.648G= (p.Val216=) c.282G= (p.Val94=) c.249G= (p.Val83=) c.114G= (p.Val38=) n.216G= n.74+455G= | |
| 1 | g.159713552C>G | CA421618174 | CRP | c.648G>C (p.Val216=) c.282G>C (p.Val94=) c.249G>C (p.Val83=) c.114G>C (p.Val38=) n.216G>C n.74+455G>C | |
| 1 | g.159713552C>T | CA421618173 | CRP | c.648G>A (p.Val216=) c.282G>A (p.Val94=) c.249G>A (p.Val83=) c.114G>A (p.Val38=) n.216G>A n.74+455G>A | |
| 1 | g.159713553A>C | CA343453438 | CRP | c.647T>G (p.Val216Gly) c.281T>G (p.Val94Gly) c.248T>G (p.Val83Gly) c.113T>G (p.Val38Gly) n.215T>G n.74+454T>G | |
| 1 | g.159713553A>G | CA343453439 | CRP | c.647T>C (p.Val216Ala) c.281T>C (p.Val94Ala) c.248T>C (p.Val83Ala) c.113T>C (p.Val38Ala) n.215T>C n.74+454T>C | |
| 1 | g.159713553A>T | CA343453440 | CRP | c.647T>A (p.Val216Glu) c.281T>A (p.Val94Glu) c.248T>A (p.Val83Glu) c.113T>A (p.Val38Glu) n.215T>A n.74+454T>A | |
| 1 | g.159713554C>A | CA343453441 | CRP | c.646G>T (p.Val216Leu) c.280G>T (p.Val94Leu) c.247G>T (p.Val83Leu) c.112G>T (p.Val38Leu) n.214G>T n.74+453G>T | |
| 1 | g.159713554C>G | CA343453442 | CRP | c.646G>C (p.Val216Leu) c.280G>C (p.Val94Leu) c.247G>C (p.Val83Leu) c.112G>C (p.Val38Leu) n.214G>C n.74+453G>C | |
| 1 | g.159713554C>T | CA343453443 | CRP | c.646G>A (p.Val216Met) c.280G>A (p.Val94Met) c.247G>A (p.Val83Met) c.112G>A (p.Val38Met) n.214G>A n.74+453G>A | ClinVar |
| 1 | g.159713555T>A | CA343453444 | CRP | c.645A>T (p.Glu215Asp) c.279A>T (p.Glu93Asp) c.246A>T (p.Glu82Asp) c.111A>T (p.Glu37Asp) n.213A>T n.74+452A>T | |
| 1 | g.159713555T>C | CA421618175 | CRP | c.645A>G (p.Glu215=) c.279A>G (p.Glu93=) c.246A>G (p.Glu82=) c.111A>G (p.Glu37=) n.213A>G n.74+452A>G | |
| 1 | g.159713555T>G | CA343453445 | CRP | c.645A>C (p.Glu215Asp) c.279A>C (p.Glu93Asp) c.246A>C (p.Glu82Asp) c.111A>C (p.Glu37Asp) n.213A>C n.74+452A>C | |
| 1 | g.159713556T>A | CA343453446 | CRP | c.644A>T (p.Glu215Val) c.278A>T (p.Glu93Val) c.245A>T (p.Glu82Val) c.110A>T (p.Glu37Val) n.212A>T n.74+451A>T | |
| 1 | g.159713556T>C | CA343453447 | CRP | c.644A>G (p.Glu215Gly) c.278A>G (p.Glu93Gly) c.245A>G (p.Glu82Gly) c.110A>G (p.Glu37Gly) n.212A>G n.74+451A>G | |
| 1 | g.159713556T>G | CA343453448 | CRP | c.644A>C (p.Glu215Ala) c.278A>C (p.Glu93Ala) c.245A>C (p.Glu82Ala) c.110A>C (p.Glu37Ala) n.212A>C n.74+451A>C | |
| 1 | g.159713557C>A | CA1189135 | CRP | c.643G>T (p.Glu215Ter) c.277G>T (p.Glu93Ter) c.244G>T (p.Glu82Ter) c.109G>T (p.Glu37Ter) n.211G>T n.74+450G>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.159713557C= | CA1143451365 | CRP | c.643G= (p.Glu215=) c.277G= (p.Glu93=) c.244G= (p.Glu82=) c.109G= (p.Glu37=) n.211G= n.74+450G= | |
| 1 | g.159713557C>G | CA343453449 | CRP | c.643G>C (p.Glu215Gln) c.277G>C (p.Glu93Gln) c.244G>C (p.Glu82Gln) c.109G>C (p.Glu37Gln) n.211G>C n.74+450G>C | |
| 1 | g.159713557C>T | CA1189134 | CRP | c.643G>A (p.Glu215Lys) c.277G>A (p.Glu93Lys) c.244G>A (p.Glu82Lys) c.109G>A (p.Glu37Lys) n.211G>A n.74+450G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.159713558G>A | CA1189136 | CRP | c.642C>T (p.Gly214=) c.276C>T (p.Gly92=) c.243C>T (p.Gly81=) c.108C>T (p.Gly36=) n.210C>T n.74+449C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.159713558G>C | CA421618176 | CRP | c.642C>G (p.Gly214=) c.276C>G (p.Gly92=) c.243C>G (p.Gly81=) c.108C>G (p.Gly36=) n.210C>G n.74+449C>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.159713558G= | CA1202015334 | CRP | c.642C= (p.Gly214=) c.276C= (p.Gly92=) c.243C= (p.Gly81=) c.108C= (p.Gly36=) n.210C= n.74+449C= | |
| 1 | g.159713558G>T | CA421618177 | CRP | c.642C>A (p.Gly214=) c.276C>A (p.Gly92=) c.243C>A (p.Gly81=) c.108C>A (p.Gly36=) n.210C>A n.74+449C>A | |
| 1 | g.159713559C>A | CA343453450 | CRP | c.641G>T (p.Gly214Val) c.275G>T (p.Gly92Val) c.242G>T (p.Gly81Val) c.107G>T (p.Gly36Val) n.209G>T n.74+448G>T | |
| 1 | g.159713559C= | CA1202015338 | CRP | c.641G= (p.Gly214=) c.275G= (p.Gly92=) c.242G= (p.Gly81=) c.107G= (p.Gly36=) n.209G= n.74+448G= | |
| 1 | g.159713559C>G | CA343453451 | CRP | c.641G>C (p.Gly214Ala) c.275G>C (p.Gly92Ala) c.242G>C (p.Gly81Ala) c.107G>C (p.Gly36Ala) n.209G>C n.74+448G>C | |
| 1 | g.159713559C>T | CA343453452 | CRP | c.641G>A (p.Gly214Asp) c.275G>A (p.Gly92Asp) c.242G>A (p.Gly81Asp) c.107G>A (p.Gly36Asp) n.209G>A n.74+448G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.159713560C>A | CA343453453 | CRP | c.640G>T (p.Gly214Cys) c.274G>T (p.Gly92Cys) c.241G>T (p.Gly81Cys) c.106G>T (p.Gly36Cys) n.208G>T n.74+447G>T | COSMIC |
| 1 | g.159713560C>G | CA343453454 | CRP | c.640G>C (p.Gly214Arg) c.274G>C (p.Gly92Arg) c.241G>C (p.Gly81Arg) c.106G>C (p.Gly36Arg) n.208G>C n.74+447G>C | |
| 1 | g.159713560C>T | CA343453455 | CRP | c.640G>A (p.Gly214Ser) c.274G>A (p.Gly92Ser) c.241G>A (p.Gly81Ser) c.106G>A (p.Gly36Ser) n.208G>A n.74+447G>A | gnomAD v4 |
| 1 | g.159713561T>A | CA343453456 | CRP | c.639A>T (p.Gln213His) c.273A>T (p.Gln91His) c.240A>T (p.Gln80His) c.105A>T (p.Gln35His) n.207A>T n.74+446A>T | |
| 1 | g.159713561T>C | CA421618178 | CRP | c.639A>G (p.Gln213=) c.273A>G (p.Gln91=) c.240A>G (p.Gln80=) c.105A>G (p.Gln35=) n.207A>G n.74+446A>G | |
| 1 | g.159713561T>G | CA343453457 | CRP | c.639A>C (p.Gln213His) c.273A>C (p.Gln91His) c.240A>C (p.Gln80His) c.105A>C (p.Gln35His) n.207A>C n.74+446A>C | |
| 1 | g.159713562T>A | CA343453458 | CRP | c.638A>T (p.Gln213Leu) c.272A>T (p.Gln91Leu) c.239A>T (p.Gln80Leu) c.104A>T (p.Gln35Leu) n.206A>T n.74+445A>T | |
| 1 | g.159713562T>C | CA343453459 | CRP | c.638A>G (p.Gln213Arg) c.272A>G (p.Gln91Arg) c.239A>G (p.Gln80Arg) c.104A>G (p.Gln35Arg) n.206A>G n.74+445A>G | |
| 1 | g.159713562T>G | CA343453460 | CRP | c.638A>C (p.Gln213Pro) c.272A>C (p.Gln91Pro) c.239A>C (p.Gln80Pro) c.104A>C (p.Gln35Pro) n.206A>C n.74+445A>C |