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 |
|---|---|---|---|---|---|
| 19 | g.55154109G>A | CA021720 | TNNI3 | c.470C>T (p.Ala157Val) c.503C>T (p.Ala168Val) n.469C>T c.395C>T (p.Ala132Val) n.298C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.55154109G>C | CA407440399 | TNNI3 | c.470C>G (p.Ala157Gly) c.503C>G (p.Ala168Gly) n.469C>G c.395C>G (p.Ala132Gly) n.298C>G | |
| 19 | g.55154109G= | CA2343273760 | TNNI3 | c.470C= (p.Ala157=) c.503C= (p.Ala168=) n.469C= c.395C= (p.Ala132=) n.298C= | |
| 19 | g.55154109G>T | CA407440401 | TNNI3 | c.470C>A (p.Ala157Glu) c.503C>A (p.Ala168Glu) n.469C>A c.395C>A (p.Ala132Glu) n.298C>A | |
| 19 | g.55154110C>A | CA407440403 | TNNI3 | c.469G>T (p.Ala157Ser) c.502G>T (p.Ala168Ser) n.468G>T n.477G>T c.394G>T (p.Ala132Ser) n.297G>T | |
| 19 | g.55154110C>G | CA407440404 | TNNI3 | c.469G>C (p.Ala157Pro) c.502G>C (p.Ala168Pro) n.468G>C n.477G>C c.394G>C (p.Ala132Pro) n.297G>C | |
| 19 | g.55154110C>T | CA407440406 | TNNI3 | c.469G>A (p.Ala157Thr) c.502G>A (p.Ala168Thr) n.468G>A n.477G>A c.394G>A (p.Ala132Thr) n.297G>A | |
| 19 | g.55154111C>A | CA407440408 | TNNI3 | c.468G>T (p.Gln156His) c.501G>T (p.Gln167His) n.467G>T n.476G>T c.393G>T (p.Gln131His) n.296G>T | COSMIC |
| 19 | g.55154111C>G | CA407440409 | TNNI3 | c.468G>C (p.Gln156His) c.501G>C (p.Gln167His) n.467G>C n.476G>C c.393G>C (p.Gln131His) n.296G>C | |
| 19 | g.55154111C>T | CA508989421 | TNNI3 | c.468G>A (p.Gln156=) c.501G>A (p.Gln167=) n.467G>A n.476G>A c.393G>A (p.Gln131=) n.296G>A | |
| 19 | g.55154112T>A | CA407440411 | TNNI3 | c.467A>T (p.Gln156Leu) c.500A>T (p.Gln167Leu) n.466A>T n.475A>T c.392A>T (p.Gln131Leu) n.295A>T | |
| 19 | g.55154112T>C | CA407440412 | TNNI3 | c.467A>G (p.Gln156Arg) c.500A>G (p.Gln167Arg) n.466A>G n.475A>G c.392A>G (p.Gln131Arg) n.295A>G | |
| 19 | g.55154112T>G | CA407440414 | TNNI3 | c.467A>C (p.Gln156Pro) c.500A>C (p.Gln167Pro) n.466A>C n.475A>C c.392A>C (p.Gln131Pro) n.295A>C | |
| 19 | g.55154113G>A | CA407440417 | TNNI3 | c.466C>T (p.Gln156Ter) c.499C>T (p.Gln167Ter) n.465C>T n.474C>T c.391C>T (p.Gln131Ter) n.294C>T | dbSNP |
| 19 | g.55154113G>C | CA407440419 | TNNI3 | c.466C>G (p.Gln156Glu) c.499C>G (p.Gln167Glu) n.465C>G n.474C>G c.391C>G (p.Gln131Glu) n.294C>G | ClinVar dbSNP |
| 19 | g.55154113G= | CA2343273761 | TNNI3 | c.466C= (p.Gln156=) c.499C= (p.Gln167=) n.465C= n.474C= c.391C= (p.Gln131=) n.294C= | |
| 19 | g.55154113G>T | CA407440416 | TNNI3 | c.466C>A (p.Gln156Lys) c.499C>A (p.Gln167Lys) n.465C>A n.474C>A c.391C>A (p.Gln131Lys) n.294C>A | |
| 19 | g.55154114C>A | CA407440421 | TNNI3 | c.465G>T (p.Met155Ile) c.498G>T (p.Met166Ile) n.464G>T n.473G>T c.390G>T (p.Met130Ile) n.293G>T | |
| 19 | g.55154114C>G | CA407440422 | TNNI3 | c.465G>C (p.Met155Ile) c.498G>C (p.Met166Ile) n.464G>C n.473G>C c.390G>C (p.Met130Ile) n.293G>C | |
| 19 | g.55154114C>T | CA407440424 | TNNI3 | c.465G>A (p.Met155Ile) c.498G>A (p.Met166Ile) n.464G>A n.473G>A c.390G>A (p.Met130Ile) n.293G>A | gnomAD v4 |
| 19 | g.55154115A= | CA2343273762 | TNNI3 | c.464T= (p.Met155=) c.497T= (p.Met166=) n.463T= n.472T= c.389T= (p.Met130=) n.292T= | |
| 19 | g.55154115A>C | CA407440425 | TNNI3 | c.464T>G (p.Met155Arg) c.497T>G (p.Met166Arg) n.463T>G n.472T>G c.389T>G (p.Met130Arg) n.292T>G | |
| 19 | g.55154115A>G | CA021714 | TNNI3 | c.464T>C (p.Met155Thr) c.497T>C (p.Met166Thr) n.463T>C n.472T>C c.389T>C (p.Met130Thr) n.292T>C | ClinVar dbSNP |
| 19 | g.55154115A>T | CA407440427 | TNNI3 | c.464T>A (p.Met155Lys) c.497T>A (p.Met166Lys) n.463T>A n.472T>A c.389T>A (p.Met130Lys) n.292T>A | |
| 19 | g.55154116T>A | CA407440428 | TNNI3 | c.463A>T (p.Met155Leu) c.496A>T (p.Met166Leu) n.462A>T n.471A>T c.388A>T (p.Met130Leu) n.291A>T | |
| 19 | g.55154116T>C | CA021709 | TNNI3 | c.463A>G (p.Met155Val) c.496A>G (p.Met166Val) n.462A>G n.471A>G c.388A>G (p.Met130Val) n.291A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.55154116T>G | CA407440430 | TNNI3 | c.463A>C (p.Met155Leu) c.496A>C (p.Met166Leu) n.462A>C n.471A>C c.388A>C (p.Met130Leu) n.291A>C | |
| 19 | g.55154116T= | CA2343273763 | TNNI3 | c.463A= (p.Met155=) c.496A= (p.Met166=) n.462A= n.471A= c.388A= (p.Met130=) n.291A= | |
| 19 | g.55154117C>A | CA407440432 | TNNI3 | c.462G>T (p.Met154Ile) c.495G>T (p.Met165Ile) n.461G>T n.470G>T c.387G>T (p.Met129Ile) n.290G>T | |
| 19 | g.55154117C= | CA2343273764 | TNNI3 | c.462G= (p.Met154=) c.495G= (p.Met165=) n.461G= n.470G= c.387G= (p.Met129=) n.290G= | |
| 19 | g.55154117C>G | CA407440433 | TNNI3 | c.462G>C (p.Met154Ile) c.495G>C (p.Met165Ile) n.461G>C n.470G>C c.387G>C (p.Met129Ile) n.290G>C | |
| 19 | g.55154117C>T | CA021703 | TNNI3 | c.462G>A (p.Met154Ile) c.495G>A (p.Met165Ile) n.461G>A n.470G>A c.387G>A (p.Met129Ile) n.290G>A | ClinVar dbSNP |
| 19 | g.55154118A>C | CA407440439 | TNNI3 | c.461T>G (p.Met154Arg) c.494T>G (p.Met165Arg) n.460T>G n.469T>G c.386T>G (p.Met129Arg) n.289T>G | |
| 19 | g.55154118A>G | CA407440436 | TNNI3 | c.461T>C (p.Met154Thr) c.494T>C (p.Met165Thr) n.460T>C n.469T>C c.386T>C (p.Met129Thr) n.289T>C | |
| 19 | g.55154118A>T | CA407440437 | TNNI3 | c.461T>A (p.Met154Lys) c.494T>A (p.Met165Lys) n.460T>A n.469T>A c.386T>A (p.Met129Lys) n.289T>A | |
| 19 | g.55154119T>A | CA407440440 | TNNI3 | c.460A>T (p.Met154Leu) c.493A>T (p.Met165Leu) n.459A>T n.468A>T c.385A>T (p.Met129Leu) n.288A>T | |
| 19 | g.55154119T>C | CA407440442 | TNNI3 | c.460A>G (p.Met154Val) c.493A>G (p.Met165Val) n.459A>G n.468A>G c.385A>G (p.Met129Val) n.288A>G | |
| 19 | g.55154119T>G | CA407440444 | TNNI3 | c.460A>C (p.Met154Leu) c.493A>C (p.Met165Leu) n.459A>C n.468A>C c.385A>C (p.Met129Leu) n.288A>C | |
| 19 | g.55154119_55154120insCGGCACACCGGCGGTACCGGCGGGCTCACCATCATCGGAGGAACGCTGAATATCGCGGTCAGCACCAATAATGAACGCCGAACACACGTGGCG | CA2814881312 | TNNI3 | c.459_460insCGCCACGTGTGTTCGGCGTTCATTATTGGTGCTGACCGCGATATTCAGCGTTCCTCCGATGATGGTGAGCCCGCCGGTACCGCCGGTGTGCCG (p.Ala153_Met154insArgHisValCysSerAlaPheIleIleGlyAlaAspArgAspIleGlnArgSerSerAspAspGlyGluProAlaGlyThrAlaGlyValPro) c.492_493insCGCCACGTGTGTTCGGCGTTCATTATTGGTGCTGACCGCGATATTCAGCGTTCCTCCGATGATGGTGAGCCCGCCGGTACCGCCGGTGTGCCG (p.Ala164_Met165insArgHisValCysSerAlaPheIleIleGlyAlaAspArgAspIleGlnArgSerSerAspAspGlyGluProAlaGlyThrAlaGlyValPro) n.458_459insCGCCACGTGTGTTCGGCGTTCATTATTGGTGCTGACCGCGATATTCAGCGTTCCTCCGATGATGGTGAGCCCGCCGGTACCGCCGGTGTGCCG n.467_468insCGCCACGTGTGTTCGGCGTTCATTATTGGTGCTGACCGCGATATTCAGCGTTCCTCCGATGATGGTGAGCCCGCCGGTACCGCCGGTGTGCCG c.384_385insCGCCACGTGTGTTCGGCGTTCATTATTGGTGCTGACCGCGATATTCAGCGTTCCTCCGATGATGGTGAGCCCGCCGGTACCGCCGGTGTGCCG (p.Ala128_Met129insArgHisValCysSerAlaPheIleIleGlyAlaAspArgAspIleGlnArgSerSerAspAspGlyGluProAlaGlyThrAlaGlyValPro) n.287_288insCGCCACGTGTGTTCGGCGTTCATTATTGGTGCTGACCGCGATATTCAGCGTTCCTCCGATGATGGTGAGCCCGCCGGTACCGCCGGTGTGCCG | |
| 19 | g.55154119_55154120insCGGCACACCGGCGGTACCGGCGGGCTCACCGTCATCGGAGGAACGCTGAATATCGCGGTCGGCACCAATAATGAATGCCGAACACACGTGGCGGGCGTCGTGGTAGGTCTTGCGCACCGACTCAATGTA | CA2540410352 | TNNI3 | c.459_460insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGTTCGGCATTCATTATTGGTGCCGACCGCGATATTCAGCGTTCCTCCGATGACGGTGAGCCCGCCGGTACCGCCGGTGTGCCG (p.Ala153_Met154insTyrIleGluSerValArgLysThrTyrHisAspAlaArgHisValCysSerAlaPheIleIleGlyAlaAspArgAspIleGlnArgSerSerAspAspGlyGluProAlaGlyThrAlaGlyValPro) c.492_493insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGTTCGGCATTCATTATTGGTGCCGACCGCGATATTCAGCGTTCCTCCGATGACGGTGAGCCCGCCGGTACCGCCGGTGTGCCG (p.Ala164_Met165insTyrIleGluSerValArgLysThrTyrHisAspAlaArgHisValCysSerAlaPheIleIleGlyAlaAspArgAspIleGlnArgSerSerAspAspGlyGluProAlaGlyThrAlaGlyValPro) n.458_459insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGTTCGGCATTCATTATTGGTGCCGACCGCGATATTCAGCGTTCCTCCGATGACGGTGAGCCCGCCGGTACCGCCGGTGTGCCG n.467_468insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGTTCGGCATTCATTATTGGTGCCGACCGCGATATTCAGCGTTCCTCCGATGACGGTGAGCCCGCCGGTACCGCCGGTGTGCCG c.384_385insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGTTCGGCATTCATTATTGGTGCCGACCGCGATATTCAGCGTTCCTCCGATGACGGTGAGCCCGCCGGTACCGCCGGTGTGCCG (p.Ala128_Met129insTyrIleGluSerValArgLysThrTyrHisAspAlaArgHisValCysSerAlaPheIleIleGlyAlaAspArgAspIleGlnArgSerSerAspAspGlyGluProAlaGlyThrAlaGlyValPro) n.287_288insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGTTCGGCATTCATTATTGGTGCCGACCGCGATATTCAGCGTTCCTCCGATGACGGTGAGCCCGCCGGTACCGCCGGTGTGCCG | |
| 19 | g.55154119_55154120insCGGTACACCGGCGGTACCGGCGGGCTCACCGTCATCGGAGGAACGCTGAATATCGCGGTCGGCGCCAATAATGAACGCCGAGCACACGTGGCGGGCGTCGTGGTAGGTCTTGCGCACCGACTCAATGTA | CA2507690890 | TNNI3 | c.459_460insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCATTATTGGCGCCGACCGCGATATTCAGCGTTCCTCCGATGACGGTGAGCCCGCCGGTACCGCCGGTGTACCG (p.Ala153_Met154insTyrIleGluSerValArgLysThrTyrHisAspAlaArgHisValCysSerAlaPheIleIleGlyAlaAspArgAspIleGlnArgSerSerAspAspGlyGluProAlaGlyThrAlaGlyValPro) c.492_493insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCATTATTGGCGCCGACCGCGATATTCAGCGTTCCTCCGATGACGGTGAGCCCGCCGGTACCGCCGGTGTACCG (p.Ala164_Met165insTyrIleGluSerValArgLysThrTyrHisAspAlaArgHisValCysSerAlaPheIleIleGlyAlaAspArgAspIleGlnArgSerSerAspAspGlyGluProAlaGlyThrAlaGlyValPro) n.458_459insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCATTATTGGCGCCGACCGCGATATTCAGCGTTCCTCCGATGACGGTGAGCCCGCCGGTACCGCCGGTGTACCG n.467_468insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCATTATTGGCGCCGACCGCGATATTCAGCGTTCCTCCGATGACGGTGAGCCCGCCGGTACCGCCGGTGTACCG c.384_385insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCATTATTGGCGCCGACCGCGATATTCAGCGTTCCTCCGATGACGGTGAGCCCGCCGGTACCGCCGGTGTACCG (p.Ala128_Met129insTyrIleGluSerValArgLysThrTyrHisAspAlaArgHisValCysSerAlaPheIleIleGlyAlaAspArgAspIleGlnArgSerSerAspAspGlyGluProAlaGlyThrAlaGlyValPro) n.287_288insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCATTATTGGCGCCGACCGCGATATTCAGCGTTCCTCCGATGACGGTGAGCCCGCCGGTACCGCCGGTGTACCG | |
| 19 | g.55154119_55154120insCGGCACACCGGCGGTACCGGCGGGCTCGCCGTCATCCGAGGAACGCTGCACGTCGCGGTCGGCACCAATCACGAACGCCGAGCACACGTGGCGGGCGTCGTGGTAGGTCTTGCGCACCGACTCAATGTA | CA2539885688 | TNNI3 | c.459_460insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCGTGATTGGTGCCGACCGCGACGTGCAGCGTTCCTCGGATGACGGCGAGCCCGCCGGTACCGCCGGTGTGCCG (p.Ala153_Met154insTyrIleGluSerValArgLysThrTyrHisAspAlaArgHisValCysSerAlaPheValIleGlyAlaAspArgAspValGlnArgSerSerAspAspGlyGluProAlaGlyThrAlaGlyValPro) c.492_493insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCGTGATTGGTGCCGACCGCGACGTGCAGCGTTCCTCGGATGACGGCGAGCCCGCCGGTACCGCCGGTGTGCCG (p.Ala164_Met165insTyrIleGluSerValArgLysThrTyrHisAspAlaArgHisValCysSerAlaPheValIleGlyAlaAspArgAspValGlnArgSerSerAspAspGlyGluProAlaGlyThrAlaGlyValPro) n.458_459insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCGTGATTGGTGCCGACCGCGACGTGCAGCGTTCCTCGGATGACGGCGAGCCCGCCGGTACCGCCGGTGTGCCG n.467_468insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCGTGATTGGTGCCGACCGCGACGTGCAGCGTTCCTCGGATGACGGCGAGCCCGCCGGTACCGCCGGTGTGCCG c.384_385insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCGTGATTGGTGCCGACCGCGACGTGCAGCGTTCCTCGGATGACGGCGAGCCCGCCGGTACCGCCGGTGTGCCG (p.Ala128_Met129insTyrIleGluSerValArgLysThrTyrHisAspAlaArgHisValCysSerAlaPheValIleGlyAlaAspArgAspValGlnArgSerSerAspAspGlyGluProAlaGlyThrAlaGlyValPro) n.287_288insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCGTGATTGGTGCCGACCGCGACGTGCAGCGTTCCTCGGATGACGGCGAGCCCGCCGGTACCGCCGGTGTGCCG | |
| 19 | g.55154120G>A | CA508989422 | TNNI3 | c.459C>T (p.Ala153=) c.492C>T (p.Ala164=) n.458C>T n.467C>T c.384C>T (p.Ala128=) n.287C>T | |
| 19 | g.55154120G>C | CA508989423 | TNNI3 | c.459C>G (p.Ala153=) c.492C>G (p.Ala164=) n.458C>G n.467C>G c.384C>G (p.Ala128=) n.287C>G | |
| 19 | g.55154120G>T | CA508989424 | TNNI3 | c.459C>A (p.Ala153=) c.492C>A (p.Ala164=) n.458C>A n.467C>A c.384C>A (p.Ala128=) n.287C>A | gnomAD v4 |
| 19 | g.55154121G>A | CA407440446 | TNNI3 | c.458C>T (p.Ala153Val) c.491C>T (p.Ala164Val) n.457C>T n.466C>T c.383C>T (p.Ala128Val) n.286C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.55154121G>C | CA407440447 | TNNI3 | c.458C>G (p.Ala153Gly) c.491C>G (p.Ala164Gly) n.457C>G n.466C>G c.383C>G (p.Ala128Gly) n.286C>G | |
| 19 | g.55154121G= | CA2343273765 | TNNI3 | c.458C= (p.Ala153=) c.491C= (p.Ala164=) n.457C= n.466C= c.383C= (p.Ala128=) n.286C= | |
| 19 | g.55154121G>T | CA021698 | TNNI3 | c.458C>A (p.Ala153Asp) c.491C>A (p.Ala164Asp) n.457C>A n.466C>A c.383C>A (p.Ala128Asp) n.286C>A | ClinVar dbSNP |
| 19 | g.55154121_55154122insGCACACCCGCGGTACCGGCGGGCTCGCCGT | CA2814881314 | TNNI3 | c.457_458insACGGCGAGCCCGCCGGTACCGCGGGTGTGC (p.Ala153delinsAspGlyGluProAlaGlyThrAlaGlyValPro) c.490_491insACGGCGAGCCCGCCGGTACCGCGGGTGTGC (p.Ala164delinsAspGlyGluProAlaGlyThrAlaGlyValPro) n.456_457insACGGCGAGCCCGCCGGTACCGCGGGTGTGC n.465_466insACGGCGAGCCCGCCGGTACCGCGGGTGTGC c.382_383insACGGCGAGCCCGCCGGTACCGCGGGTGTGC (p.Ala128delinsAspGlyGluProAlaGlyThrAlaGlyValPro) n.285_286insACGGCGAGCCCGCCGGTACCGCGGGTGTGC |