WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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_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.55154122C>A | CA407440449 | TNNI3 | c.457G>T (p.Ala153Ser) c.490G>T (p.Ala164Ser) n.456G>T n.465G>T c.382G>T (p.Ala128Ser) n.285G>T | |
| 19 | g.55154122C>G | CA407440451 | TNNI3 | c.457G>C (p.Ala153Pro) c.490G>C (p.Ala164Pro) n.456G>C n.465G>C c.382G>C (p.Ala128Pro) n.285G>C | |
| 19 | g.55154122C>T | CA407440452 | TNNI3 | c.457G>A (p.Ala153Thr) c.490G>A (p.Ala164Thr) n.456G>A n.465G>A c.382G>A (p.Ala128Thr) n.285G>A | |
| 19 | g.55154123A= | CA2343273766 | TNNI3 | c.456T= (p.Asp152=) c.489T= (p.Asp163=) n.455T= n.464T= c.381T= (p.Asp127=) n.284T= | |
| 19 | g.55154123A>C | CA407440454 | TNNI3 | c.456T>G (p.Asp152Glu) c.489T>G (p.Asp163Glu) n.455T>G n.464T>G c.381T>G (p.Asp127Glu) n.284T>G | |
| 19 | g.55154123A>G | CA508989425 | TNNI3 | c.456T>C (p.Asp152=) c.489T>C (p.Asp163=) n.455T>C n.464T>C c.381T>C (p.Asp127=) n.284T>C | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55154123A>T | CA407440455 | TNNI3 | c.456T>A (p.Asp152Glu) c.489T>A (p.Asp163Glu) n.455T>A n.464T>A c.381T>A (p.Asp127Glu) n.284T>A | |
| 19 | g.55154124T>A | CA407440457 | TNNI3 | c.455A>T (p.Asp152Val) c.488A>T (p.Asp163Val) n.454A>T n.463A>T c.380A>T (p.Asp127Val) n.283A>T | |
| 19 | g.55154124T>C | CA407440460 | TNNI3 | c.455A>G (p.Asp152Gly) c.488A>G (p.Asp163Gly) n.454A>G n.463A>G c.380A>G (p.Asp127Gly) n.283A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55154124T>G | CA407440458 | TNNI3 | c.455A>C (p.Asp152Ala) c.488A>C (p.Asp163Ala) n.454A>C n.463A>C c.380A>C (p.Asp127Ala) n.283A>C | |
| 19 | g.55154124T= | CA2343273767 | TNNI3 | c.455A= (p.Asp152=) c.488A= (p.Asp163=) n.454A= n.463A= c.380A= (p.Asp127=) n.283A= | |
| 19 | g.55154125C>A | CA407440462 | TNNI3 | c.454G>T (p.Asp152Tyr) c.487G>T (p.Asp163Tyr) n.453G>T n.462G>T c.379G>T (p.Asp127Tyr) n.282G>T | |
| 19 | g.55154125C>G | CA407440465 | TNNI3 | c.454G>C (p.Asp152His) c.487G>C (p.Asp163His) n.453G>C n.462G>C c.379G>C (p.Asp127His) n.282G>C | |
| 19 | g.55154125C>T | CA407440464 | TNNI3 | c.454G>A (p.Asp152Asn) c.487G>A (p.Asp163Asn) n.453G>A n.462G>A c.379G>A (p.Asp127Asn) n.282G>A | gnomAD v4 |
| 19 | g.55154126T>A | CA508989426 | TNNI3 | c.453A>T (p.Ala151=) c.486A>T (p.Ala162=) n.452A>T n.461A>T c.378A>T (p.Ala126=) n.281A>T | |
| 19 | g.55154126T>C | CA508989427 | TNNI3 | c.453A>G (p.Ala151=) c.486A>G (p.Ala162=) n.452A>G n.461A>G c.378A>G (p.Ala126=) n.281A>G | |
| 19 | g.55154126T>G | CA508989428 | TNNI3 | c.453A>C (p.Ala151=) c.486A>C (p.Ala162=) n.452A>C n.461A>C c.378A>C (p.Ala126=) n.281A>C | |
| 19 | g.55154127G>A | CA407440467 | TNNI3 | c.452C>T (p.Ala151Val) c.485C>T (p.Ala162Val) n.451C>T n.460C>T c.377C>T (p.Ala126Val) n.280C>T | gnomAD v4 |
| 19 | g.55154127G>C | CA407440469 | TNNI3 | c.452C>G (p.Ala151Gly) c.485C>G (p.Ala162Gly) n.451C>G n.460C>G c.377C>G (p.Ala126Gly) n.280C>G | |
| 19 | g.55154127G>T | CA407440470 | TNNI3 | c.452C>A (p.Ala151Glu) c.485C>A (p.Ala162Glu) n.451C>A n.460C>A c.377C>A (p.Ala126Glu) n.280C>A | gnomAD v4 |
| 19 | g.55154128C>A | CA407440472 | TNNI3 | c.451G>T (p.Ala151Ser) c.484G>T (p.Ala162Ser) n.450G>T n.459G>T c.376G>T (p.Ala126Ser) n.279G>T | |
| 19 | g.55154128C= | CA2343273768 | TNNI3 | c.451G= (p.Ala151=) c.484G= (p.Ala162=) n.450G= n.459G= c.376G= (p.Ala126=) n.279G= |