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.55151831G>A | CA913189009 | TNNI3 | c.*3C>T (n.*3C>T) n.635C>T n.464C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.55151831G= | CA2343272422 | TNNI3 | c.*3C= (n.*3C=) n.635C= n.464C= | |
| 19 | g.55151832G>A | CA2343272425 | TNNI3 | c.*2C>T (n.*2C>T) n.634C>T n.463C>T | dbSNP |
| 19 | g.55151832G= | CA2343272424 | TNNI3 | c.*2C= (n.*2C=) n.634C= n.463C= | |
| 19 | g.55151832G>T | CA2587243153 | TNNI3 | c.*2C>A (n.*2C>A) n.634C>A n.463C>A | gnomAD v4 |
| 19 | g.55151833C>A | CA2587243154 | TNNI3 | c.*1G>T (n.*1G>T) n.633G>T n.462G>T | gnomAD v4 |
| 19 | g.55151834T>A | CA407439350 | TNNI3 | c.633A>T (p.Ter211Cys) c.666A>T (p.Ter222Cys) n.632A>T c.558A>T (p.Ter186Cys) n.461A>T | |
| 19 | g.55151834T>C | CA407439353 | TNNI3 | c.633A>G (p.Ter211Trp) c.666A>G (p.Ter222Trp) n.632A>G c.558A>G (p.Ter186Trp) n.461A>G | |
| 19 | g.55151834T>G | CA407439356 | TNNI3 | c.633A>C (p.Ter211Cys) c.666A>C (p.Ter222Cys) n.632A>C c.558A>C (p.Ter186Cys) n.461A>C | |
| 19 | g.55151835C>A | CA022109 | TNNI3 | c.632G>T (p.Ter211Leu) c.665G>T (p.Ter222Leu) n.631G>T c.557G>T (p.Ter186Leu) n.460G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.55151835C= | CA2343272427 | TNNI3 | c.632G= (p.Ter211=) c.665G= (p.Ter222=) n.631G= c.557G= (p.Ter186=) n.460G= | |
| 19 | g.55151835C>G | CA407439363 | TNNI3 | c.632G>C (p.Ter211Ser) c.665G>C (p.Ter222Ser) n.631G>C c.557G>C (p.Ter186Ser) n.460G>C | |
| 19 | g.55151835C>T | CA508989323 | TNNI3 | c.632G>A (p.Ter211=) c.665G>A (p.Ter222=) n.631G>A c.557G>A (p.Ter186=) n.460G>A | gnomAD v4 |
| 19 | g.55151836A>C | CA407439366 | TNNI3 | c.631T>G (p.Ter211Gly) c.664T>G (p.Ter222Gly) n.630T>G c.556T>G (p.Ter186Gly) n.459T>G | |
| 19 | g.55151836A>G | CA407439368 | TNNI3 | c.631T>C (p.Ter211Arg) c.664T>C (p.Ter222Arg) n.630T>C c.556T>C (p.Ter186Arg) n.459T>C | |
| 19 | g.55151836A>T | CA407439370 | TNNI3 | c.631T>A (p.Ter211Arg) c.664T>A (p.Ter222Arg) n.630T>A c.556T>A (p.Ter186Arg) n.459T>A | |
| 19 | g.55151837G>A | CA508989324 | TNNI3 | c.630C>T (p.Ser210=) c.663C>T (p.Ser221=) n.629C>T c.555C>T (p.Ser185=) n.458C>T | |
| 19 | g.55151837G>C | CA407439372 | TNNI3 | c.630C>G (p.Ser210Arg) c.663C>G (p.Ser221Arg) n.629C>G c.555C>G (p.Ser185Arg) n.458C>G | |
| 19 | g.55151837G>T | CA407439373 | TNNI3 | c.630C>A (p.Ser210Arg) c.663C>A (p.Ser221Arg) n.629C>A c.555C>A (p.Ser185Arg) n.458C>A | |
| 19 | g.55151838C>A | CA407439381 | TNNI3 | c.629G>T (p.Ser210Ile) c.662G>T (p.Ser221Ile) n.628G>T c.554G>T (p.Ser185Ile) n.457G>T | |
| 19 | g.55151838C= | CA2343272428 | TNNI3 | c.629G= (p.Ser210=) c.662G= (p.Ser221=) n.628G= c.554G= (p.Ser185=) n.457G= | |
| 19 | g.55151838C>G | CA407439379 | TNNI3 | c.629G>C (p.Ser210Thr) c.662G>C (p.Ser221Thr) n.628G>C c.554G>C (p.Ser185Thr) n.457G>C | |
| 19 | g.55151838C>T | CA407439376 | TNNI3 | c.629G>A (p.Ser210Asn) c.662G>A (p.Ser221Asn) n.628G>A c.554G>A (p.Ser185Asn) n.457G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.55151839T>A | CA407439384 | TNNI3 | c.628A>T (p.Ser210Cys) c.661A>T (p.Ser221Cys) n.627A>T c.553A>T (p.Ser185Cys) n.456A>T | |
| 19 | g.55151839T>C | CA407439388 | TNNI3 | c.628A>G (p.Ser210Gly) c.661A>G (p.Ser221Gly) n.627A>G c.553A>G (p.Ser185Gly) n.456A>G | ClinVar dbSNP |
| 19 | g.55151839T>G | CA407439386 | TNNI3 | c.628A>C (p.Ser210Arg) c.661A>C (p.Ser221Arg) n.627A>C c.553A>C (p.Ser185Arg) n.456A>C | |
| 19 | g.55151839T= | CA2343272429 | TNNI3 | c.628A= (p.Ser210=) c.661A= (p.Ser221=) n.627A= c.553A= (p.Ser185=) n.456A= | |
| 19 | g.55151840C>A | CA407439391 | TNNI3 | c.627G>T (p.Glu209Asp) c.660G>T (p.Glu220Asp) n.626G>T c.552G>T (p.Glu184Asp) n.455G>T | |
| 19 | g.55151840C= | CA2343272431 | TNNI3 | c.627G= (p.Glu209=) c.660G= (p.Glu220=) n.626G= c.552G= (p.Glu184=) n.455G= | |
| 19 | g.55151840C>G | CA407439393 | TNNI3 | c.627G>C (p.Glu209Asp) c.660G>C (p.Glu220Asp) n.626G>C c.552G>C (p.Glu184Asp) n.455G>C | ClinVar dbSNP |
| 19 | g.55151840C>T | CA508989325 | TNNI3 | c.627G>A (p.Glu209=) c.660G>A (p.Glu220=) n.626G>A c.552G>A (p.Glu184=) n.455G>A | gnomAD v4 |
| 19 | g.55151841T>A | CA407439397 | TNNI3 | c.626A>T (p.Glu209Val) c.659A>T (p.Glu220Val) n.625A>T c.551A>T (p.Glu184Val) n.454A>T | |
| 19 | g.55151841T>C | CA407439399 | TNNI3 | c.626A>G (p.Glu209Gly) c.659A>G (p.Glu220Gly) n.625A>G c.551A>G (p.Glu184Gly) n.454A>G | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.55151841T>G | CA022103 | TNNI3 | c.626A>C (p.Glu209Ala) c.659A>C (p.Glu220Ala) n.625A>C c.551A>C (p.Glu184Ala) n.454A>C | ClinVar dbSNP |
| 19 | g.55151841T= | CA2343272433 | TNNI3 | c.626A= (p.Glu209=) c.659A= (p.Glu220=) n.625A= c.551A= (p.Glu184=) n.454A= | |
| 19 | g.55151842C>A | CA407439402 | TNNI3 | c.625G>T (p.Glu209Ter) c.658G>T (p.Glu220Ter) n.624G>T c.550G>T (p.Glu184Ter) n.453G>T | gnomAD v4 |
| 19 | g.55151842C= | CA2343272437 | TNNI3 | c.625G= (p.Glu209=) c.658G= (p.Glu220=) n.624G= c.550G= (p.Glu184=) n.453G= | |
| 19 | g.55151842C>G | CA407439405 | TNNI3 | c.625G>C (p.Glu209Gln) c.658G>C (p.Glu220Gln) n.624G>C c.550G>C (p.Glu184Gln) n.453G>C | |
| 19 | g.55151842C>T | CA022097 | TNNI3 | c.625G>A (p.Glu209Lys) c.658G>A (p.Glu220Lys) n.624G>A c.550G>A (p.Glu184Lys) n.453G>A | ClinVar dbSNP COSMIC |
| 19 | g.55151843A= | CA2343272443 | TNNI3 | c.624T= (p.Phe208=) c.657T= (p.Phe219=) n.623T= c.549T= (p.Phe183=) n.452T= | |
| 19 | g.55151843A>C | CA10577112 | TNNI3 | c.624T>G (p.Phe208Leu) c.657T>G (p.Phe219Leu) n.623T>G c.549T>G (p.Phe183Leu) n.452T>G | ClinVar dbSNP |
| 19 | g.55151843A>G | CA508989326 | TNNI3 | c.624T>C (p.Phe208=) c.657T>C (p.Phe219=) n.623T>C c.549T>C (p.Phe183=) n.452T>C | |
| 19 | g.55151843A>T | CA407439408 | TNNI3 | c.624T>A (p.Phe208Leu) c.657T>A (p.Phe219Leu) n.623T>A c.549T>A (p.Phe183Leu) n.452T>A | |
| 19 | g.55151845dup | CA915953048 | TNNI3 | c.624dup (p.Glu209Ter) c.657dup (p.Glu220Ter) n.623dup c.549dup (p.Glu184Ter) n.452dup | ClinVar dbSNP |
| 19 | g.55151844A>C | CA407439411 | TNNI3 | c.623T>G (p.Phe208Cys) c.656T>G (p.Phe219Cys) n.622T>G c.548T>G (p.Phe183Cys) n.451T>G | |
| 19 | g.55151844A>G | CA407439414 | TNNI3 | c.623T>C (p.Phe208Ser) c.656T>C (p.Phe219Ser) n.622T>C c.548T>C (p.Phe183Ser) n.451T>C | |
| 19 | g.55151844A>T | CA407439416 | TNNI3 | c.623T>A (p.Phe208Tyr) c.656T>A (p.Phe219Tyr) n.622T>A c.548T>A (p.Phe183Tyr) n.451T>A | |
| 19 | g.55151845A= | CA2343272444 | TNNI3 | c.622T= (p.Phe208=) c.655T= (p.Phe219=) n.621T= c.547T= (p.Phe183=) n.450T= | |
| 19 | g.55151845A>C | CA407439418 | TNNI3 | c.622T>G (p.Phe208Val) c.655T>G (p.Phe219Val) n.621T>G c.547T>G (p.Phe183Val) n.450T>G | |
| 19 | g.55151845A>G | CA407439420 | TNNI3 | c.622T>C (p.Phe208Leu) c.655T>C (p.Phe219Leu) n.621T>C c.547T>C (p.Phe183Leu) n.450T>C |