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.229432280_229432289del | CA2698260228 | ACTA1 | c.597_606del (p.Tyr200Ter) c.462_471del (p.Tyr155Ter) c.479+118_479+127del (n.479+118_479+127del) | dbSNP |
| 1 | g.229432284G>A | CA345147829 | ACTA1 | c.602C>T (p.Ser201Phe) c.467C>T (p.Ser156Phe) c.479+123C>T (n.479+123C>T) | |
| 1 | g.229432284G>C | CA345147830 | ACTA1 | c.602C>G (p.Ser201Cys) c.467C>G (p.Ser156Cys) c.479+123C>G (n.479+123C>G) | |
| 1 | g.229432284G>T | CA345147833 | ACTA1 | c.602C>A (p.Ser201Tyr) c.467C>A (p.Ser156Tyr) c.479+123C>A (n.479+123C>A) | |
| 1 | g.229432285A>C | CA345147849 | ACTA1 | c.601T>G (p.Ser201Ala) c.466T>G (p.Ser156Ala) c.479+122T>G (n.479+122T>G) | |
| 1 | g.229432285A>G | CA345147853 | ACTA1 | c.601T>C (p.Ser201Pro) c.466T>C (p.Ser156Pro) c.479+122T>C (n.479+122T>C) | |
| 1 | g.229432285A>T | CA345147846 | ACTA1 | c.601T>A (p.Ser201Thr) c.466T>A (p.Ser156Thr) c.479+122T>A (n.479+122T>A) | |
| 1 | g.229432286G>A | CA423755337 | ACTA1 | c.600C>T (p.Tyr200=) c.465C>T (p.Tyr155=) c.479+121C>T (n.479+121C>T) | |
| 1 | g.229432286G>C | CA345147857 | ACTA1 | c.600C>G (p.Tyr200Ter) c.465C>G (p.Tyr155Ter) c.479+121C>G (n.479+121C>G) | |
| 1 | g.229432286G>T | CA345147863 | ACTA1 | c.600C>A (p.Tyr200Ter) c.465C>A (p.Tyr155Ter) c.479+121C>A (n.479+121C>A) | |
| 1 | g.229432287T>A | CA345147864 | ACTA1 | c.599A>T (p.Tyr200Phe) c.464A>T (p.Tyr155Phe) c.479+120A>T (n.479+120A>T) | |
| 1 | g.229432287T>C | CA345147865 | ACTA1 | c.599A>G (p.Tyr200Cys) c.464A>G (p.Tyr155Cys) c.479+120A>G (n.479+120A>G) | ClinVar dbSNP |
| 1 | g.229432287T>G | CA345147867 | ACTA1 | c.599A>C (p.Tyr200Ser) c.464A>C (p.Tyr155Ser) c.479+120A>C (n.479+120A>C) | |
| 1 | g.229432288A= | CA1226125725 | ACTA1 | c.598T= (p.Tyr200=) c.463T= (p.Tyr155=) c.479+119T= (n.479+119T=) | |
| 1 | g.229432288A>C | CA345147869 | ACTA1 | c.598T>G (p.Tyr200Asp) c.463T>G (p.Tyr155Asp) c.479+119T>G (n.479+119T>G) | |
| 1 | g.229432288A>G | CA345147877 | ACTA1 | c.598T>C (p.Tyr200His) c.463T>C (p.Tyr155His) c.479+119T>C (n.479+119T>C) | |
| 1 | g.229432288A>T | CA345147880 | ACTA1 | c.598T>A (p.Tyr200Asn) c.463T>A (p.Tyr155Asn) c.479+119T>A (n.479+119T>A) | ClinVar dbSNP |
| 1 | g.229432289G>A | CA423755344 | ACTA1 | c.597C>T (p.Gly199=) c.462C>T (p.Gly154=) c.479+118C>T (n.479+118C>T) | |
| 1 | g.229432289G>C | CA423755347 | ACTA1 | c.597C>G (p.Gly199=) c.462C>G (p.Gly154=) c.479+118C>G (n.479+118C>G) | |
| 1 | g.229432289G= | CA1226125726 | ACTA1 | c.597C= (p.Gly199=) c.462C= (p.Gly154=) c.479+118C= (n.479+118C=) | |
| 1 | g.229432289G>T | CA423755345 | ACTA1 | c.597C>A (p.Gly199=) c.462C>A (p.Gly154=) c.479+118C>A (n.479+118C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432290C>A | CA345147881 | ACTA1 | c.596G>T (p.Gly199Val) c.461G>T (p.Gly154Val) c.479+117G>T (n.479+117G>T) | |
| 1 | g.229432290C>G | CA345147882 | ACTA1 | c.596G>C (p.Gly199Ala) c.461G>C (p.Gly154Ala) c.479+117G>C (n.479+117G>C) | |
| 1 | g.229432290C>T | CA345147885 | ACTA1 | c.596G>A (p.Gly199Asp) c.461G>A (p.Gly154Asp) c.479+117G>A (n.479+117G>A) | |
| 1 | g.229432291C>A | CA345147889 | ACTA1 | c.595G>T (p.Gly199Cys) c.460G>T (p.Gly154Cys) c.479+116G>T (n.479+116G>T) | |
| 1 | g.229432291C>G | CA345147892 | ACTA1 | c.595G>C (p.Gly199Arg) c.460G>C (p.Gly154Arg) c.479+116G>C (n.479+116G>C) | |
| 1 | g.229432291C>T | CA345147893 | ACTA1 | c.595G>A (p.Gly199Ser) c.460G>A (p.Gly154Ser) c.479+116G>A (n.479+116G>A) | |
| 1 | g.229432292A= | CA1226125727 | ACTA1 | c.594T= (p.Arg198=) c.459T= (p.Arg153=) c.479+115T= (n.479+115T=) | |
| 1 | g.229432292A>C | CA423755351 | ACTA1 | c.594T>G (p.Arg198=) c.459T>G (p.Arg153=) c.479+115T>G (n.479+115T>G) | |
| 1 | g.229432292A>G | CA423755352 | ACTA1 | c.594T>C (p.Arg198=) c.459T>C (p.Arg153=) c.479+115T>C (n.479+115T>C) | |
| 1 | g.229432292A>T | CA423755353 | ACTA1 | c.594T>A (p.Arg198=) c.459T>A (p.Arg153=) c.479+115T>A (n.479+115T>A) | dbSNP |
| 1 | g.229432293C>A | CA345147899 | ACTA1 | c.593G>T (p.Arg198Leu) c.458G>T (p.Arg153Leu) c.479+114G>T (n.479+114G>T) | |
| 1 | g.229432293C>G | CA345147894 | ACTA1 | c.593G>C (p.Arg198Pro) c.458G>C (p.Arg153Pro) c.479+114G>C (n.479+114G>C) | |
| 1 | g.229432293C>T | CA345147895 | ACTA1 | c.593G>A (p.Arg198His) c.458G>A (p.Arg153His) c.479+114G>A (n.479+114G>A) | ClinVar |
| 1 | g.229432294G>A | CA345147910 | ACTA1 | c.592C>T (p.Arg198Cys) c.457C>T (p.Arg153Cys) c.479+113C>T (n.479+113C>T) | ClinVar dbSNP COSMIC |
| 1 | g.229432294G>C | CA345147914 | ACTA1 | c.592C>G (p.Arg198Gly) c.457C>G (p.Arg153Gly) c.479+113C>G (n.479+113C>G) | |
| 1 | g.229432294G= | CA1226125728 | ACTA1 | c.592C= (p.Arg198=) c.457C= (p.Arg153=) c.479+113C= (n.479+113C=) | |
| 1 | g.229432294G>T | CA345147924 | ACTA1 | c.592C>A (p.Arg198Ser) c.457C>A (p.Arg153Ser) c.479+113C>A (n.479+113C>A) | dbSNP |
| 1 | g.229432295C>A | CA353465 | ACTA1 | c.591G>T (p.Glu197Asp) c.456G>T (p.Glu152Asp) c.479+112G>T (n.479+112G>T) | ClinVar dbSNP |
| 1 | g.229432295C= | CA1226125729 | ACTA1 | c.591G= (p.Glu197=) c.456G= (p.Glu152=) c.479+112G= (n.479+112G=) | |
| 1 | g.229432295C>G | CA345147944 | ACTA1 | c.591G>C (p.Glu197Asp) c.456G>C (p.Glu152Asp) c.479+112G>C (n.479+112G>C) | ClinVar dbSNP |
| 1 | g.229432295C>T | CA423755361 | ACTA1 | c.591G>A (p.Glu197=) c.456G>A (p.Glu152=) c.479+112G>A (n.479+112G>A) | gnomAD v4 |
| 1 | g.229432296T>A | CA345147950 | ACTA1 | c.590A>T (p.Glu197Val) c.455A>T (p.Glu152Val) c.479+111A>T (n.479+111A>T) | |
| 1 | g.229432296T>C | CA345147954 | ACTA1 | c.590A>G (p.Glu197Gly) c.455A>G (p.Glu152Gly) c.479+111A>G (n.479+111A>G) | |
| 1 | g.229432296T>G | CA345147971 | ACTA1 | c.590A>C (p.Glu197Ala) c.455A>C (p.Glu152Ala) c.479+111A>C (n.479+111A>C) | |
| 1 | g.229432296_229432305delinsTCAGTGAGGA | CA1226125730 | ACTA1 | c.581_590delinsTCCTCACTGA (p.Ile194=) c.446_455delinsTCCTCACTGA (p.Ile149=) c.479+102_479+111delinsTCCTCACTGA (n.479+102_479+111delinsTCCTCACTGA) | |
| 1 | g.229432297C>A | CA345147984 | ACTA1 | c.589G>T (p.Glu197Ter) c.454G>T (p.Glu152Ter) c.479+110G>T (n.479+110G>T) | |
| 1 | g.229432297C>G | CA345147987 | ACTA1 | c.589G>C (p.Glu197Gln) c.454G>C (p.Glu152Gln) c.479+110G>C (n.479+110G>C) | |
| 1 | g.229432297C>T | CA345147989 | ACTA1 | c.589G>A (p.Glu197Lys) c.454G>A (p.Glu152Lys) c.479+110G>A (n.479+110G>A) | |
| 1 | g.229432297_229432305del | CA915940831 | ACTA1 | c.581_589del (p.Ile194_Glu197delinsLys) c.446_454del (p.Ile149_Glu152delinsLys) c.479+102_479+110del (n.479+102_479+110del) | ClinVar dbSNP |