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.229431536T>A | CA345144256 | ACTA1 | c.1019A>T (p.Glu340Val) c.962A>T (p.Glu321Val) c.728A>T (p.Glu243Val) c.1097A>T (p.Glu366Val) | |
| 1 | g.229431536T>C | CA345144260 | ACTA1 | c.1019A>G (p.Glu340Gly) c.962A>G (p.Glu321Gly) c.728A>G (p.Glu243Gly) c.1097A>G (p.Glu366Gly) | |
| 1 | g.229431536T>G | CA345144258 | ACTA1 | c.1019A>C (p.Glu340Ala) c.962A>C (p.Glu321Ala) c.728A>C (p.Glu243Ala) c.1097A>C (p.Glu366Ala) | |
| 1 | g.229431537C>A | CA345144265 | ACTA1 | c.1018G>T (p.Glu340Ter) c.961G>T (p.Glu321Ter) c.727G>T (p.Glu243Ter) c.1096G>T (p.Glu366Ter) | |
| 1 | g.229431537C>G | CA345144268 | ACTA1 | c.1018G>C (p.Glu340Gln) c.961G>C (p.Glu321Gln) c.727G>C (p.Glu243Gln) c.1096G>C (p.Glu366Gln) | |
| 1 | g.229431537C>T | CA345144270 | ACTA1 | c.1018G>A (p.Glu340Lys) c.961G>A (p.Glu321Lys) c.727G>A (p.Glu243Lys) c.1096G>A (p.Glu366Lys) | |
| 1 | g.229431538G>A | CA1442708 | ACTA1 | c.1017C>T (p.Asp339=) c.960C>T (p.Asp320=) c.726C>T (p.Asp242=) c.1095C>T (p.Asp365=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229431538G>C | CA1442707 | ACTA1 | c.1017C>G (p.Asp339Glu) c.960C>G (p.Asp320Glu) c.726C>G (p.Asp242Glu) c.1095C>G (p.Asp365Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229431538G= | CA1143959170 | ACTA1 | c.1017C= (p.Asp339=) c.960C= (p.Asp320=) c.726C= (p.Asp242=) c.1095C= (p.Asp365=) | |
| 1 | g.229431538G>T | CA345144280 | ACTA1 | c.1017C>A (p.Asp339Glu) c.960C>A (p.Asp320Glu) c.726C>A (p.Asp242Glu) c.1095C>A (p.Asp365Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431539T>A | CA345144283 | ACTA1 | c.1016A>T (p.Asp339Val) c.959A>T (p.Asp320Val) c.725A>T (p.Asp242Val) c.1094A>T (p.Asp365Val) | |
| 1 | g.229431539T>C | CA345144285 | ACTA1 | c.1016A>G (p.Asp339Gly) c.959A>G (p.Asp320Gly) c.725A>G (p.Asp242Gly) c.1094A>G (p.Asp365Gly) | |
| 1 | g.229431539T>G | CA345144287 | ACTA1 | c.1016A>C (p.Asp339Ala) c.959A>C (p.Asp320Ala) c.725A>C (p.Asp242Ala) c.1094A>C (p.Asp365Ala) | |
| 1 | g.229431540del | CA2698259255 | ACTA1 | c.1015del (p.Asp339ThrfsTer?) c.958del (p.Asp320ThrfsTer?) c.724del (p.Asp242ThrfsTer?) c.1093del (p.Asp365ThrfsTer?) | dbSNP |
| 1 | g.229431540C>A | CA345144291 | ACTA1 | c.1015G>T (p.Asp339Tyr) c.958G>T (p.Asp320Tyr) c.724G>T (p.Asp242Tyr) c.1093G>T (p.Asp365Tyr) | |
| 1 | g.229431540C>G | CA345144294 | ACTA1 | c.1015G>C (p.Asp339His) c.958G>C (p.Asp320His) c.724G>C (p.Asp242His) c.1093G>C (p.Asp365His) | |
| 1 | g.229431540C>T | CA345144297 | ACTA1 | c.1015G>A (p.Asp339Asn) c.958G>A (p.Asp320Asn) c.724G>A (p.Asp242Asn) c.1093G>A (p.Asp365Asn) | |
| 1 | g.229431540dup | CA2650926579 | ACTA1 | c.1015dup (p.Asp339GlyfsTer?) c.958dup (p.Asp320GlyfsTer?) c.724dup (p.Asp242GlyfsTer?) c.1093dup (p.Asp365GlyfsTer?) | gnomAD v4 |
| 1 | g.229431541del | CA915940544 | ACTA1 | c.1014del (p.Tyr338Ter) c.957del (p.Tyr319Ter) c.723del (p.Tyr241Ter) c.1092del (p.Tyr364Ter) | |
| 1 | g.229431541G>A | CA38814650 | ACTA1 | c.1014C>T (p.Tyr338=) c.957C>T (p.Tyr319=) c.723C>T (p.Tyr241=) c.1092C>T (p.Tyr364=) | dbSNP gnomAD v4 |
| 1 | g.229431541G>C | CA345144302 | ACTA1 | c.1014C>G (p.Tyr338Ter) c.957C>G (p.Tyr319Ter) c.723C>G (p.Tyr241Ter) c.1092C>G (p.Tyr364Ter) | dbSNP |
| 1 | g.229431541G= | CA1226125375 | ACTA1 | c.1014C= (p.Tyr338=) c.957C= (p.Tyr319=) c.723C= (p.Tyr241=) c.1092C= (p.Tyr364=) | |
| 1 | g.229431541G>T | CA345144306 | ACTA1 | c.1014C>A (p.Tyr338Ter) c.957C>A (p.Tyr319Ter) c.723C>A (p.Tyr241Ter) c.1092C>A (p.Tyr364Ter) | |
| 1 | g.229431542T>A | CA345144311 | ACTA1 | c.1013A>T (p.Tyr338Phe) c.956A>T (p.Tyr319Phe) c.722A>T (p.Tyr241Phe) c.1091A>T (p.Tyr364Phe) | |
| 1 | g.229431542T>C | CA345144314 | ACTA1 | c.1013A>G (p.Tyr338Cys) c.956A>G (p.Tyr319Cys) c.722A>G (p.Tyr241Cys) c.1091A>G (p.Tyr364Cys) | |
| 1 | g.229431542T>G | CA345144316 | ACTA1 | c.1013A>C (p.Tyr338Ser) c.956A>C (p.Tyr319Ser) c.722A>C (p.Tyr241Ser) c.1091A>C (p.Tyr364Ser) | |
| 1 | g.229431543A>C | CA345144320 | ACTA1 | c.1012T>G (p.Tyr338Asp) c.955T>G (p.Tyr319Asp) c.721T>G (p.Tyr241Asp) c.1090T>G (p.Tyr364Asp) | |
| 1 | g.229431543A>G | CA345144322 | ACTA1 | c.1012T>C (p.Tyr338His) c.955T>C (p.Tyr319His) c.721T>C (p.Tyr241His) c.1090T>C (p.Tyr364His) | |
| 1 | g.229431543A>T | CA345144330 | ACTA1 | c.1012T>A (p.Tyr338Asn) c.955T>A (p.Tyr319Asn) c.721T>A (p.Tyr241Asn) c.1090T>A (p.Tyr364Asn) | |
| 1 | g.229431544C>A | CA345144336 | ACTA1 | c.1011G>T (p.Glu337Asp) c.954G>T (p.Glu318Asp) c.720G>T (p.Glu240Asp) c.1089G>T (p.Glu363Asp) | |
| 1 | g.229431544C>G | CA345144338 | ACTA1 | c.1011G>C (p.Glu337Asp) c.954G>C (p.Glu318Asp) c.720G>C (p.Glu240Asp) c.1089G>C (p.Glu363Asp) | |
| 1 | g.229431544C>T | CA423754830 | ACTA1 | c.1011G>A (p.Glu337=) c.954G>A (p.Glu318=) c.720G>A (p.Glu240=) c.1089G>A (p.Glu363=) | |
| 1 | g.229431545T>A | CA345144342 | ACTA1 | c.1010A>T (p.Glu337Val) c.953A>T (p.Glu318Val) c.719A>T (p.Glu240Val) c.1088A>T (p.Glu363Val) | |
| 1 | g.229431545T>C | CA345144343 | ACTA1 | c.1010A>G (p.Glu337Gly) c.953A>G (p.Glu318Gly) c.719A>G (p.Glu240Gly) c.1088A>G (p.Glu363Gly) | gnomAD v4 |
| 1 | g.229431545T>G | CA345144345 | ACTA1 | c.1010A>C (p.Glu337Ala) c.953A>C (p.Glu318Ala) c.719A>C (p.Glu240Ala) c.1088A>C (p.Glu363Ala) | gnomAD v4 |
| 1 | g.229431546C>A | CA345144352 | ACTA1 | c.1009G>T (p.Glu337Ter) c.952G>T (p.Glu318Ter) c.718G>T (p.Glu240Ter) c.1087G>T (p.Glu363Ter) | |
| 1 | g.229431546C>G | CA345144353 | ACTA1 | c.1009G>C (p.Glu337Gln) c.952G>C (p.Glu318Gln) c.718G>C (p.Glu240Gln) c.1087G>C (p.Glu363Gln) | |
| 1 | g.229431546C>T | CA345144350 | ACTA1 | c.1009G>A (p.Glu337Lys) c.952G>A (p.Glu318Lys) c.718G>A (p.Glu240Lys) c.1087G>A (p.Glu363Lys) | |
| 1 | g.229431547C>A | CA345144356 | ACTA1 | c.1008G>T (p.Gln336His) c.951G>T (p.Gln317His) c.717G>T (p.Gln239His) c.1086G>T (p.Gln362His) | |
| 1 | g.229431547C>G | CA345144359 | ACTA1 | c.1008G>C (p.Gln336His) c.951G>C (p.Gln317His) c.717G>C (p.Gln239His) c.1086G>C (p.Gln362His) | |
| 1 | g.229431547C>T | CA423754835 | ACTA1 | c.1008G>A (p.Gln336=) c.951G>A (p.Gln317=) c.717G>A (p.Gln239=) c.1086G>A (p.Gln362=) | gnomAD v4 |
| 1 | g.229431548T>A | CA345144361 | ACTA1 | c.1007A>T (p.Gln336Leu) c.950A>T (p.Gln317Leu) c.716A>T (p.Gln239Leu) c.1085A>T (p.Gln362Leu) | |
| 1 | g.229431548T>C | CA345144362 | ACTA1 | c.1007A>G (p.Gln336Arg) c.950A>G (p.Gln317Arg) c.716A>G (p.Gln239Arg) c.1085A>G (p.Gln362Arg) | |
| 1 | g.229431548T>G | CA345144365 | ACTA1 | c.1007A>C (p.Gln336Pro) c.950A>C (p.Gln317Pro) c.716A>C (p.Gln239Pro) c.1085A>C (p.Gln362Pro) | |
| 1 | g.229431549G>A | CA345144370 | ACTA1 | c.1006C>T (p.Gln336Ter) c.949C>T (p.Gln317Ter) c.715C>T (p.Gln239Ter) c.1084C>T (p.Gln362Ter) | |
| 1 | g.229431549G>C | CA345144374 | ACTA1 | c.1006C>G (p.Gln336Glu) c.949C>G (p.Gln317Glu) c.715C>G (p.Gln239Glu) c.1084C>G (p.Gln362Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229431549G= | CA1226125376 | ACTA1 | c.1006C= (p.Gln336=) c.949C= (p.Gln317=) c.715C= (p.Gln239=) c.1084C= (p.Gln362=) | |
| 1 | g.229431549G>T | CA345144377 | ACTA1 | c.1006C>A (p.Gln336Lys) c.949C>A (p.Gln317Lys) c.715C>A (p.Gln239Lys) c.1084C>A (p.Gln362Lys) | |
| 1 | g.229431550C>A | CA345144380 | ACTA1 | c.1005G>T (p.Lys335Asn) c.948G>T (p.Lys316Asn) c.714G>T (p.Lys238Asn) c.1083G>T (p.Lys361Asn) | |
| 1 | g.229431550C= | CA1226125377 | ACTA1 | c.1005G= (p.Lys335=) c.948G= (p.Lys316=) c.714G= (p.Lys238=) c.1083G= (p.Lys361=) |