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 |
|---|---|---|---|---|---|
| 3 | g.24127499C>A | CA351888427 | THRB | c.1144G>T (p.Asp382Tyr) c.*1773G>T (n.*1773G>T) c.1189G>T (p.Asp397Tyr) c.1051G>T (p.Asp351Tyr) c.973+171G>T (n.973+171G>T) | |
| 3 | g.24127499C= | CA1351825236 | THRB | c.1144G= (p.Asp382=) c.*1773G= (n.*1773G=) c.1189G= (p.Asp397=) c.1051G= (p.Asp351=) c.973+171G= (n.973+171G=) | |
| 3 | g.24127499C>G | CA351888429 | THRB | c.1144G>C (p.Asp382His) c.*1773G>C (n.*1773G>C) c.1189G>C (p.Asp397His) c.1051G>C (p.Asp351His) c.973+171G>C (n.973+171G>C) | |
| 3 | g.24127499C>T | CA351888430 | THRB | c.1144G>A (p.Asp382Asn) c.*1773G>A (n.*1773G>A) c.1189G>A (p.Asp397Asn) c.1051G>A (p.Asp351Asn) c.973+171G>A (n.973+171G>A) | dbSNP |
| 3 | g.24127500T>A | CA432916177 | THRB | c.1143A>T (p.Ser381=) c.*1772A>T (n.*1772A>T) c.1188A>T (p.Ser396=) c.1050A>T (p.Ser350=) c.973+170A>T (n.973+170A>T) | |
| 3 | g.24127500T>C | CA432916175 | THRB | c.1143A>G (p.Ser381=) c.*1772A>G (n.*1772A>G) c.1188A>G (p.Ser396=) c.1050A>G (p.Ser350=) c.973+170A>G (n.973+170A>G) | |
| 3 | g.24127500T>G | CA432916174 | THRB | c.1143A>C (p.Ser381=) c.*1772A>C (n.*1772A>C) c.1188A>C (p.Ser396=) c.1050A>C (p.Ser350=) c.973+170A>C (n.973+170A>C) | |
| 3 | g.24127501G>A | CA351888434 | THRB | c.1142C>T (p.Ser381Leu) c.*1771C>T (n.*1771C>T) c.1187C>T (p.Ser396Leu) c.1049C>T (p.Ser350Leu) c.973+169C>T (n.973+169C>T) | |
| 3 | g.24127501G>C | CA351888431 | THRB | c.1142C>G (p.Ser381Ter) c.*1771C>G (n.*1771C>G) c.1187C>G (p.Ser396Ter) c.1049C>G (p.Ser350Ter) c.973+169C>G (n.973+169C>G) | |
| 3 | g.24127501G>T | CA351888432 | THRB | c.1142C>A (p.Ser381Ter) c.*1771C>A (n.*1771C>A) c.1187C>A (p.Ser396Ter) c.1049C>A (p.Ser350Ter) c.973+169C>A (n.973+169C>A) | |
| 3 | g.24127502A>C | CA351888436 | THRB | c.1141T>G (p.Ser381Ala) c.*1770T>G (n.*1770T>G) c.1186T>G (p.Ser396Ala) c.1048T>G (p.Ser350Ala) c.973+168T>G (n.973+168T>G) | gnomAD v4 |
| 3 | g.24127502A>G | CA351888438 | THRB | c.1141T>C (p.Ser381Pro) c.*1770T>C (n.*1770T>C) c.1186T>C (p.Ser396Pro) c.1048T>C (p.Ser350Pro) c.973+168T>C (n.973+168T>C) | |
| 3 | g.24127502A>T | CA351888440 | THRB | c.1141T>A (p.Ser381Thr) c.*1770T>A (n.*1770T>A) c.1186T>A (p.Ser396Thr) c.1048T>A (p.Ser350Thr) c.973+168T>A (n.973+168T>A) | |
| 3 | g.24127503A>C | CA432916181 | THRB | c.1140T>G (p.Ser380=) c.*1769T>G (n.*1769T>G) c.1185T>G (p.Ser395=) c.1047T>G (p.Ser349=) c.973+167T>G (n.973+167T>G) | |
| 3 | g.24127503A>G | CA432916182 | THRB | c.1140T>C (p.Ser380=) c.*1769T>C (n.*1769T>C) c.1185T>C (p.Ser395=) c.1047T>C (p.Ser349=) c.973+167T>C (n.973+167T>C) | |
| 3 | g.24127503A>T | CA432916183 | THRB | c.1140T>A (p.Ser380=) c.*1769T>A (n.*1769T>A) c.1185T>A (p.Ser395=) c.1047T>A (p.Ser349=) c.973+167T>A (n.973+167T>A) | |
| 3 | g.24127504G>A | CA351888442 | THRB | c.1139C>T (p.Ser380Phe) c.*1768C>T (n.*1768C>T) c.1184C>T (p.Ser395Phe) c.1046C>T (p.Ser349Phe) c.973+166C>T (n.973+166C>T) | |
| 3 | g.24127504G>C | CA71608506 | THRB | c.1139C>G (p.Ser380Cys) c.*1768C>G (n.*1768C>G) c.1184C>G (p.Ser395Cys) c.1046C>G (p.Ser349Cys) c.973+166C>G (n.973+166C>G) | dbSNP |
| 3 | g.24127504G= | CA1351825237 | THRB | c.1139C= (p.Ser380=) c.*1768C= (n.*1768C=) c.1184C= (p.Ser395=) c.1046C= (p.Ser349=) c.973+166C= (n.973+166C=) | |
| 3 | g.24127504G>T | CA351888443 | THRB | c.1139C>A (p.Ser380Tyr) c.*1768C>A (n.*1768C>A) c.1184C>A (p.Ser395Tyr) c.1046C>A (p.Ser349Tyr) c.973+166C>A (n.973+166C>A) | |
| 3 | g.24127505A>C | CA351888446 | THRB | c.1138T>G (p.Ser380Ala) c.*1767T>G (n.*1767T>G) c.1183T>G (p.Ser395Ala) c.1045T>G (p.Ser349Ala) c.973+165T>G (n.973+165T>G) | |
| 3 | g.24127505A>G | CA351888447 | THRB | c.1138T>C (p.Ser380Pro) c.*1767T>C (n.*1767T>C) c.1183T>C (p.Ser395Pro) c.1045T>C (p.Ser349Pro) c.973+165T>C (n.973+165T>C) | |
| 3 | g.24127505A>T | CA351888449 | THRB | c.1138T>A (p.Ser380Thr) c.*1767T>A (n.*1767T>A) c.1183T>A (p.Ser395Thr) c.1045T>A (p.Ser349Thr) c.973+165T>A (n.973+165T>A) | |
| 3 | g.24127506C>A | CA351888451 | THRB | c.1137G>T (p.Met379Ile) c.*1766G>T (n.*1766G>T) c.1182G>T (p.Met394Ile) c.1044G>T (p.Met348Ile) c.973+164G>T (n.973+164G>T) | |
| 3 | g.24127506C>G | CA351888453 | THRB | c.1137G>C (p.Met379Ile) c.*1766G>C (n.*1766G>C) c.1182G>C (p.Met394Ile) c.1044G>C (p.Met348Ile) c.973+164G>C (n.973+164G>C) | |
| 3 | g.24127506C>T | CA351888455 | THRB | c.1137G>A (p.Met379Ile) c.*1766G>A (n.*1766G>A) c.1182G>A (p.Met394Ile) c.1044G>A (p.Met348Ile) c.973+164G>A (n.973+164G>A) | |
| 3 | g.24127507A>C | CA351888457 | THRB | c.1136T>G (p.Met379Arg) c.*1765T>G (n.*1765T>G) c.1181T>G (p.Met394Arg) c.1043T>G (p.Met348Arg) c.973+163T>G (n.973+163T>G) | |
| 3 | g.24127507A>G | CA351888460 | THRB | c.1136T>C (p.Met379Thr) c.*1765T>C (n.*1765T>C) c.1181T>C (p.Met394Thr) c.1043T>C (p.Met348Thr) c.973+163T>C (n.973+163T>C) | |
| 3 | g.24127507A>T | CA351888459 | THRB | c.1136T>A (p.Met379Lys) c.*1765T>A (n.*1765T>A) c.1181T>A (p.Met394Lys) c.1043T>A (p.Met348Lys) c.973+163T>A (n.973+163T>A) | |
| 3 | g.24127508T>A | CA351888462 | THRB | c.1135A>T (p.Met379Leu) c.*1764A>T (n.*1764A>T) c.1180A>T (p.Met394Leu) c.1042A>T (p.Met348Leu) c.973+162A>T (n.973+162A>T) | dbSNP |
| 3 | g.24127508T>C | CA351888464 | THRB | c.1135A>G (p.Met379Val) c.*1764A>G (n.*1764A>G) c.1180A>G (p.Met394Val) c.1042A>G (p.Met348Val) c.973+162A>G (n.973+162A>G) | |
| 3 | g.24127508T>G | CA351888466 | THRB | c.1135A>C (p.Met379Leu) c.*1764A>C (n.*1764A>C) c.1180A>C (p.Met394Leu) c.1042A>C (p.Met348Leu) c.973+162A>C (n.973+162A>C) | |
| 3 | g.24127508T= | CA1351825238 | THRB | c.1135A= (p.Met379=) c.*1764A= (n.*1764A=) c.1180A= (p.Met394=) c.1042A= (p.Met348=) c.973+162A= (n.973+162A=) | |
| 3 | g.24127509C>A | CA432916187 | THRB | c.1134G>T (p.Leu378=) c.*1763G>T (n.*1763G>T) c.1179G>T (p.Leu393=) c.1041G>T (p.Leu347=) c.973+161G>T (n.973+161G>T) | gnomAD v4 |
| 3 | g.24127509C>G | CA432916188 | THRB | c.1134G>C (p.Leu378=) c.*1763G>C (n.*1763G>C) c.1179G>C (p.Leu393=) c.1041G>C (p.Leu347=) c.973+161G>C (n.973+161G>C) | |
| 3 | g.24127509C>T | CA432916189 | THRB | c.1134G>A (p.Leu378=) c.*1763G>A (n.*1763G>A) c.1179G>A (p.Leu393=) c.1041G>A (p.Leu347=) c.973+161G>A (n.973+161G>A) | gnomAD v4 |
| 3 | g.24127510A>C | CA351888468 | THRB | c.1133T>G (p.Leu378Arg) c.*1762T>G (n.*1762T>G) c.1178T>G (p.Leu393Arg) c.1040T>G (p.Leu347Arg) c.973+160T>G (n.973+160T>G) | |
| 3 | g.24127510A>G | CA351888470 | THRB | c.1133T>C (p.Leu378Pro) c.*1762T>C (n.*1762T>C) c.1178T>C (p.Leu393Pro) c.1040T>C (p.Leu347Pro) c.973+160T>C (n.973+160T>C) | |
| 3 | g.24127510A>T | CA351888472 | THRB | c.1133T>A (p.Leu378Gln) c.*1762T>A (n.*1762T>A) c.1178T>A (p.Leu393Gln) c.1040T>A (p.Leu347Gln) c.973+160T>A (n.973+160T>A) | |
| 3 | g.24127511G>A | CA432916193 | THRB | c.1132C>T (p.Leu378=) c.*1761C>T (n.*1761C>T) c.1177C>T (p.Leu393=) c.1039C>T (p.Leu347=) c.973+159C>T (n.973+159C>T) | |
| 3 | g.24127511G>C | CA351888473 | THRB | c.1132C>G (p.Leu378Val) c.*1761C>G (n.*1761C>G) c.1177C>G (p.Leu393Val) c.1039C>G (p.Leu347Val) c.973+159C>G (n.973+159C>G) | |
| 3 | g.24127511G>T | CA351888474 | THRB | c.1132C>A (p.Leu378Met) c.*1761C>A (n.*1761C>A) c.1177C>A (p.Leu393Met) c.1039C>A (p.Leu347Met) c.973+159C>A (n.973+159C>A) | |
| 3 | g.24127512C>A | CA432916194 | THRB | c.1131G>T (p.Leu377=) c.*1760G>T (n.*1760G>T) c.1176G>T (p.Leu392=) c.1038G>T (p.Leu346=) c.973+158G>T (n.973+158G>T) | |
| 3 | g.24127512C>G | CA432916195 | THRB | c.1131G>C (p.Leu377=) c.*1760G>C (n.*1760G>C) c.1176G>C (p.Leu392=) c.1038G>C (p.Leu346=) c.973+158G>C (n.973+158G>C) | |
| 3 | g.24127512C>T | CA432916196 | THRB | c.1131G>A (p.Leu377=) c.*1760G>A (n.*1760G>A) c.1176G>A (p.Leu392=) c.1038G>A (p.Leu346=) c.973+158G>A (n.973+158G>A) | |
| 3 | g.24127513A>C | CA351888477 | THRB | c.1130T>G (p.Leu377Arg) c.*1759T>G (n.*1759T>G) c.1175T>G (p.Leu392Arg) c.1037T>G (p.Leu346Arg) c.973+157T>G (n.973+157T>G) | |
| 3 | g.24127513A>G | CA351888480 | THRB | c.1130T>C (p.Leu377Pro) c.*1759T>C (n.*1759T>C) c.1175T>C (p.Leu392Pro) c.1037T>C (p.Leu346Pro) c.973+157T>C (n.973+157T>C) | |
| 3 | g.24127513A>T | CA351888479 | THRB | c.1130T>A (p.Leu377Gln) c.*1759T>A (n.*1759T>A) c.1175T>A (p.Leu392Gln) c.1037T>A (p.Leu346Gln) c.973+157T>A (n.973+157T>A) | |
| 3 | g.24127514G>A | CA432916199 | THRB | c.1129C>T (p.Leu377=) c.*1758C>T (n.*1758C>T) c.1174C>T (p.Leu392=) c.1036C>T (p.Leu346=) c.973+156C>T (n.973+156C>T) | |
| 3 | g.24127514G>C | CA351888482 | THRB | c.1129C>G (p.Leu377Val) c.*1758C>G (n.*1758C>G) c.1174C>G (p.Leu392Val) c.1036C>G (p.Leu346Val) c.973+156C>G (n.973+156C>G) |