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.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) | |
| 3 | g.24127514G>T | CA351888484 | THRB | c.1129C>A (p.Leu377Met) c.*1758C>A (n.*1758C>A) c.1174C>A (p.Leu392Met) c.1036C>A (p.Leu346Met) c.973+156C>A (n.973+156C>A) | |
| 3 | g.24127515G>A | CA432916204 | THRB | c.1128C>T (p.Val376=) c.*1757C>T (n.*1757C>T) c.1173C>T (p.Val391=) c.1035C>T (p.Val345=) c.973+155C>T (n.973+155C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.24127515G>C | CA432916203 | THRB | c.1128C>G (p.Val376=) c.*1757C>G (n.*1757C>G) c.1173C>G (p.Val391=) c.1035C>G (p.Val345=) c.973+155C>G (n.973+155C>G) | |
| 3 | g.24127515G= | CA1351825239 | THRB | c.1128C= (p.Val376=) c.*1757C= (n.*1757C=) c.1173C= (p.Val391=) c.1035C= (p.Val345=) c.973+155C= (n.973+155C=) | |
| 3 | g.24127515G>T | CA432916202 | THRB | c.1128C>A (p.Val376=) c.*1757C>A (n.*1757C>A) c.1173C>A (p.Val391=) c.1035C>A (p.Val345=) c.973+155C>A (n.973+155C>A) | |
| 3 | g.24127516A>C | CA351888486 | THRB | c.1127T>G (p.Val376Gly) c.*1756T>G (n.*1756T>G) c.1172T>G (p.Val391Gly) c.1034T>G (p.Val345Gly) c.973+154T>G (n.973+154T>G) | |
| 3 | g.24127516A>G | CA351888488 | THRB | c.1127T>C (p.Val376Ala) c.*1756T>C (n.*1756T>C) c.1172T>C (p.Val391Ala) c.1034T>C (p.Val345Ala) c.973+154T>C (n.973+154T>C) | |
| 3 | g.24127516A>T | CA351888490 | THRB | c.1127T>A (p.Val376Asp) c.*1756T>A (n.*1756T>A) c.1172T>A (p.Val391Asp) c.1034T>A (p.Val345Asp) c.973+154T>A (n.973+154T>A) | |
| 3 | g.24127517C>A | CA351888492 | THRB | c.1126G>T (p.Val376Phe) c.*1755G>T (n.*1755G>T) c.1171G>T (p.Val391Phe) c.1033G>T (p.Val345Phe) c.973+153G>T (n.973+153G>T) | |
| 3 | g.24127517C= | CA1351825240 | THRB | c.1126G= (p.Val376=) c.*1755G= (n.*1755G=) c.1171G= (p.Val391=) c.1033G= (p.Val345=) c.973+153G= (n.973+153G=) | |
| 3 | g.24127517C>G | CA2287122 | THRB | c.1126G>C (p.Val376Leu) c.*1755G>C (n.*1755G>C) c.1171G>C (p.Val391Leu) c.1033G>C (p.Val345Leu) c.973+153G>C (n.973+153G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.24127517C>T | CA351888494 | THRB | c.1126G>A (p.Val376Ile) c.*1755G>A (n.*1755G>A) c.1171G>A (p.Val391Ile) c.1033G>A (p.Val345Ile) c.973+153G>A (n.973+153G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24127518G>A | CA2287123 | THRB | c.1125C>T (p.Ala375=) c.*1754C>T (n.*1754C>T) c.1170C>T (p.Ala390=) c.1032C>T (p.Ala344=) c.973+152C>T (n.973+152C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24127518G>C | CA432916208 | THRB | c.1125C>G (p.Ala375=) c.*1754C>G (n.*1754C>G) c.1170C>G (p.Ala390=) c.1032C>G (p.Ala344=) c.973+152C>G (n.973+152C>G) | |
| 3 | g.24127518G= | CA1351825243 | THRB | c.1125C= (p.Ala375=) c.*1754C= (n.*1754C=) c.1170C= (p.Ala390=) c.1032C= (p.Ala344=) c.973+152C= (n.973+152C=) | |
| 3 | g.24127518G>T | CA432916207 | THRB | c.1125C>A (p.Ala375=) c.*1754C>A (n.*1754C>A) c.1170C>A (p.Ala390=) c.1032C>A (p.Ala344=) c.973+152C>A (n.973+152C>A) | |
| 3 | g.24127519G>A | CA351888497 | THRB | c.1124C>T (p.Ala375Val) c.*1753C>T (n.*1753C>T) c.1169C>T (p.Ala390Val) c.1031C>T (p.Ala344Val) c.973+151C>T (n.973+151C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.24127519G>C | CA351888499 | THRB | c.1124C>G (p.Ala375Gly) c.*1753C>G (n.*1753C>G) c.1169C>G (p.Ala390Gly) c.1031C>G (p.Ala344Gly) c.973+151C>G (n.973+151C>G) | |
| 3 | g.24127519G= | CA1351825248 | THRB | c.1124C= (p.Ala375=) c.*1753C= (n.*1753C=) c.1169C= (p.Ala390=) c.1031C= (p.Ala344=) c.973+151C= (n.973+151C=) | |
| 3 | g.24127519G>T | CA351888501 | THRB | c.1124C>A (p.Ala375Asp) c.*1753C>A (n.*1753C>A) c.1169C>A (p.Ala390Asp) c.1031C>A (p.Ala344Asp) c.973+151C>A (n.973+151C>A) | |
| 3 | g.24127520C>A | CA351888502 | THRB | c.1123G>T (p.Ala375Ser) c.*1752G>T (n.*1752G>T) c.1168G>T (p.Ala390Ser) c.1030G>T (p.Ala344Ser) c.973+150G>T (n.973+150G>T) | gnomAD v4 |
| 3 | g.24127520C>G | CA351888503 | THRB | c.1123G>C (p.Ala375Pro) c.*1752G>C (n.*1752G>C) c.1168G>C (p.Ala390Pro) c.1030G>C (p.Ala344Pro) c.973+150G>C (n.973+150G>C) | |
| 3 | g.24127520C>T | CA351888505 | THRB | c.1123G>A (p.Ala375Thr) c.*1752G>A (n.*1752G>A) c.1168G>A (p.Ala390Thr) c.1030G>A (p.Ala344Thr) c.973+150G>A (n.973+150G>A) | |
| 3 | g.24127521C>A | CA2287124 | THRB | c.1122G>T (p.Gln374His) c.*1751G>T (n.*1751G>T) c.1167G>T (p.Gln389His) c.1029G>T (p.Gln343His) c.973+149G>T (n.973+149G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.24127521C= | CA1351825252 | THRB | c.1122G= (p.Gln374=) c.*1751G= (n.*1751G=) c.1167G= (p.Gln389=) c.1029G= (p.Gln343=) c.973+149G= (n.973+149G=) | |
| 3 | g.24127521C>G | CA351888508 | THRB | c.1122G>C (p.Gln374His) c.*1751G>C (n.*1751G>C) c.1167G>C (p.Gln389His) c.1029G>C (p.Gln343His) c.973+149G>C (n.973+149G>C) | |
| 3 | g.24127521C>T | CA432916212 | THRB | c.1122G>A (p.Gln374=) c.*1751G>A (n.*1751G>A) c.1167G>A (p.Gln389=) c.1029G>A (p.Gln343=) c.973+149G>A (n.973+149G>A) | |
| 3 | g.24127522T>A | CA351888510 | THRB | c.1121A>T (p.Gln374Leu) c.*1750A>T (n.*1750A>T) c.1166A>T (p.Gln389Leu) c.1028A>T (p.Gln343Leu) c.973+148A>T (n.973+148A>T) | |
| 3 | g.24127522T>C | CA351888512 | THRB | c.1121A>G (p.Gln374Arg) c.*1750A>G (n.*1750A>G) c.1166A>G (p.Gln389Arg) c.1028A>G (p.Gln343Arg) c.973+148A>G (n.973+148A>G) |