WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.24122941C>A | CA351886558 | THRB | c.1329G>T (p.Lys443Asn) c.*1958G>T (n.*1958G>T) c.1374G>T (p.Lys458Asn) c.1236G>T (p.Lys412Asn) c.1158G>T (p.Lys386Asn) | |
| 3 | g.24122941C>G | CA351886559 | THRB | c.1329G>C (p.Lys443Asn) c.*1958G>C (n.*1958G>C) c.1374G>C (p.Lys458Asn) c.1236G>C (p.Lys412Asn) c.1158G>C (p.Lys386Asn) | |
| 3 | g.24122941C>T | CA432904182 | THRB | c.1329G>A (p.Lys443=) c.*1958G>A (n.*1958G>A) c.1374G>A (p.Lys458=) c.1236G>A (p.Lys412=) c.1158G>A (p.Lys386=) | |
| 3 | g.24122942T>A | CA351886560 | THRB | c.1328A>T (p.Lys443Met) c.*1957A>T (n.*1957A>T) c.1373A>T (p.Lys458Met) c.1235A>T (p.Lys412Met) c.1157A>T (p.Lys386Met) | |
| 3 | g.24122942T>C | CA351886562 | THRB | c.1328A>G (p.Lys443Arg) c.*1957A>G (n.*1957A>G) c.1373A>G (p.Lys458Arg) c.1235A>G (p.Lys412Arg) c.1157A>G (p.Lys386Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.24122942T>G | CA351886561 | THRB | c.1328A>C (p.Lys443Thr) c.*1957A>C (n.*1957A>C) c.1373A>C (p.Lys458Thr) c.1235A>C (p.Lys412Thr) c.1157A>C (p.Lys386Thr) | |
| 3 | g.24122942T= | CA1351822167 | THRB | c.1328A= (p.Lys443=) c.*1957A= (n.*1957A=) c.1373A= (p.Lys458=) c.1235A= (p.Lys412=) c.1157A= (p.Lys386=) | |
| 3 | g.24122943T>A | CA351886563 | THRB | c.1327A>T (p.Lys443Ter) c.*1956A>T (n.*1956A>T) c.1372A>T (p.Lys458Ter) c.1234A>T (p.Lys412Ter) c.1156A>T (p.Lys386Ter) | |
| 3 | g.24122943T>C | CA122483 | THRB | c.1327A>G (p.Lys443Glu) c.*1956A>G (n.*1956A>G) c.1372A>G (p.Lys458Glu) c.1234A>G (p.Lys412Glu) c.1156A>G (p.Lys386Glu) | ClinVar dbSNP |
| 3 | g.24122943T>G | CA351886564 | THRB | c.1327A>C (p.Lys443Gln) c.*1956A>C (n.*1956A>C) c.1372A>C (p.Lys458Gln) c.1234A>C (p.Lys412Gln) c.1156A>C (p.Lys386Gln) | |
| 3 | g.24122943T= | CA1351822177 | THRB | c.1327A= (p.Lys443=) c.*1956A= (n.*1956A=) c.1372A= (p.Lys458=) c.1234A= (p.Lys412=) c.1156A= (p.Lys386=) | |
| 3 | g.24122943_24122944delinsAT | CA658821264 | THRB | c.1326_1327delinsAT (p.Met442IlefsTer2) c.*1955_*1956delinsAT (n.*1955_*1956delinsAT) c.1371_1372delinsAT (p.Met457IlefsTer2) c.1233_1234delinsAT (p.Met411IlefsTer2) c.1155_1156delinsAT (p.Met385IlefsTer2) | ClinVar dbSNP |
| 3 | g.24122943_24122944delinsTC | CA1351822170 | THRB | c.1326_1327delinsGA (p.Met442=) c.*1955_*1956delinsGA (n.*1955_*1956delinsGA) c.1371_1372delinsGA (p.Met457=) c.1233_1234delinsGA (p.Met411=) c.1155_1156delinsGA (p.Met385=) | |
| 3 | g.24122944C>A | CA351886565 | THRB | c.1326G>T (p.Met442Ile) c.*1955G>T (n.*1955G>T) c.1371G>T (p.Met457Ile) c.1233G>T (p.Met411Ile) c.1155G>T (p.Met385Ile) | |
| 3 | g.24122944C>G | CA351886566 | THRB | c.1326G>C (p.Met442Ile) c.*1955G>C (n.*1955G>C) c.1371G>C (p.Met457Ile) c.1233G>C (p.Met411Ile) c.1155G>C (p.Met385Ile) | |
| 3 | g.24122944C>T | CA351886567 | THRB | c.1326G>A (p.Met442Ile) c.*1955G>A (n.*1955G>A) c.1371G>A (p.Met457Ile) c.1233G>A (p.Met411Ile) c.1155G>A (p.Met385Ile) | COSMIC |
| 3 | g.24122945A>C | CA351886568 | THRB | c.1325T>G (p.Met442Arg) c.*1954T>G (n.*1954T>G) c.1370T>G (p.Met457Arg) c.1232T>G (p.Met411Arg) c.1154T>G (p.Met385Arg) | |
| 3 | g.24122945A>G | CA351886569 | THRB | c.1325T>C (p.Met442Thr) c.*1954T>C (n.*1954T>C) c.1370T>C (p.Met457Thr) c.1232T>C (p.Met411Thr) c.1154T>C (p.Met385Thr) | |
| 3 | g.24122945A>T | CA351886570 | THRB | c.1325T>A (p.Met442Lys) c.*1954T>A (n.*1954T>A) c.1370T>A (p.Met457Lys) c.1232T>A (p.Met411Lys) c.1154T>A (p.Met385Lys) | |
| 3 | g.24122946T>A | CA351886571 | THRB | c.1324A>T (p.Met442Leu) c.*1953A>T (n.*1953A>T) c.1369A>T (p.Met457Leu) c.1231A>T (p.Met411Leu) c.1153A>T (p.Met385Leu) | |
| 3 | g.24122946T>C | CA122477 | THRB | c.1324A>G (p.Met442Val) c.*1953A>G (n.*1953A>G) c.1369A>G (p.Met457Val) c.1231A>G (p.Met411Val) c.1153A>G (p.Met385Val) | ClinVar dbSNP |
| 3 | g.24122946T>G | CA351886572 | THRB | c.1324A>C (p.Met442Leu) c.*1953A>C (n.*1953A>C) c.1369A>C (p.Met457Leu) c.1231A>C (p.Met411Leu) c.1153A>C (p.Met385Leu) | |
| 3 | g.24122946T= | CA1351822182 | THRB | c.1324A= (p.Met442=) c.*1953A= (n.*1953A=) c.1369A= (p.Met457=) c.1231A= (p.Met411=) c.1153A= (p.Met385=) | |
| 3 | g.24122947G>A | CA432904212 | THRB | c.1323C>T (p.His441=) c.*1952C>T (n.*1952C>T) c.1368C>T (p.His456=) c.1230C>T (p.His410=) c.1152C>T (p.His384=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.24122947G>C | CA351886574 | THRB | c.1323C>G (p.His441Gln) c.*1952C>G (n.*1952C>G) c.1368C>G (p.His456Gln) c.1230C>G (p.His410Gln) c.1152C>G (p.His384Gln) | |
| 3 | g.24122947G= | CA1351822186 | THRB | c.1323C= (p.His441=) c.*1952C= (n.*1952C=) c.1368C= (p.His456=) c.1230C= (p.His410=) c.1152C= (p.His384=) | |
| 3 | g.24122947G>T | CA351886573 | THRB | c.1323C>A (p.His441Gln) c.*1952C>A (n.*1952C>A) c.1368C>A (p.His456Gln) c.1230C>A (p.His410Gln) c.1152C>A (p.His384Gln) | |
| 3 | g.24122948T>A | CA351886575 | THRB | c.1322A>T (p.His441Leu) c.*1951A>T (n.*1951A>T) c.1367A>T (p.His456Leu) c.1229A>T (p.His410Leu) c.1151A>T (p.His384Leu) | |
| 3 | g.24122948T>C | CA351886576 | THRB | c.1322A>G (p.His441Arg) c.*1951A>G (n.*1951A>G) c.1367A>G (p.His456Arg) c.1229A>G (p.His410Arg) c.1151A>G (p.His384Arg) | |
| 3 | g.24122948T>G | CA351886577 | THRB | c.1322A>C (p.His441Pro) c.*1951A>C (n.*1951A>C) c.1367A>C (p.His456Pro) c.1229A>C (p.His410Pro) c.1151A>C (p.His384Pro) | |
| 3 | g.24122949G>A | CA351886578 | THRB | c.1321C>T (p.His441Tyr) c.*1950C>T (n.*1950C>T) c.1366C>T (p.His456Tyr) c.1228C>T (p.His410Tyr) c.1150C>T (p.His384Tyr) | |
| 3 | g.24122949G>C | CA351886579 | THRB | c.1321C>G (p.His441Asp) c.*1950C>G (n.*1950C>G) c.1366C>G (p.His456Asp) c.1228C>G (p.His410Asp) c.1150C>G (p.His384Asp) | |
| 3 | g.24122949G>T | CA351886580 | THRB | c.1321C>A (p.His441Asn) c.*1950C>A (n.*1950C>A) c.1366C>A (p.His456Asn) c.1228C>A (p.His410Asn) c.1150C>A (p.His384Asn) | |
| 3 | g.24122950del | CA2586965662 | THRB | c.1320del (p.His441ThrfsTer2) c.*1949del (n.*1949del) c.1365del (p.His456ThrfsTer2) c.1227del (p.His410ThrfsTer2) c.1149del (p.His384ThrfsTer2) | |
| 3 | g.24122950C>A | CA432904225 | THRB | c.1320G>T (p.Leu440=) c.*1949G>T (n.*1949G>T) c.1365G>T (p.Leu455=) c.1227G>T (p.Leu409=) c.1149G>T (p.Leu383=) | |
| 3 | g.24122950C= | CA1351822188 | THRB | c.1320G= (p.Leu440=) c.*1949G= (n.*1949G=) c.1365G= (p.Leu455=) c.1227G= (p.Leu409=) c.1149G= (p.Leu383=) | |
| 3 | g.24122950C>G | CA432904226 | THRB | c.1320G>C (p.Leu440=) c.*1949G>C (n.*1949G>C) c.1365G>C (p.Leu455=) c.1227G>C (p.Leu409=) c.1149G>C (p.Leu383=) | |
| 3 | g.24122950C>T | CA432904228 | THRB | c.1320G>A (p.Leu440=) c.*1949G>A (n.*1949G>A) c.1365G>A (p.Leu455=) c.1227G>A (p.Leu409=) c.1149G>A (p.Leu383=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.24122951A>C | CA351886581 | THRB | c.1319T>G (p.Leu440Arg) c.*1948T>G (n.*1948T>G) c.1364T>G (p.Leu455Arg) c.1226T>G (p.Leu409Arg) c.1148T>G (p.Leu383Arg) | |
| 3 | g.24122951A>G | CA351886582 | THRB | c.1319T>C (p.Leu440Pro) c.*1948T>C (n.*1948T>C) c.1364T>C (p.Leu455Pro) c.1226T>C (p.Leu409Pro) c.1148T>C (p.Leu383Pro) | |
| 3 | g.24122951A>T | CA351886583 | THRB | c.1319T>A (p.Leu440Gln) c.*1948T>A (n.*1948T>A) c.1364T>A (p.Leu455Gln) c.1226T>A (p.Leu409Gln) c.1148T>A (p.Leu383Gln) | |
| 3 | g.24122952G>A | CA432904233 | THRB | c.1318C>T (p.Leu440=) c.*1947C>T (n.*1947C>T) c.1363C>T (p.Leu455=) c.1225C>T (p.Leu409=) c.1147C>T (p.Leu383=) | dbSNP |
| 3 | g.24122952G>C | CA351886584 | THRB | c.1318C>G (p.Leu440Val) c.*1947C>G (n.*1947C>G) c.1363C>G (p.Leu455Val) c.1225C>G (p.Leu409Val) c.1147C>G (p.Leu383Val) | |
| 3 | g.24122952G= | CA1351822190 | THRB | c.1318C= (p.Leu440=) c.*1947C= (n.*1947C=) c.1363C= (p.Leu455=) c.1225C= (p.Leu409=) c.1147C= (p.Leu383=) | |
| 3 | g.24122952G>T | CA351886585 | THRB | c.1318C>A (p.Leu440Met) c.*1947C>A (n.*1947C>A) c.1363C>A (p.Leu455Met) c.1225C>A (p.Leu409Met) c.1147C>A (p.Leu383Met) | |
| 3 | g.24122953G>A | CA432904242 | THRB | c.1317C>T (p.Phe439=) c.*1946C>T (n.*1946C>T) c.1362C>T (p.Phe454=) c.1224C>T (p.Phe408=) c.1146C>T (p.Phe382=) | gnomAD v4 |
| 3 | g.24122953G>C | CA351886586 | THRB | c.1317C>G (p.Phe439Leu) c.*1946C>G (n.*1946C>G) c.1362C>G (p.Phe454Leu) c.1224C>G (p.Phe408Leu) c.1146C>G (p.Phe382Leu) | |
| 3 | g.24122953G>T | CA351886587 | THRB | c.1317C>A (p.Phe439Leu) c.*1946C>A (n.*1946C>A) c.1362C>A (p.Phe454Leu) c.1224C>A (p.Phe408Leu) c.1146C>A (p.Phe382Leu) | |
| 3 | g.24122954A>C | CA351886589 | THRB | c.1316T>G (p.Phe439Cys) c.*1945T>G (n.*1945T>G) c.1361T>G (p.Phe454Cys) c.1223T>G (p.Phe408Cys) c.1145T>G (p.Phe382Cys) | |
| 3 | g.24122954A>G | CA351886590 | THRB | c.1316T>C (p.Phe439Ser) c.*1945T>C (n.*1945T>C) c.1361T>C (p.Phe454Ser) c.1223T>C (p.Phe408Ser) c.1145T>C (p.Phe382Ser) |