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.173903989A>C | CA343772480 | SERPINC1 | c.1295T>G (p.Val432Gly) c.680T>G (p.Val227Gly) c.1151T>G (p.Val384Gly) c.1418T>G (p.Val473Gly) c.1376T>G (p.Val459Gly) c.1274T>G (p.Val425Gly) c.1238T>G (p.Val413Gly) c.1079T>G (p.Val360Gly) | |
| 1 | g.173903989A>G | CA343772482 | SERPINC1 | c.1295T>C (p.Val432Ala) c.680T>C (p.Val227Ala) c.1151T>C (p.Val384Ala) c.1418T>C (p.Val473Ala) c.1376T>C (p.Val459Ala) c.1274T>C (p.Val425Ala) c.1238T>C (p.Val413Ala) c.1079T>C (p.Val360Ala) | |
| 1 | g.173903989A>T | CA343772484 | SERPINC1 | c.1295T>A (p.Val432Glu) c.680T>A (p.Val227Glu) c.1151T>A (p.Val384Glu) c.1418T>A (p.Val473Glu) c.1376T>A (p.Val459Glu) c.1274T>A (p.Val425Glu) c.1238T>A (p.Val413Glu) c.1079T>A (p.Val360Glu) | |
| 1 | g.173903989_173903990insGA | CA2586967707 | SERPINC1 | c.1295_1296insCT (p.Thr433Ter) c.680_681insCT (p.Thr228Ter) c.1151_1152insCT (p.Thr385Ter) c.1418_1419insCT (p.Thr474Ter) c.1376_1377insCT (p.Thr460Ter) c.1274_1275insCT (p.Thr426Ter) c.1238_1239insCT (p.Thr414Ter) c.1079_1080insCT (p.Thr361Ter) | |
| 1 | g.173903990C>A | CA343772487 | SERPINC1 | c.1294G>T (p.Val432Leu) c.679G>T (p.Val227Leu) c.1150G>T (p.Val384Leu) c.1417G>T (p.Val473Leu) c.1375G>T (p.Val459Leu) c.1273G>T (p.Val425Leu) c.1237G>T (p.Val413Leu) c.1078G>T (p.Val360Leu) | |
| 1 | g.173903990C>G | CA343772488 | SERPINC1 | c.1294G>C (p.Val432Leu) c.679G>C (p.Val227Leu) c.1150G>C (p.Val384Leu) c.1417G>C (p.Val473Leu) c.1375G>C (p.Val459Leu) c.1273G>C (p.Val425Leu) c.1237G>C (p.Val413Leu) c.1078G>C (p.Val360Leu) | |
| 1 | g.173903990C>T | CA343772490 | SERPINC1 | c.1294G>A (p.Val432Met) c.679G>A (p.Val227Met) c.1150G>A (p.Val384Met) c.1417G>A (p.Val473Met) c.1375G>A (p.Val459Met) c.1273G>A (p.Val425Met) c.1237G>A (p.Val413Met) c.1078G>A (p.Val360Met) | gnomAD v4 |
| 1 | g.173903992dup | CA2586967708 | SERPINC1 | c.1294dup (p.Val432GlyfsTer?) c.679dup (p.Val227GlyfsTer?) c.1150dup (p.Val384GlyfsTer?) c.1417dup (p.Val473GlyfsTer?) c.1375dup (p.Val459GlyfsTer?) c.1273dup (p.Val425GlyfsTer?) c.1237dup (p.Val413GlyfsTer?) c.1078dup (p.Val360GlyfsTer?) | |
| 1 | g.173903992del | CA645537735 | SERPINC1 | c.1294del (p.Val432Ter) c.679del (p.Val227Ter) c.1150del (p.Val384Ter) c.1417del (p.Val473Ter) c.1375del (p.Val459Ter) c.1273del (p.Val425Ter) c.1237del (p.Val413Ter) c.1078del (p.Val360Ter) | COSMIC |
| 1 | g.173903991C>A | CA343772493 | SERPINC1 | c.1293G>T (p.Arg431Ser) c.678G>T (p.Arg226Ser) c.1149G>T (p.Arg383Ser) c.1416G>T (p.Arg472Ser) c.1374G>T (p.Arg458Ser) c.1272G>T (p.Arg424Ser) c.1236G>T (p.Arg412Ser) c.1077G>T (p.Arg359Ser) | gnomAD v4 |
| 1 | g.173903991C= | CA1207934381 | SERPINC1 | c.1293G= (p.Arg431=) c.678G= (p.Arg226=) c.1149G= (p.Arg383=) c.1416G= (p.Arg472=) c.1374G= (p.Arg458=) c.1272G= (p.Arg424=) c.1236G= (p.Arg412=) c.1077G= (p.Arg359=) | |
| 1 | g.173903991C>G | CA343772494 | SERPINC1 | c.1293G>C (p.Arg431Ser) c.678G>C (p.Arg226Ser) c.1149G>C (p.Arg383Ser) c.1416G>C (p.Arg472Ser) c.1374G>C (p.Arg458Ser) c.1272G>C (p.Arg424Ser) c.1236G>C (p.Arg412Ser) c.1077G>C (p.Arg359Ser) | |
| 1 | g.173903991C>T | CA421821521 | SERPINC1 | c.1293G>A (p.Arg431=) c.678G>A (p.Arg226=) c.1149G>A (p.Arg383=) c.1416G>A (p.Arg472=) c.1374G>A (p.Arg458=) c.1272G>A (p.Arg424=) c.1236G>A (p.Arg412=) c.1077G>A (p.Arg359=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173903992C>A | CA343772499 | SERPINC1 | c.1292G>T (p.Arg431Met) c.677G>T (p.Arg226Met) c.1148G>T (p.Arg383Met) c.1415G>T (p.Arg472Met) c.1373G>T (p.Arg458Met) c.1271G>T (p.Arg424Met) c.1235G>T (p.Arg412Met) c.1076G>T (p.Arg359Met) | |
| 1 | g.173903992C>G | CA343772501 | SERPINC1 | c.1292G>C (p.Arg431Thr) c.677G>C (p.Arg226Thr) c.1148G>C (p.Arg383Thr) c.1415G>C (p.Arg472Thr) c.1373G>C (p.Arg458Thr) c.1271G>C (p.Arg424Thr) c.1235G>C (p.Arg412Thr) c.1076G>C (p.Arg359Thr) | |
| 1 | g.173903992C>T | CA343772497 | SERPINC1 | c.1292G>A (p.Arg431Lys) c.677G>A (p.Arg226Lys) c.1148G>A (p.Arg383Lys) c.1415G>A (p.Arg472Lys) c.1373G>A (p.Arg458Lys) c.1271G>A (p.Arg424Lys) c.1235G>A (p.Arg412Lys) c.1076G>A (p.Arg359Lys) | |
| 1 | g.173903993T>A | CA343772505 | SERPINC1 | c.1291A>T (p.Arg431Trp) c.676A>T (p.Arg226Trp) c.1147A>T (p.Arg383Trp) c.1414A>T (p.Arg472Trp) c.1372A>T (p.Arg458Trp) c.1270A>T (p.Arg424Trp) c.1234A>T (p.Arg412Trp) c.1075A>T (p.Arg359Trp) | |
| 1 | g.173903993T>C | CA343772503 | SERPINC1 | c.1291A>G (p.Arg431Gly) c.676A>G (p.Arg226Gly) c.1147A>G (p.Arg383Gly) c.1414A>G (p.Arg472Gly) c.1372A>G (p.Arg458Gly) c.1270A>G (p.Arg424Gly) c.1234A>G (p.Arg412Gly) c.1075A>G (p.Arg359Gly) | |
| 1 | g.173903993T>G | CA421821523 | SERPINC1 | c.1291A>C (p.Arg431=) c.676A>C (p.Arg226=) c.1147A>C (p.Arg383=) c.1414A>C (p.Arg472=) c.1372A>C (p.Arg458=) c.1270A>C (p.Arg424=) c.1234A>C (p.Arg412=) c.1075A>C (p.Arg359=) | |
| 1 | g.173903994G>A | CA421821526 | SERPINC1 | c.1290C>T (p.Asn430=) c.675C>T (p.Asn225=) c.1146C>T (p.Asn382=) c.1413C>T (p.Asn471=) c.1371C>T (p.Asn457=) c.1269C>T (p.Asn423=) c.1233C>T (p.Asn411=) c.1074C>T (p.Asn358=) | gnomAD v4 |
| 1 | g.173903994G>C | CA343772507 | SERPINC1 | c.1290C>G (p.Asn430Lys) c.675C>G (p.Asn225Lys) c.1146C>G (p.Asn382Lys) c.1413C>G (p.Asn471Lys) c.1371C>G (p.Asn457Lys) c.1269C>G (p.Asn423Lys) c.1233C>G (p.Asn411Lys) c.1074C>G (p.Asn358Lys) | |
| 1 | g.173903994G= | CA1148321008 | SERPINC1 | c.1290C= (p.Asn430=) c.675C= (p.Asn225=) c.1146C= (p.Asn382=) c.1413C= (p.Asn471=) c.1371C= (p.Asn457=) c.1269C= (p.Asn423=) c.1233C= (p.Asn411=) c.1074C= (p.Asn358=) | |
| 1 | g.173903994G>T | CA1251219 | SERPINC1 | c.1290C>A (p.Asn430Lys) c.675C>A (p.Asn225Lys) c.1146C>A (p.Asn382Lys) c.1413C>A (p.Asn471Lys) c.1371C>A (p.Asn457Lys) c.1269C>A (p.Asn423Lys) c.1233C>A (p.Asn411Lys) c.1074C>A (p.Asn358Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173903995T>A | CA343772512 | SERPINC1 | c.1289A>T (p.Asn430Ile) c.674A>T (p.Asn225Ile) c.1145A>T (p.Asn382Ile) c.1412A>T (p.Asn471Ile) c.1370A>T (p.Asn457Ile) c.1268A>T (p.Asn423Ile) c.1232A>T (p.Asn411Ile) c.1073A>T (p.Asn358Ile) | |
| 1 | g.173903995T>C | CA343772513 | SERPINC1 | c.1289A>G (p.Asn430Ser) c.674A>G (p.Asn225Ser) c.1145A>G (p.Asn382Ser) c.1412A>G (p.Asn471Ser) c.1370A>G (p.Asn457Ser) c.1268A>G (p.Asn423Ser) c.1232A>G (p.Asn411Ser) c.1073A>G (p.Asn358Ser) | |
| 1 | g.173903995T>G | CA343772515 | SERPINC1 | c.1289A>C (p.Asn430Thr) c.674A>C (p.Asn225Thr) c.1145A>C (p.Asn382Thr) c.1412A>C (p.Asn471Thr) c.1370A>C (p.Asn457Thr) c.1268A>C (p.Asn423Thr) c.1232A>C (p.Asn411Thr) c.1073A>C (p.Asn358Thr) | |
| 1 | g.173903996T>A | CA343772518 | SERPINC1 | c.1288A>T (p.Asn430Tyr) c.673A>T (p.Asn225Tyr) c.1144A>T (p.Asn382Tyr) c.1411A>T (p.Asn471Tyr) c.1369A>T (p.Asn457Tyr) c.1267A>T (p.Asn423Tyr) c.1231A>T (p.Asn411Tyr) c.1072A>T (p.Asn358Tyr) | |
| 1 | g.173903996T>C | CA343772520 | SERPINC1 | c.1288A>G (p.Asn430Asp) c.673A>G (p.Asn225Asp) c.1144A>G (p.Asn382Asp) c.1411A>G (p.Asn471Asp) c.1369A>G (p.Asn457Asp) c.1267A>G (p.Asn423Asp) c.1231A>G (p.Asn411Asp) c.1072A>G (p.Asn358Asp) | gnomAD v4 |
| 1 | g.173903996T>G | CA343772522 | SERPINC1 | c.1288A>C (p.Asn430His) c.673A>C (p.Asn225His) c.1144A>C (p.Asn382His) c.1411A>C (p.Asn471His) c.1369A>C (p.Asn457His) c.1267A>C (p.Asn423His) c.1231A>C (p.Asn411His) c.1072A>C (p.Asn358His) | |
| 1 | g.173903997G>A | CA1251220 | SERPINC1 | c.1287C>T (p.Pro429=) c.672C>T (p.Pro224=) c.1143C>T (p.Pro381=) c.1410C>T (p.Pro470=) c.1368C>T (p.Pro456=) c.1266C>T (p.Pro422=) c.1230C>T (p.Pro410=) c.1071C>T (p.Pro357=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173903997G>C | CA421821529 | SERPINC1 | c.1287C>G (p.Pro429=) c.672C>G (p.Pro224=) c.1143C>G (p.Pro381=) c.1410C>G (p.Pro470=) c.1368C>G (p.Pro456=) c.1266C>G (p.Pro422=) c.1230C>G (p.Pro410=) c.1071C>G (p.Pro357=) | |
| 1 | g.173903997G= | CA1207934382 | SERPINC1 | c.1287C= (p.Pro429=) c.672C= (p.Pro224=) c.1143C= (p.Pro381=) c.1410C= (p.Pro470=) c.1368C= (p.Pro456=) c.1266C= (p.Pro422=) c.1230C= (p.Pro410=) c.1071C= (p.Pro357=) | |
| 1 | g.173903997G>T | CA421821531 | SERPINC1 | c.1287C>A (p.Pro429=) c.672C>A (p.Pro224=) c.1143C>A (p.Pro381=) c.1410C>A (p.Pro470=) c.1368C>A (p.Pro456=) c.1266C>A (p.Pro422=) c.1230C>A (p.Pro410=) c.1071C>A (p.Pro357=) | |
| 1 | g.173903998G>A | CA343772528 | SERPINC1 | c.1286C>T (p.Pro429Leu) c.671C>T (p.Pro224Leu) c.1142C>T (p.Pro381Leu) c.1409C>T (p.Pro470Leu) c.1367C>T (p.Pro456Leu) c.1265C>T (p.Pro422Leu) c.1229C>T (p.Pro410Leu) c.1070C>T (p.Pro357Leu) | |
| 1 | g.173903998G>C | CA343772530 | SERPINC1 | c.1286C>G (p.Pro429Arg) c.671C>G (p.Pro224Arg) c.1142C>G (p.Pro381Arg) c.1409C>G (p.Pro470Arg) c.1367C>G (p.Pro456Arg) c.1265C>G (p.Pro422Arg) c.1229C>G (p.Pro410Arg) c.1070C>G (p.Pro357Arg) | |
| 1 | g.173903998G>T | CA343772532 | SERPINC1 | c.1286C>A (p.Pro429His) c.671C>A (p.Pro224His) c.1142C>A (p.Pro381His) c.1409C>A (p.Pro470His) c.1367C>A (p.Pro456His) c.1265C>A (p.Pro422His) c.1229C>A (p.Pro410His) c.1070C>A (p.Pro357His) | |
| 1 | g.173903999G>A | CA343772539 | SERPINC1 | c.1285C>T (p.Pro429Ser) c.670C>T (p.Pro224Ser) c.1141C>T (p.Pro381Ser) c.1408C>T (p.Pro470Ser) c.1366C>T (p.Pro456Ser) c.1264C>T (p.Pro422Ser) c.1228C>T (p.Pro410Ser) c.1069C>T (p.Pro357Ser) | |
| 1 | g.173903999G>C | CA343772535 | SERPINC1 | c.1285C>G (p.Pro429Ala) c.670C>G (p.Pro224Ala) c.1141C>G (p.Pro381Ala) c.1408C>G (p.Pro470Ala) c.1366C>G (p.Pro456Ala) c.1264C>G (p.Pro422Ala) c.1228C>G (p.Pro410Ala) c.1069C>G (p.Pro357Ala) | |
| 1 | g.173903999G>T | CA343772537 | SERPINC1 | c.1285C>A (p.Pro429Thr) c.670C>A (p.Pro224Thr) c.1141C>A (p.Pro381Thr) c.1408C>A (p.Pro470Thr) c.1366C>A (p.Pro456Thr) c.1264C>A (p.Pro422Thr) c.1228C>A (p.Pro410Thr) c.1069C>A (p.Pro357Thr) | |
| 1 | g.173904000G>A | CA421821535 | SERPINC1 | c.1284C>T (p.Asn428=) c.669C>T (p.Asn223=) c.1140C>T (p.Asn380=) c.1407C>T (p.Asn469=) c.1365C>T (p.Asn455=) c.1263C>T (p.Asn421=) c.1227C>T (p.Asn409=) c.1068C>T (p.Asn356=) | ClinVar gnomAD v4 |
| 1 | g.173904000G>C | CA343772542 | SERPINC1 | c.1284C>G (p.Asn428Lys) c.669C>G (p.Asn223Lys) c.1140C>G (p.Asn380Lys) c.1407C>G (p.Asn469Lys) c.1365C>G (p.Asn455Lys) c.1263C>G (p.Asn421Lys) c.1227C>G (p.Asn409Lys) c.1068C>G (p.Asn356Lys) | ClinVar gnomAD v4 |
| 1 | g.173904000G>T | CA343772545 | SERPINC1 | c.1284C>A (p.Asn428Lys) c.669C>A (p.Asn223Lys) c.1140C>A (p.Asn380Lys) c.1407C>A (p.Asn469Lys) c.1365C>A (p.Asn455Lys) c.1263C>A (p.Asn421Lys) c.1227C>A (p.Asn409Lys) c.1068C>A (p.Asn356Lys) | COSMIC |
| 1 | g.173904001T>A | CA343772548 | SERPINC1 | c.1283A>T (p.Asn428Ile) c.668A>T (p.Asn223Ile) c.1139A>T (p.Asn380Ile) c.1406A>T (p.Asn469Ile) c.1364A>T (p.Asn455Ile) c.1262A>T (p.Asn421Ile) c.1226A>T (p.Asn409Ile) c.1067A>T (p.Asn356Ile) | |
| 1 | g.173904001T>C | CA343772551 | SERPINC1 | c.1283A>G (p.Asn428Ser) c.668A>G (p.Asn223Ser) c.1139A>G (p.Asn380Ser) c.1406A>G (p.Asn469Ser) c.1364A>G (p.Asn455Ser) c.1262A>G (p.Asn421Ser) c.1226A>G (p.Asn409Ser) c.1067A>G (p.Asn356Ser) | |
| 1 | g.173904001T>G | CA343772553 | SERPINC1 | c.1283A>C (p.Asn428Thr) c.668A>C (p.Asn223Thr) c.1139A>C (p.Asn380Thr) c.1406A>C (p.Asn469Thr) c.1364A>C (p.Asn455Thr) c.1262A>C (p.Asn421Thr) c.1226A>C (p.Asn409Thr) c.1067A>C (p.Asn356Thr) | |
| 1 | g.173904002T>A | CA343772556 | SERPINC1 | c.1282A>T (p.Asn428Tyr) c.667A>T (p.Asn223Tyr) c.1138A>T (p.Asn380Tyr) c.1405A>T (p.Asn469Tyr) c.1363A>T (p.Asn455Tyr) c.1261A>T (p.Asn421Tyr) c.1225A>T (p.Asn409Tyr) c.1066A>T (p.Asn356Tyr) | |
| 1 | g.173904002T>C | CA343772558 | SERPINC1 | c.1282A>G (p.Asn428Asp) c.667A>G (p.Asn223Asp) c.1138A>G (p.Asn380Asp) c.1405A>G (p.Asn469Asp) c.1363A>G (p.Asn455Asp) c.1261A>G (p.Asn421Asp) c.1225A>G (p.Asn409Asp) c.1066A>G (p.Asn356Asp) | |
| 1 | g.173904002T>G | CA343772561 | SERPINC1 | c.1282A>C (p.Asn428His) c.667A>C (p.Asn223His) c.1138A>C (p.Asn380His) c.1405A>C (p.Asn469His) c.1363A>C (p.Asn455His) c.1261A>C (p.Asn421His) c.1225A>C (p.Asn409His) c.1066A>C (p.Asn356His) | |
| 1 | g.173904003T>A | CA421821539 | SERPINC1 | c.1281A>T (p.Leu427=) c.666A>T (p.Leu222=) c.1137A>T (p.Leu379=) c.1404A>T (p.Leu468=) c.1362A>T (p.Leu454=) c.1260A>T (p.Leu420=) c.1224A>T (p.Leu408=) c.1065A>T (p.Leu355=) | |
| 1 | g.173904003T>C | CA421821541 | SERPINC1 | c.1281A>G (p.Leu427=) c.666A>G (p.Leu222=) c.1137A>G (p.Leu379=) c.1404A>G (p.Leu468=) c.1362A>G (p.Leu454=) c.1260A>G (p.Leu420=) c.1224A>G (p.Leu408=) c.1065A>G (p.Leu355=) |