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.173903919dup | CA2582342985 | SERPINC1 | c.1367dup (p.Arg457GlnfsTer8) c.752dup (p.Arg252GlnfsTer8) c.1223dup (p.Arg409GlnfsTer8) c.1490dup (p.Arg498GlnfsTer8) c.1448dup (p.Arg484GlnfsTer8) c.1346dup (p.Arg450GlnfsTer8) c.1310dup (p.Arg438GlnfsTer8) c.1151dup (p.Arg385GlnfsTer8) | |
| 1 | g.173903919del | CA2586967699 | SERPINC1 | c.1367del (p.Gly456AlafsTer3) c.752del (p.Gly251AlafsTer3) c.1223del (p.Gly408AlafsTer3) c.1490del (p.Gly497AlafsTer3) c.1448del (p.Gly483AlafsTer3) c.1346del (p.Gly449AlafsTer3) c.1310del (p.Gly437AlafsTer3) c.1151del (p.Gly384AlafsTer3) | |
| 1 | g.173903919C>A | CA343772109 | SERPINC1 | c.1365G>T (p.Met455Ile) c.750G>T (p.Met250Ile) c.1221G>T (p.Met407Ile) c.1488G>T (p.Met496Ile) c.1446G>T (p.Met482Ile) c.1344G>T (p.Met448Ile) c.1308G>T (p.Met436Ile) c.1149G>T (p.Met383Ile) | |
| 1 | g.173903919C= | CA1207934364 | SERPINC1 | c.1365G= (p.Met455=) c.750G= (p.Met250=) c.1221G= (p.Met407=) c.1488G= (p.Met496=) c.1446G= (p.Met482=) c.1344G= (p.Met448=) c.1308G= (p.Met436=) c.1149G= (p.Met383=) | |
| 1 | g.173903919C>G | CA343772111 | SERPINC1 | c.1365G>C (p.Met455Ile) c.750G>C (p.Met250Ile) c.1221G>C (p.Met407Ile) c.1488G>C (p.Met496Ile) c.1446G>C (p.Met482Ile) c.1344G>C (p.Met448Ile) c.1308G>C (p.Met436Ile) c.1149G>C (p.Met383Ile) | |
| 1 | g.173903919C>T | CA343772112 | SERPINC1 | c.1365G>A (p.Met455Ile) c.750G>A (p.Met250Ile) c.1221G>A (p.Met407Ile) c.1488G>A (p.Met496Ile) c.1446G>A (p.Met482Ile) c.1344G>A (p.Met448Ile) c.1308G>A (p.Met436Ile) c.1149G>A (p.Met383Ile) | dbSNP |
| 1 | g.173903920A>C | CA343772119 | SERPINC1 | c.1364T>G (p.Met455Arg) c.749T>G (p.Met250Arg) c.1220T>G (p.Met407Arg) c.1487T>G (p.Met496Arg) c.1445T>G (p.Met482Arg) c.1343T>G (p.Met448Arg) c.1307T>G (p.Met436Arg) c.1148T>G (p.Met383Arg) | |
| 1 | g.173903920A>G | CA343772115 | SERPINC1 | c.1364T>C (p.Met455Thr) c.749T>C (p.Met250Thr) c.1220T>C (p.Met407Thr) c.1487T>C (p.Met496Thr) c.1445T>C (p.Met482Thr) c.1343T>C (p.Met448Thr) c.1307T>C (p.Met436Thr) c.1148T>C (p.Met383Thr) | |
| 1 | g.173903920A>T | CA343772117 | SERPINC1 | c.1364T>A (p.Met455Lys) c.749T>A (p.Met250Lys) c.1220T>A (p.Met407Lys) c.1487T>A (p.Met496Lys) c.1445T>A (p.Met482Lys) c.1343T>A (p.Met448Lys) c.1307T>A (p.Met436Lys) c.1148T>A (p.Met383Lys) | |
| 1 | g.173903921T>A | CA343772122 | SERPINC1 | c.1363A>T (p.Met455Leu) c.748A>T (p.Met250Leu) c.1219A>T (p.Met407Leu) c.1486A>T (p.Met496Leu) c.1444A>T (p.Met482Leu) c.1342A>T (p.Met448Leu) c.1306A>T (p.Met436Leu) c.1147A>T (p.Met383Leu) | |
| 1 | g.173903921T>C | CA343772124 | SERPINC1 | c.1363A>G (p.Met455Val) c.748A>G (p.Met250Val) c.1219A>G (p.Met407Val) c.1486A>G (p.Met496Val) c.1444A>G (p.Met482Val) c.1342A>G (p.Met448Val) c.1306A>G (p.Met436Val) c.1147A>G (p.Met383Val) | |
| 1 | g.173903921T>G | CA343772126 | SERPINC1 | c.1363A>C (p.Met455Leu) c.748A>C (p.Met250Leu) c.1219A>C (p.Met407Leu) c.1486A>C (p.Met496Leu) c.1444A>C (p.Met482Leu) c.1342A>C (p.Met448Leu) c.1306A>C (p.Met436Leu) c.1147A>C (p.Met383Leu) | |
| 1 | g.173903922G>A | CA421821273 | SERPINC1 | c.1362C>T (p.Phe454=) c.747C>T (p.Phe249=) c.1218C>T (p.Phe406=) c.1485C>T (p.Phe495=) c.1443C>T (p.Phe481=) c.1341C>T (p.Phe447=) c.1305C>T (p.Phe435=) c.1146C>T (p.Phe382=) | |
| 1 | g.173903922G>C | CA343772128 | SERPINC1 | c.1362C>G (p.Phe454Leu) c.747C>G (p.Phe249Leu) c.1218C>G (p.Phe406Leu) c.1485C>G (p.Phe495Leu) c.1443C>G (p.Phe481Leu) c.1341C>G (p.Phe447Leu) c.1305C>G (p.Phe435Leu) c.1146C>G (p.Phe382Leu) | |
| 1 | g.173903922G>T | CA343772129 | SERPINC1 | c.1362C>A (p.Phe454Leu) c.747C>A (p.Phe249Leu) c.1218C>A (p.Phe406Leu) c.1485C>A (p.Phe495Leu) c.1443C>A (p.Phe481Leu) c.1341C>A (p.Phe447Leu) c.1305C>A (p.Phe435Leu) c.1146C>A (p.Phe382Leu) | |
| 1 | g.173903923A= | CA1207934365 | SERPINC1 | c.1361T= (p.Phe454=) c.746T= (p.Phe249=) c.1217T= (p.Phe406=) c.1484T= (p.Phe495=) c.1442T= (p.Phe481=) c.1340T= (p.Phe447=) c.1304T= (p.Phe435=) c.1145T= (p.Phe382=) | |
| 1 | g.173903923A>C | CA343772133 | SERPINC1 | c.1361T>G (p.Phe454Cys) c.746T>G (p.Phe249Cys) c.1217T>G (p.Phe406Cys) c.1484T>G (p.Phe495Cys) c.1442T>G (p.Phe481Cys) c.1340T>G (p.Phe447Cys) c.1304T>G (p.Phe435Cys) c.1145T>G (p.Phe382Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173903923A>G | CA343772136 | SERPINC1 | c.1361T>C (p.Phe454Ser) c.746T>C (p.Phe249Ser) c.1217T>C (p.Phe406Ser) c.1484T>C (p.Phe495Ser) c.1442T>C (p.Phe481Ser) c.1340T>C (p.Phe447Ser) c.1304T>C (p.Phe435Ser) c.1145T>C (p.Phe382Ser) | |
| 1 | g.173903923A>T | CA343772134 | SERPINC1 | c.1361T>A (p.Phe454Tyr) c.746T>A (p.Phe249Tyr) c.1217T>A (p.Phe406Tyr) c.1484T>A (p.Phe495Tyr) c.1442T>A (p.Phe481Tyr) c.1340T>A (p.Phe447Tyr) c.1304T>A (p.Phe435Tyr) c.1145T>A (p.Phe382Tyr) | |
| 1 | g.173903924del | CA2579753960 | SERPINC1 | c.1361del (p.Phe454SerfsTer5) c.746del (p.Phe249SerfsTer5) c.1217del (p.Phe406SerfsTer5) c.1484del (p.Phe495SerfsTer5) c.1442del (p.Phe481SerfsTer5) c.1340del (p.Phe447SerfsTer5) c.1304del (p.Phe435SerfsTer5) c.1145del (p.Phe382SerfsTer5) | |
| 1 | g.173903924A>C | CA343772139 | SERPINC1 | c.1360T>G (p.Phe454Val) c.745T>G (p.Phe249Val) c.1216T>G (p.Phe406Val) c.1483T>G (p.Phe495Val) c.1441T>G (p.Phe481Val) c.1339T>G (p.Phe447Val) c.1303T>G (p.Phe435Val) c.1144T>G (p.Phe382Val) | |
| 1 | g.173903924A>G | CA343772142 | SERPINC1 | c.1360T>C (p.Phe454Leu) c.745T>C (p.Phe249Leu) c.1216T>C (p.Phe406Leu) c.1483T>C (p.Phe495Leu) c.1441T>C (p.Phe481Leu) c.1339T>C (p.Phe447Leu) c.1303T>C (p.Phe435Leu) c.1144T>C (p.Phe382Leu) | |
| 1 | g.173903924A>T | CA343772140 | SERPINC1 | c.1360T>A (p.Phe454Ile) c.745T>A (p.Phe249Ile) c.1216T>A (p.Phe406Ile) c.1483T>A (p.Phe495Ile) c.1441T>A (p.Phe481Ile) c.1339T>A (p.Phe447Ile) c.1303T>A (p.Phe435Ile) c.1144T>A (p.Phe382Ile) | |
| 1 | g.173903925G>A | CA421821278 | SERPINC1 | c.1359C>T (p.Ile453=) c.744C>T (p.Ile248=) c.1215C>T (p.Ile405=) c.1482C>T (p.Ile494=) c.1440C>T (p.Ile480=) c.1338C>T (p.Ile446=) c.1302C>T (p.Ile434=) c.1143C>T (p.Ile381=) | |
| 1 | g.173903925G>C | CA343772144 | SERPINC1 | c.1359C>G (p.Ile453Met) c.744C>G (p.Ile248Met) c.1215C>G (p.Ile405Met) c.1482C>G (p.Ile494Met) c.1440C>G (p.Ile480Met) c.1338C>G (p.Ile446Met) c.1302C>G (p.Ile434Met) c.1143C>G (p.Ile381Met) | dbSNP |
| 1 | g.173903925G= | CA1207934366 | SERPINC1 | c.1359C= (p.Ile453=) c.744C= (p.Ile248=) c.1215C= (p.Ile405=) c.1482C= (p.Ile494=) c.1440C= (p.Ile480=) c.1338C= (p.Ile446=) c.1302C= (p.Ile434=) c.1143C= (p.Ile381=) | |
| 1 | g.173903925G>T | CA421821279 | SERPINC1 | c.1359C>A (p.Ile453=) c.744C>A (p.Ile248=) c.1215C>A (p.Ile405=) c.1482C>A (p.Ile494=) c.1440C>A (p.Ile480=) c.1338C>A (p.Ile446=) c.1302C>A (p.Ile434=) c.1143C>A (p.Ile381=) | |
| 1 | g.173903926A>C | CA343772146 | SERPINC1 | c.1358T>G (p.Ile453Ser) c.743T>G (p.Ile248Ser) c.1214T>G (p.Ile405Ser) c.1481T>G (p.Ile494Ser) c.1439T>G (p.Ile480Ser) c.1337T>G (p.Ile446Ser) c.1301T>G (p.Ile434Ser) c.1142T>G (p.Ile381Ser) | |
| 1 | g.173903926A>G | CA343772148 | SERPINC1 | c.1358T>C (p.Ile453Thr) c.743T>C (p.Ile248Thr) c.1214T>C (p.Ile405Thr) c.1481T>C (p.Ile494Thr) c.1439T>C (p.Ile480Thr) c.1337T>C (p.Ile446Thr) c.1301T>C (p.Ile434Thr) c.1142T>C (p.Ile381Thr) | ClinVar |
| 1 | g.173903926A>T | CA343772150 | SERPINC1 | c.1358T>A (p.Ile453Asn) c.743T>A (p.Ile248Asn) c.1214T>A (p.Ile405Asn) c.1481T>A (p.Ile494Asn) c.1439T>A (p.Ile480Asn) c.1337T>A (p.Ile446Asn) c.1301T>A (p.Ile434Asn) c.1142T>A (p.Ile381Asn) | |
| 1 | g.173903926delinsTTAT | CA2695199917 | SERPINC1 | c.1358delinsATAA (p.Ile453delinsAsnAsn) c.743delinsATAA (p.Ile248delinsAsnAsn) c.1214delinsATAA (p.Ile405delinsAsnAsn) c.1481delinsATAA (p.Ile494delinsAsnAsn) c.1439delinsATAA (p.Ile480delinsAsnAsn) c.1337delinsATAA (p.Ile446delinsAsnAsn) c.1301delinsATAA (p.Ile434delinsAsnAsn) c.1142delinsATAA (p.Ile381delinsAsnAsn) | ClinVar |
| 1 | g.173903927T>A | CA343772152 | SERPINC1 | c.1357A>T (p.Ile453Phe) c.742A>T (p.Ile248Phe) c.1213A>T (p.Ile405Phe) c.1480A>T (p.Ile494Phe) c.1438A>T (p.Ile480Phe) c.1336A>T (p.Ile446Phe) c.1300A>T (p.Ile434Phe) c.1141A>T (p.Ile381Phe) | |
| 1 | g.173903927T>C | CA343772153 | SERPINC1 | c.1357A>G (p.Ile453Val) c.742A>G (p.Ile248Val) c.1213A>G (p.Ile405Val) c.1480A>G (p.Ile494Val) c.1438A>G (p.Ile480Val) c.1336A>G (p.Ile446Val) c.1300A>G (p.Ile434Val) c.1141A>G (p.Ile381Val) | |
| 1 | g.173903927T>G | CA343772154 | SERPINC1 | c.1357A>C (p.Ile453Leu) c.742A>C (p.Ile248Leu) c.1213A>C (p.Ile405Leu) c.1480A>C (p.Ile494Leu) c.1438A>C (p.Ile480Leu) c.1336A>C (p.Ile446Leu) c.1300A>C (p.Ile434Leu) c.1141A>C (p.Ile381Leu) | |
| 1 | g.173903927T= | CA1207934367 | SERPINC1 | c.1357A= (p.Ile453=) c.742A= (p.Ile248=) c.1213A= (p.Ile405=) c.1480A= (p.Ile494=) c.1438A= (p.Ile480=) c.1336A= (p.Ile446=) c.1300A= (p.Ile434=) c.1141A= (p.Ile381=) | |
| 1 | g.173903927dup | CA2586967700 | SERPINC1 | c.1357dup (p.Ile453AsnfsTer12) c.742dup (p.Ile248AsnfsTer12) c.1213dup (p.Ile405AsnfsTer12) c.1480dup (p.Ile494AsnfsTer12) c.1438dup (p.Ile480AsnfsTer12) c.1336dup (p.Ile446AsnfsTer12) c.1300dup (p.Ile434AsnfsTer12) c.1141dup (p.Ile381AsnfsTer12) | |
| 1 | g.173903927_173903928insTAA | CA527601310 | SERPINC1 | c.1356_1357insTTA (p.Ile452_Ile453insLeu) c.741_742insTTA (p.Ile247_Ile248insLeu) c.1212_1213insTTA (p.Ile404_Ile405insLeu) c.1479_1480insTTA (p.Ile493_Ile494insLeu) c.1437_1438insTTA (p.Ile479_Ile480insLeu) c.1335_1336insTTA (p.Ile445_Ile446insLeu) c.1299_1300insTTA (p.Ile433_Ile434insLeu) c.1140_1141insTTA (p.Ile380_Ile381insLeu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173903928A>C | CA343772156 | SERPINC1 | c.1356T>G (p.Ile452Met) c.741T>G (p.Ile247Met) c.1212T>G (p.Ile404Met) c.1479T>G (p.Ile493Met) c.1437T>G (p.Ile479Met) c.1335T>G (p.Ile445Met) c.1299T>G (p.Ile433Met) c.1140T>G (p.Ile380Met) | |
| 1 | g.173903928A>G | CA421821281 | SERPINC1 | c.1356T>C (p.Ile452=) c.741T>C (p.Ile247=) c.1212T>C (p.Ile404=) c.1479T>C (p.Ile493=) c.1437T>C (p.Ile479=) c.1335T>C (p.Ile445=) c.1299T>C (p.Ile433=) c.1140T>C (p.Ile380=) | |
| 1 | g.173903928A>T | CA421821280 | SERPINC1 | c.1356T>A (p.Ile452=) c.741T>A (p.Ile247=) c.1212T>A (p.Ile404=) c.1479T>A (p.Ile493=) c.1437T>A (p.Ile479=) c.1335T>A (p.Ile445=) c.1299T>A (p.Ile433=) c.1140T>A (p.Ile380=) | |
| 1 | g.173903929A= | CA1207934368 | SERPINC1 | c.1355T= (p.Ile452=) c.740T= (p.Ile247=) c.1211T= (p.Ile404=) c.1478T= (p.Ile493=) c.1436T= (p.Ile479=) c.1334T= (p.Ile445=) c.1298T= (p.Ile433=) c.1139T= (p.Ile380=) | |
| 1 | g.173903929A>C | CA343772159 | SERPINC1 | c.1355T>G (p.Ile452Ser) c.740T>G (p.Ile247Ser) c.1211T>G (p.Ile404Ser) c.1478T>G (p.Ile493Ser) c.1436T>G (p.Ile479Ser) c.1334T>G (p.Ile445Ser) c.1298T>G (p.Ile433Ser) c.1139T>G (p.Ile380Ser) | |
| 1 | g.173903929A>G | CA1251214 | SERPINC1 | c.1355T>C (p.Ile452Thr) c.740T>C (p.Ile247Thr) c.1211T>C (p.Ile404Thr) c.1478T>C (p.Ile493Thr) c.1436T>C (p.Ile479Thr) c.1334T>C (p.Ile445Thr) c.1298T>C (p.Ile433Thr) c.1139T>C (p.Ile380Thr) | ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.173903929A>T | CA343772162 | SERPINC1 | c.1355T>A (p.Ile452Asn) c.740T>A (p.Ile247Asn) c.1211T>A (p.Ile404Asn) c.1478T>A (p.Ile493Asn) c.1436T>A (p.Ile479Asn) c.1334T>A (p.Ile445Asn) c.1298T>A (p.Ile433Asn) c.1139T>A (p.Ile380Asn) | |
| 1 | g.173903930T>A | CA343772169 | SERPINC1 | c.1354A>T (p.Ile452Phe) c.739A>T (p.Ile247Phe) c.1210A>T (p.Ile404Phe) c.1477A>T (p.Ile493Phe) c.1435A>T (p.Ile479Phe) c.1333A>T (p.Ile445Phe) c.1297A>T (p.Ile433Phe) c.1138A>T (p.Ile380Phe) | |
| 1 | g.173903930T>C | CA343772167 | SERPINC1 | c.1354A>G (p.Ile452Val) c.739A>G (p.Ile247Val) c.1210A>G (p.Ile404Val) c.1477A>G (p.Ile493Val) c.1435A>G (p.Ile479Val) c.1333A>G (p.Ile445Val) c.1297A>G (p.Ile433Val) c.1138A>G (p.Ile380Val) | gnomAD v4 COSMIC |
| 1 | g.173903930T>G | CA343772166 | SERPINC1 | c.1354A>C (p.Ile452Leu) c.739A>C (p.Ile247Leu) c.1210A>C (p.Ile404Leu) c.1477A>C (p.Ile493Leu) c.1435A>C (p.Ile479Leu) c.1333A>C (p.Ile445Leu) c.1297A>C (p.Ile433Leu) c.1138A>C (p.Ile380Leu) | |
| 1 | g.173903931A>C | CA421821282 | SERPINC1 | c.1353T>G (p.Thr451=) c.738T>G (p.Thr246=) c.1209T>G (p.Thr403=) c.1476T>G (p.Thr492=) c.1434T>G (p.Thr478=) c.1332T>G (p.Thr444=) c.1296T>G (p.Thr432=) c.1137T>G (p.Thr379=) | |
| 1 | g.173903931A>G | CA421821283 | SERPINC1 | c.1353T>C (p.Thr451=) c.738T>C (p.Thr246=) c.1209T>C (p.Thr403=) c.1476T>C (p.Thr492=) c.1434T>C (p.Thr478=) c.1332T>C (p.Thr444=) c.1296T>C (p.Thr432=) c.1137T>C (p.Thr379=) | |
| 1 | g.173903931A>T | CA421821284 | SERPINC1 | c.1353T>A (p.Thr451=) c.738T>A (p.Thr246=) c.1209T>A (p.Thr403=) c.1476T>A (p.Thr492=) c.1434T>A (p.Thr478=) c.1332T>A (p.Thr444=) c.1296T>A (p.Thr432=) c.1137T>A (p.Thr379=) |