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.173908360_173915405del | CA2573051419 | SERPINC1 | c.42-486_1154-846del c.42-486_560-867del c.-272-219_1010-846del c.42-486_1277-846del c.123-486_1235-846del c.42-486_1133-846del c.42-486_1097-846del c.42-486_938-846del | ClinVar |
| 1 | g.173909563G>A | CA343773478 | SERPINC1 | c.1142C>T (p.Ser381Phe) c.560-2070C>T (n.560-2070C>T) c.998C>T (p.Ser333Phe) c.1265C>T (p.Ser422Phe) c.1223C>T (p.Ser408Phe) c.1121C>T (p.Ser374Phe) c.1085C>T (p.Ser362Phe) c.926C>T (p.Ser309Phe) | |
| 1 | g.173909563G>C | CA343773479 | SERPINC1 | c.1142C>G (p.Ser381Cys) c.560-2070C>G (n.560-2070C>G) c.998C>G (p.Ser333Cys) c.1265C>G (p.Ser422Cys) c.1223C>G (p.Ser408Cys) c.1121C>G (p.Ser374Cys) c.1085C>G (p.Ser362Cys) c.926C>G (p.Ser309Cys) | dbSNP COSMIC |
| 1 | g.173909563G= | CA1207936896 | SERPINC1 | c.1142C= (p.Ser381=) c.560-2070C= (n.560-2070C=) c.998C= (p.Ser333=) c.1265C= (p.Ser422=) c.1223C= (p.Ser408=) c.1121C= (p.Ser374=) c.1085C= (p.Ser362=) c.926C= (p.Ser309=) | |
| 1 | g.173909563G>T | CA343773480 | SERPINC1 | c.1142C>A (p.Ser381Tyr) c.560-2070C>A (n.560-2070C>A) c.998C>A (p.Ser333Tyr) c.1265C>A (p.Ser422Tyr) c.1223C>A (p.Ser408Tyr) c.1121C>A (p.Ser374Tyr) c.1085C>A (p.Ser362Tyr) c.926C>A (p.Ser309Tyr) | gnomAD v4 |
| 1 | g.173909564A= | CA1141581216 | SERPINC1 | c.1141T= (p.Ser381=) c.560-2071T= (n.560-2071T=) c.997T= (p.Ser333=) c.1264T= (p.Ser422=) c.1222T= (p.Ser408=) c.1120T= (p.Ser374=) c.1084T= (p.Ser362=) c.925T= (p.Ser309=) | |
| 1 | g.173909564A>C | CA343773481 | SERPINC1 | c.1141T>G (p.Ser381Ala) c.560-2071T>G (n.560-2071T>G) c.997T>G (p.Ser333Ala) c.1264T>G (p.Ser422Ala) c.1222T>G (p.Ser408Ala) c.1120T>G (p.Ser374Ala) c.1084T>G (p.Ser362Ala) c.925T>G (p.Ser309Ala) | |
| 1 | g.173909564A>G | CA210783 | SERPINC1 | c.1141T>C (p.Ser381Pro) c.560-2071T>C (n.560-2071T>C) c.997T>C (p.Ser333Pro) c.1264T>C (p.Ser422Pro) c.1222T>C (p.Ser408Pro) c.1120T>C (p.Ser374Pro) c.1084T>C (p.Ser362Pro) c.925T>C (p.Ser309Pro) | ClinVar dbSNP |
| 1 | g.173909564A>T | CA343773482 | SERPINC1 | c.1141T>A (p.Ser381Thr) c.560-2071T>A (n.560-2071T>A) c.997T>A (p.Ser333Thr) c.1264T>A (p.Ser422Thr) c.1222T>A (p.Ser408Thr) c.1120T>A (p.Ser374Thr) c.1084T>A (p.Ser362Thr) c.925T>A (p.Ser309Thr) | |
| 1 | g.173909565C>A | CA343773483 | SERPINC1 | c.1140G>T (p.Lys380Asn) c.560-2072G>T (n.560-2072G>T) c.996G>T (p.Lys332Asn) c.1263G>T (p.Lys421Asn) c.1221G>T (p.Lys407Asn) c.1119G>T (p.Lys373Asn) c.1083G>T (p.Lys361Asn) c.924G>T (p.Lys308Asn) | |
| 1 | g.173909565C= | CA1207936897 | SERPINC1 | c.1140G= (p.Lys380=) c.560-2072G= (n.560-2072G=) c.996G= (p.Lys332=) c.1263G= (p.Lys421=) c.1221G= (p.Lys407=) c.1119G= (p.Lys373=) c.1083G= (p.Lys361=) c.924G= (p.Lys308=) | |
| 1 | g.173909565C>G | CA343773484 | SERPINC1 | c.1140G>C (p.Lys380Asn) c.560-2072G>C (n.560-2072G>C) c.996G>C (p.Lys332Asn) c.1263G>C (p.Lys421Asn) c.1221G>C (p.Lys407Asn) c.1119G>C (p.Lys373Asn) c.1083G>C (p.Lys361Asn) c.924G>C (p.Lys308Asn) | |
| 1 | g.173909565C>T | CA421942784 | SERPINC1 | c.1140G>A (p.Lys380=) c.560-2072G>A (n.560-2072G>A) c.996G>A (p.Lys332=) c.1263G>A (p.Lys421=) c.1221G>A (p.Lys407=) c.1119G>A (p.Lys373=) c.1083G>A (p.Lys361=) c.924G>A (p.Lys308=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173909566T>A | CA343773485 | SERPINC1 | c.1139A>T (p.Lys380Met) c.560-2073A>T (n.560-2073A>T) c.995A>T (p.Lys332Met) c.1262A>T (p.Lys421Met) c.1220A>T (p.Lys407Met) c.1118A>T (p.Lys373Met) c.1082A>T (p.Lys361Met) c.923A>T (p.Lys308Met) | |
| 1 | g.173909566T>C | CA343773486 | SERPINC1 | c.1139A>G (p.Lys380Arg) c.560-2073A>G (n.560-2073A>G) c.995A>G (p.Lys332Arg) c.1262A>G (p.Lys421Arg) c.1220A>G (p.Lys407Arg) c.1118A>G (p.Lys373Arg) c.1082A>G (p.Lys361Arg) c.923A>G (p.Lys308Arg) | |
| 1 | g.173909566T>G | CA343773487 | SERPINC1 | c.1139A>C (p.Lys380Thr) c.560-2073A>C (n.560-2073A>C) c.995A>C (p.Lys332Thr) c.1262A>C (p.Lys421Thr) c.1220A>C (p.Lys407Thr) c.1118A>C (p.Lys373Thr) c.1082A>C (p.Lys361Thr) c.923A>C (p.Lys308Thr) | |
| 1 | g.173909567T>A | CA343773488 | SERPINC1 | c.1138A>T (p.Lys380Ter) c.560-2074A>T (n.560-2074A>T) c.994A>T (p.Lys332Ter) c.1261A>T (p.Lys421Ter) c.1219A>T (p.Lys407Ter) c.1117A>T (p.Lys373Ter) c.1081A>T (p.Lys361Ter) c.922A>T (p.Lys308Ter) | |
| 1 | g.173909567T>C | CA343773489 | SERPINC1 | c.1138A>G (p.Lys380Glu) c.560-2074A>G (n.560-2074A>G) c.994A>G (p.Lys332Glu) c.1261A>G (p.Lys421Glu) c.1219A>G (p.Lys407Glu) c.1117A>G (p.Lys373Glu) c.1081A>G (p.Lys361Glu) c.922A>G (p.Lys308Glu) | |
| 1 | g.173909567T>G | CA343773490 | SERPINC1 | c.1138A>C (p.Lys380Gln) c.560-2074A>C (n.560-2074A>C) c.994A>C (p.Lys332Gln) c.1261A>C (p.Lys421Gln) c.1219A>C (p.Lys407Gln) c.1117A>C (p.Lys373Gln) c.1081A>C (p.Lys361Gln) c.922A>C (p.Lys308Gln) | |
| 1 | g.173909568T>A | CA343773491 | SERPINC1 | c.1137A>T (p.Glu379Asp) c.560-2075A>T (n.560-2075A>T) c.993A>T (p.Glu331Asp) c.1260A>T (p.Glu420Asp) c.1218A>T (p.Glu406Asp) c.1116A>T (p.Glu372Asp) c.1080A>T (p.Glu360Asp) c.921A>T (p.Glu307Asp) | |
| 1 | g.173909568T>C | CA1251277 | SERPINC1 | c.1137A>G (p.Glu379=) c.560-2075A>G (n.560-2075A>G) c.993A>G (p.Glu331=) c.1260A>G (p.Glu420=) c.1218A>G (p.Glu406=) c.1116A>G (p.Glu372=) c.1080A>G (p.Glu360=) c.921A>G (p.Glu307=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173909568T>G | CA343773492 | SERPINC1 | c.1137A>C (p.Glu379Asp) c.560-2075A>C (n.560-2075A>C) c.993A>C (p.Glu331Asp) c.1260A>C (p.Glu420Asp) c.1218A>C (p.Glu406Asp) c.1116A>C (p.Glu372Asp) c.1080A>C (p.Glu360Asp) c.921A>C (p.Glu307Asp) | |
| 1 | g.173909568T= | CA1148245798 | SERPINC1 | c.1137A= (p.Glu379=) c.560-2075A= (n.560-2075A=) c.993A= (p.Glu331=) c.1260A= (p.Glu420=) c.1218A= (p.Glu406=) c.1116A= (p.Glu372=) c.1080A= (p.Glu360=) c.921A= (p.Glu307=) | |
| 1 | g.173909569T>A | CA343773494 | SERPINC1 | c.1136A>T (p.Glu379Val) c.560-2076A>T (n.560-2076A>T) c.992A>T (p.Glu331Val) c.1259A>T (p.Glu420Val) c.1217A>T (p.Glu406Val) c.1115A>T (p.Glu372Val) c.1079A>T (p.Glu360Val) c.920A>T (p.Glu307Val) | |
| 1 | g.173909569T>C | CA343773495 | SERPINC1 | c.1136A>G (p.Glu379Gly) c.560-2076A>G (n.560-2076A>G) c.992A>G (p.Glu331Gly) c.1259A>G (p.Glu420Gly) c.1217A>G (p.Glu406Gly) c.1115A>G (p.Glu372Gly) c.1079A>G (p.Glu360Gly) c.920A>G (p.Glu307Gly) | |
| 1 | g.173909569T>G | CA343773493 | SERPINC1 | c.1136A>C (p.Glu379Ala) c.560-2076A>C (n.560-2076A>C) c.992A>C (p.Glu331Ala) c.1259A>C (p.Glu420Ala) c.1217A>C (p.Glu406Ala) c.1115A>C (p.Glu372Ala) c.1079A>C (p.Glu360Ala) c.920A>C (p.Glu307Ala) | |
| 1 | g.173909570C>A | CA343773496 | SERPINC1 | c.1135G>T (p.Glu379Ter) c.560-2077G>T (n.560-2077G>T) c.991G>T (p.Glu331Ter) c.1258G>T (p.Glu420Ter) c.1216G>T (p.Glu406Ter) c.1114G>T (p.Glu372Ter) c.1078G>T (p.Glu360Ter) c.919G>T (p.Glu307Ter) | |
| 1 | g.173909570C= | CA1207936898 | SERPINC1 | c.1135G= (p.Glu379=) c.560-2077G= (n.560-2077G=) c.991G= (p.Glu331=) c.1258G= (p.Glu420=) c.1216G= (p.Glu406=) c.1114G= (p.Glu372=) c.1078G= (p.Glu360=) c.919G= (p.Glu307=) | |
| 1 | g.173909570C>G | CA343773497 | SERPINC1 | c.1135G>C (p.Glu379Gln) c.560-2077G>C (n.560-2077G>C) c.991G>C (p.Glu331Gln) c.1258G>C (p.Glu420Gln) c.1216G>C (p.Glu406Gln) c.1114G>C (p.Glu372Gln) c.1078G>C (p.Glu360Gln) c.919G>C (p.Glu307Gln) | dbSNP |
| 1 | g.173909570C>T | CA343773498 | SERPINC1 | c.1135G>A (p.Glu379Lys) c.560-2077G>A (n.560-2077G>A) c.991G>A (p.Glu331Lys) c.1258G>A (p.Glu420Lys) c.1216G>A (p.Glu406Lys) c.1114G>A (p.Glu372Lys) c.1078G>A (p.Glu360Lys) c.919G>A (p.Glu307Lys) | |
| 1 | g.173909571A= | CA1207936899 | SERPINC1 | c.1134T= (p.Pro378=) c.560-2078T= (n.560-2078T=) c.990T= (p.Pro330=) c.1257T= (p.Pro419=) c.1215T= (p.Pro405=) c.1113T= (p.Pro371=) c.1077T= (p.Pro359=) c.918T= (p.Pro306=) | |
| 1 | g.173909571A>C | CA32780206 | SERPINC1 | c.1134T>G (p.Pro378=) c.560-2078T>G (n.560-2078T>G) c.990T>G (p.Pro330=) c.1257T>G (p.Pro419=) c.1215T>G (p.Pro405=) c.1113T>G (p.Pro371=) c.1077T>G (p.Pro359=) c.918T>G (p.Pro306=) | dbSNP |
| 1 | g.173909571A>G | CA421942789 | SERPINC1 | c.1134T>C (p.Pro378=) c.560-2078T>C (n.560-2078T>C) c.990T>C (p.Pro330=) c.1257T>C (p.Pro419=) c.1215T>C (p.Pro405=) c.1113T>C (p.Pro371=) c.1077T>C (p.Pro359=) c.918T>C (p.Pro306=) | dbSNP |
| 1 | g.173909571A>T | CA421942790 | SERPINC1 | c.1134T>A (p.Pro378=) c.560-2078T>A (n.560-2078T>A) c.990T>A (p.Pro330=) c.1257T>A (p.Pro419=) c.1215T>A (p.Pro405=) c.1113T>A (p.Pro371=) c.1077T>A (p.Pro359=) c.918T>A (p.Pro306=) | |
| 1 | g.173909572G>A | CA343773499 | SERPINC1 | c.1133C>T (p.Pro378Leu) c.560-2079C>T (n.560-2079C>T) c.989C>T (p.Pro330Leu) c.1256C>T (p.Pro419Leu) c.1214C>T (p.Pro405Leu) c.1112C>T (p.Pro371Leu) c.1076C>T (p.Pro359Leu) c.917C>T (p.Pro306Leu) | |
| 1 | g.173909572G>C | CA343773500 | SERPINC1 | c.1133C>G (p.Pro378Arg) c.560-2079C>G (n.560-2079C>G) c.989C>G (p.Pro330Arg) c.1256C>G (p.Pro419Arg) c.1214C>G (p.Pro405Arg) c.1112C>G (p.Pro371Arg) c.1076C>G (p.Pro359Arg) c.917C>G (p.Pro306Arg) | |
| 1 | g.173909572G>T | CA343773501 | SERPINC1 | c.1133C>A (p.Pro378His) c.560-2079C>A (n.560-2079C>A) c.989C>A (p.Pro330His) c.1256C>A (p.Pro419His) c.1214C>A (p.Pro405His) c.1112C>A (p.Pro371His) c.1076C>A (p.Pro359His) c.917C>A (p.Pro306His) | |
| 1 | g.173909573G>A | CA343773504 | SERPINC1 | c.1132C>T (p.Pro378Ser) c.560-2080C>T (n.560-2080C>T) c.988C>T (p.Pro330Ser) c.1255C>T (p.Pro419Ser) c.1213C>T (p.Pro405Ser) c.1111C>T (p.Pro371Ser) c.1075C>T (p.Pro359Ser) c.916C>T (p.Pro306Ser) | |
| 1 | g.173909573G>C | CA343773502 | SERPINC1 | c.1132C>G (p.Pro378Ala) c.560-2080C>G (n.560-2080C>G) c.988C>G (p.Pro330Ala) c.1255C>G (p.Pro419Ala) c.1213C>G (p.Pro405Ala) c.1111C>G (p.Pro371Ala) c.1075C>G (p.Pro359Ala) c.916C>G (p.Pro306Ala) | |
| 1 | g.173909573G>T | CA343773503 | SERPINC1 | c.1132C>A (p.Pro378Thr) c.560-2080C>A (n.560-2080C>A) c.988C>A (p.Pro330Thr) c.1255C>A (p.Pro419Thr) c.1213C>A (p.Pro405Thr) c.1111C>A (p.Pro371Thr) c.1075C>A (p.Pro359Thr) c.916C>A (p.Pro306Thr) | gnomAD v4 |
| 1 | g.173909574G>A | CA421942792 | SERPINC1 | c.1131C>T (p.Ser377=) c.560-2081C>T (n.560-2081C>T) c.987C>T (p.Ser329=) c.1254C>T (p.Ser418=) c.1212C>T (p.Ser404=) c.1110C>T (p.Ser370=) c.1074C>T (p.Ser358=) c.915C>T (p.Ser305=) | |
| 1 | g.173909574G>C | CA343773505 | SERPINC1 | c.1131C>G (p.Ser377Arg) c.560-2081C>G (n.560-2081C>G) c.987C>G (p.Ser329Arg) c.1254C>G (p.Ser418Arg) c.1212C>G (p.Ser404Arg) c.1110C>G (p.Ser370Arg) c.1074C>G (p.Ser358Arg) c.915C>G (p.Ser305Arg) | |
| 1 | g.173909574G>T | CA343773506 | SERPINC1 | c.1131C>A (p.Ser377Arg) c.560-2081C>A (n.560-2081C>A) c.987C>A (p.Ser329Arg) c.1254C>A (p.Ser418Arg) c.1212C>A (p.Ser404Arg) c.1110C>A (p.Ser370Arg) c.1074C>A (p.Ser358Arg) c.915C>A (p.Ser305Arg) | gnomAD v4 |
| 1 | g.173909575C>A | CA343773507 | SERPINC1 | c.1130G>T (p.Ser377Ile) c.560-2082G>T (n.560-2082G>T) c.986G>T (p.Ser329Ile) c.1253G>T (p.Ser418Ile) c.1211G>T (p.Ser404Ile) c.1109G>T (p.Ser370Ile) c.1073G>T (p.Ser358Ile) c.914G>T (p.Ser305Ile) | |
| 1 | g.173909575C>G | CA343773508 | SERPINC1 | c.1130G>C (p.Ser377Thr) c.560-2082G>C (n.560-2082G>C) c.986G>C (p.Ser329Thr) c.1253G>C (p.Ser418Thr) c.1211G>C (p.Ser404Thr) c.1109G>C (p.Ser370Thr) c.1073G>C (p.Ser358Thr) c.914G>C (p.Ser305Thr) | |
| 1 | g.173909575C>T | CA343773509 | SERPINC1 | c.1130G>A (p.Ser377Asn) c.560-2082G>A (n.560-2082G>A) c.986G>A (p.Ser329Asn) c.1253G>A (p.Ser418Asn) c.1211G>A (p.Ser404Asn) c.1109G>A (p.Ser370Asn) c.1073G>A (p.Ser358Asn) c.914G>A (p.Ser305Asn) | gnomAD v4 |
| 1 | g.173909576T>A | CA343773510 | SERPINC1 | c.1129A>T (p.Ser377Cys) c.560-2083A>T (n.560-2083A>T) c.985A>T (p.Ser329Cys) c.1252A>T (p.Ser418Cys) c.1210A>T (p.Ser404Cys) c.1108A>T (p.Ser370Cys) c.1072A>T (p.Ser358Cys) c.913A>T (p.Ser305Cys) | |
| 1 | g.173909576T>C | CA343773512 | SERPINC1 | c.1129A>G (p.Ser377Gly) c.560-2083A>G (n.560-2083A>G) c.985A>G (p.Ser329Gly) c.1252A>G (p.Ser418Gly) c.1210A>G (p.Ser404Gly) c.1108A>G (p.Ser370Gly) c.1072A>G (p.Ser358Gly) c.913A>G (p.Ser305Gly) | gnomAD v4 |
| 1 | g.173909576T>G | CA343773511 | SERPINC1 | c.1129A>C (p.Ser377Arg) c.560-2083A>C (n.560-2083A>C) c.985A>C (p.Ser329Arg) c.1252A>C (p.Ser418Arg) c.1210A>C (p.Ser404Arg) c.1108A>C (p.Ser370Arg) c.1072A>C (p.Ser358Arg) c.913A>C (p.Ser305Arg) | |
| 1 | g.173909577G>A | CA421942794 | SERPINC1 | c.1128C>T (p.Phe376=) c.560-2084C>T (n.560-2084C>T) c.984C>T (p.Phe328=) c.1251C>T (p.Phe417=) c.1209C>T (p.Phe403=) c.1107C>T (p.Phe369=) c.1071C>T (p.Phe357=) c.912C>T (p.Phe304=) | gnomAD v4 |