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 |
|---|---|---|---|---|---|
| 9 | g.99146553A= | CA1867263867 | TGFBR1 | c.992A= (p.Asp331=) c.1004A= (p.Asp335=) c.*121A= (n.*121A=) c.761A= (p.Asp254=) c.*995A= (n.*995A=) c.1199A= (p.Asp400=) c.968A= (p.Asp323=) c.1143-1101A= (n.1143-1101A=) c.1211A= (p.Asp404=) | |
| 9 | g.99146553A>C | CA374232953 | TGFBR1 | c.992A>C (p.Asp331Ala) c.1004A>C (p.Asp335Ala) c.*121A>C (n.*121A>C) c.761A>C (p.Asp254Ala) c.*995A>C (n.*995A>C) c.1199A>C (p.Asp400Ala) c.968A>C (p.Asp323Ala) c.1143-1101A>C (n.1143-1101A>C) c.1211A>C (p.Asp404Ala) | |
| 9 | g.99146553A>G | CA008717 | TGFBR1 | c.992A>G (p.Asp331Gly) c.1004A>G (p.Asp335Gly) c.*121A>G (n.*121A>G) c.761A>G (p.Asp254Gly) c.*995A>G (n.*995A>G) c.1199A>G (p.Asp400Gly) c.968A>G (p.Asp323Gly) c.1143-1101A>G (n.1143-1101A>G) c.1211A>G (p.Asp404Gly) | ClinVar dbSNP |
| 9 | g.99146553A>T | CA374232956 | TGFBR1 | c.992A>T (p.Asp331Val) c.1004A>T (p.Asp335Val) c.*121A>T (n.*121A>T) c.761A>T (p.Asp254Val) c.*995A>T (n.*995A>T) c.1199A>T (p.Asp400Val) c.968A>T (p.Asp323Val) c.1143-1101A>T (n.1143-1101A>T) c.1211A>T (p.Asp404Val) | |
| 9 | g.99146554C>A | CA374232957 | TGFBR1 | c.993C>A (p.Asp331Glu) c.1005C>A (p.Asp335Glu) c.*122C>A (n.*122C>A) c.762C>A (p.Asp254Glu) c.*996C>A (n.*996C>A) c.1200C>A (p.Asp400Glu) c.969C>A (p.Asp323Glu) c.1143-1100C>A (n.1143-1100C>A) c.1212C>A (p.Asp404Glu) | |
| 9 | g.99146554C= | CA1867263871 | TGFBR1 | c.993C= (p.Asp331=) c.1005C= (p.Asp335=) c.*122C= (n.*122C=) c.762C= (p.Asp254=) c.*996C= (n.*996C=) c.1200C= (p.Asp400=) c.969C= (p.Asp323=) c.1143-1100C= (n.1143-1100C=) c.1212C= (p.Asp404=) | |
| 9 | g.99146554C>G | CA374232958 | TGFBR1 | c.993C>G (p.Asp331Glu) c.1005C>G (p.Asp335Glu) c.*122C>G (n.*122C>G) c.762C>G (p.Asp254Glu) c.*996C>G (n.*996C>G) c.1200C>G (p.Asp400Glu) c.969C>G (p.Asp323Glu) c.1143-1100C>G (n.1143-1100C>G) c.1212C>G (p.Asp404Glu) | |
| 9 | g.99146554C>T | CA466435356 | TGFBR1 | c.993C>T (p.Asp331=) c.1005C>T (p.Asp335=) c.*122C>T (n.*122C>T) c.762C>T (p.Asp254=) c.*996C>T (n.*996C>T) c.1200C>T (p.Asp400=) c.969C>T (p.Asp323=) c.1143-1100C>T (n.1143-1100C>T) c.1212C>T (p.Asp404=) | dbSNP gnomAD v4 |
| 9 | g.99146555A>C | CA374232959 | TGFBR1 | c.994A>C (p.Ile332Leu) c.1006A>C (p.Ile336Leu) c.*123A>C (n.*123A>C) c.763A>C (p.Ile255Leu) c.*997A>C (n.*997A>C) c.1201A>C (p.Ile401Leu) c.970A>C (p.Ile324Leu) c.1143-1099A>C (n.1143-1099A>C) c.1213A>C (p.Ile405Leu) | |
| 9 | g.99146555A>G | CA374232961 | TGFBR1 | c.994A>G (p.Ile332Val) c.1006A>G (p.Ile336Val) c.*123A>G (n.*123A>G) c.763A>G (p.Ile255Val) c.*997A>G (n.*997A>G) c.1201A>G (p.Ile401Val) c.970A>G (p.Ile324Val) c.1143-1099A>G (n.1143-1099A>G) c.1213A>G (p.Ile405Val) | |
| 9 | g.99146555A>T | CA374232963 | TGFBR1 | c.994A>T (p.Ile332Phe) c.1006A>T (p.Ile336Phe) c.*123A>T (n.*123A>T) c.763A>T (p.Ile255Phe) c.*997A>T (n.*997A>T) c.1201A>T (p.Ile401Phe) c.970A>T (p.Ile324Phe) c.1143-1099A>T (n.1143-1099A>T) c.1213A>T (p.Ile405Phe) | |
| 9 | g.99146556T>A | CA374232966 | TGFBR1 | c.995T>A (p.Ile332Asn) c.1007T>A (p.Ile336Asn) c.*124T>A (n.*124T>A) c.764T>A (p.Ile255Asn) c.*998T>A (n.*998T>A) c.1202T>A (p.Ile401Asn) c.971T>A (p.Ile324Asn) c.1143-1098T>A (n.1143-1098T>A) c.1214T>A (p.Ile405Asn) | dbSNP gnomAD v2 |
| 9 | g.99146556T>C | CA374232967 | TGFBR1 | c.995T>C (p.Ile332Thr) c.1007T>C (p.Ile336Thr) c.*124T>C (n.*124T>C) c.764T>C (p.Ile255Thr) c.*998T>C (n.*998T>C) c.1202T>C (p.Ile401Thr) c.971T>C (p.Ile324Thr) c.1143-1098T>C (n.1143-1098T>C) c.1214T>C (p.Ile405Thr) | |
| 9 | g.99146556T>G | CA374232969 | TGFBR1 | c.995T>G (p.Ile332Ser) c.1007T>G (p.Ile336Ser) c.*124T>G (n.*124T>G) c.764T>G (p.Ile255Ser) c.*998T>G (n.*998T>G) c.1202T>G (p.Ile401Ser) c.971T>G (p.Ile324Ser) c.1143-1098T>G (n.1143-1098T>G) c.1214T>G (p.Ile405Ser) | |
| 9 | g.99146556T= | CA1867263874 | TGFBR1 | c.995T= (p.Ile332=) c.1007T= (p.Ile336=) c.*124T= (n.*124T=) c.764T= (p.Ile255=) c.*998T= (n.*998T=) c.1202T= (p.Ile401=) c.971T= (p.Ile324=) c.1143-1098T= (n.1143-1098T=) c.1214T= (p.Ile405=) | |
| 9 | g.99146557C>A | CA466435364 | TGFBR1 | c.996C>A (p.Ile332=) c.1008C>A (p.Ile336=) c.*125C>A (n.*125C>A) c.765C>A (p.Ile255=) c.*999C>A (n.*999C>A) c.1203C>A (p.Ile401=) c.972C>A (p.Ile324=) c.1143-1097C>A (n.1143-1097C>A) c.1215C>A (p.Ile405=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.99146557C= | CA1867263880 | TGFBR1 | c.996C= (p.Ile332=) c.1008C= (p.Ile336=) c.*125C= (n.*125C=) c.765C= (p.Ile255=) c.*999C= (n.*999C=) c.1203C= (p.Ile401=) c.972C= (p.Ile324=) c.1143-1097C= (n.1143-1097C=) c.1215C= (p.Ile405=) | |
| 9 | g.99146557C>G | CA374232971 | TGFBR1 | c.996C>G (p.Ile332Met) c.1008C>G (p.Ile336Met) c.*125C>G (n.*125C>G) c.765C>G (p.Ile255Met) c.*999C>G (n.*999C>G) c.1203C>G (p.Ile401Met) c.972C>G (p.Ile324Met) c.1143-1097C>G (n.1143-1097C>G) c.1215C>G (p.Ile405Met) | ClinVar gnomAD v4 |
| 9 | g.99146557C>T | CA044274 | TGFBR1 | c.996C>T (p.Ile332=) c.1008C>T (p.Ile336=) c.*125C>T (n.*125C>T) c.765C>T (p.Ile255=) c.*999C>T (n.*999C>T) c.1203C>T (p.Ile401=) c.972C>T (p.Ile324=) c.1143-1097C>T (n.1143-1097C>T) c.1215C>T (p.Ile405=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99146558T>A | CA374232974 | TGFBR1 | c.997T>A (p.Tyr333Asn) c.1009T>A (p.Tyr337Asn) c.*126T>A (n.*126T>A) c.766T>A (p.Tyr256Asn) c.*1000T>A (n.*1000T>A) c.1204T>A (p.Tyr402Asn) c.973T>A (p.Tyr325Asn) c.1143-1096T>A (n.1143-1096T>A) c.1216T>A (p.Tyr406Asn) | |
| 9 | g.99146558T>C | CA374232977 | TGFBR1 | c.997T>C (p.Tyr333His) c.1009T>C (p.Tyr337His) c.*126T>C (n.*126T>C) c.766T>C (p.Tyr256His) c.*1000T>C (n.*1000T>C) c.1204T>C (p.Tyr402His) c.973T>C (p.Tyr325His) c.1143-1096T>C (n.1143-1096T>C) c.1216T>C (p.Tyr406His) | |
| 9 | g.99146558T>G | CA374232976 | TGFBR1 | c.997T>G (p.Tyr333Asp) c.1009T>G (p.Tyr337Asp) c.*126T>G (n.*126T>G) c.766T>G (p.Tyr256Asp) c.*1000T>G (n.*1000T>G) c.1204T>G (p.Tyr402Asp) c.973T>G (p.Tyr325Asp) c.1143-1096T>G (n.1143-1096T>G) c.1216T>G (p.Tyr406Asp) | |
| 9 | g.99146558_99146559insTTGG | CA2720314617 | TGFBR1 | c.997_998insTTGG (p.Tyr333PhefsTer22) c.1009_1010insTTGG (p.Tyr337PhefsTer22) c.*126_*127insTTGG (n.*126_*127insTTGG) c.766_767insTTGG (p.Tyr256PhefsTer22) c.*1000_*1001insTTGG (n.*1000_*1001insTTGG) c.1204_1205insTTGG (p.Tyr402PhefsTer22) c.973_974insTTGG (p.Tyr325PhefsTer22) c.1143-1096_1143-1095insTTGG (n.1143-1096_1143-1095insTTGG) c.1216_1217insTTGG (p.Tyr406PhefsTer22) | dbSNP |
| 9 | g.99146559A= | CA1867263886 | TGFBR1 | c.998A= (p.Tyr333=) c.1010A= (p.Tyr337=) c.*127A= (n.*127A=) c.767A= (p.Tyr256=) c.*1001A= (n.*1001A=) c.1205A= (p.Tyr402=) c.974A= (p.Tyr325=) c.1143-1095A= (n.1143-1095A=) c.1217A= (p.Tyr406=) | |
| 9 | g.99146559A>C | CA374232979 | TGFBR1 | c.998A>C (p.Tyr333Ser) c.1010A>C (p.Tyr337Ser) c.*127A>C (n.*127A>C) c.767A>C (p.Tyr256Ser) c.*1001A>C (n.*1001A>C) c.1205A>C (p.Tyr402Ser) c.974A>C (p.Tyr325Ser) c.1143-1095A>C (n.1143-1095A>C) c.1217A>C (p.Tyr406Ser) | |
| 9 | g.99146559A>G | CA044286 | TGFBR1 | c.998A>G (p.Tyr333Cys) c.1010A>G (p.Tyr337Cys) c.*127A>G (n.*127A>G) c.767A>G (p.Tyr256Cys) c.*1001A>G (n.*1001A>G) c.1205A>G (p.Tyr402Cys) c.974A>G (p.Tyr325Cys) c.1143-1095A>G (n.1143-1095A>G) c.1217A>G (p.Tyr406Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99146559A>T | CA374232981 | TGFBR1 | c.998A>T (p.Tyr333Phe) c.1010A>T (p.Tyr337Phe) c.*127A>T (n.*127A>T) c.767A>T (p.Tyr256Phe) c.*1001A>T (n.*1001A>T) c.1205A>T (p.Tyr402Phe) c.974A>T (p.Tyr325Phe) c.1143-1095A>T (n.1143-1095A>T) c.1217A>T (p.Tyr406Phe) | |
| 9 | g.99146560T>A | CA374232982 | TGFBR1 | c.999T>A (p.Tyr333Ter) c.1011T>A (p.Tyr337Ter) c.*128T>A (n.*128T>A) c.768T>A (p.Tyr256Ter) c.*1002T>A (n.*1002T>A) c.1206T>A (p.Tyr402Ter) c.975T>A (p.Tyr325Ter) c.1143-1094T>A (n.1143-1094T>A) c.1218T>A (p.Tyr406Ter) | |
| 9 | g.99146560T>C | CA466435371 | TGFBR1 | c.999T>C (p.Tyr333=) c.1011T>C (p.Tyr337=) c.*128T>C (n.*128T>C) c.768T>C (p.Tyr256=) c.*1002T>C (n.*1002T>C) c.1206T>C (p.Tyr402=) c.975T>C (p.Tyr325=) c.1143-1094T>C (n.1143-1094T>C) c.1218T>C (p.Tyr406=) | |
| 9 | g.99146560T>G | CA374232983 | TGFBR1 | c.999T>G (p.Tyr333Ter) c.1011T>G (p.Tyr337Ter) c.*128T>G (n.*128T>G) c.768T>G (p.Tyr256Ter) c.*1002T>G (n.*1002T>G) c.1206T>G (p.Tyr402Ter) c.975T>G (p.Tyr325Ter) c.1143-1094T>G (n.1143-1094T>G) c.1218T>G (p.Tyr406Ter) | |
| 9 | g.99146561G>A | CA374232985 | TGFBR1 | c.1000G>A (p.Ala334Thr) c.1012G>A (p.Ala338Thr) c.*129G>A (n.*129G>A) c.769G>A (p.Ala257Thr) c.*1003G>A (n.*1003G>A) c.1207G>A (p.Ala403Thr) c.976G>A (p.Ala326Thr) c.1143-1093G>A (n.1143-1093G>A) c.1219G>A (p.Ala407Thr) | |
| 9 | g.99146561G>C | CA374232988 | TGFBR1 | c.1000G>C (p.Ala334Pro) c.1012G>C (p.Ala338Pro) c.*129G>C (n.*129G>C) c.769G>C (p.Ala257Pro) c.*1003G>C (n.*1003G>C) c.1207G>C (p.Ala403Pro) c.976G>C (p.Ala326Pro) c.1143-1093G>C (n.1143-1093G>C) c.1219G>C (p.Ala407Pro) | |
| 9 | g.99146561G>T | CA374232990 | TGFBR1 | c.1000G>T (p.Ala334Ser) c.1012G>T (p.Ala338Ser) c.*129G>T (n.*129G>T) c.769G>T (p.Ala257Ser) c.*1003G>T (n.*1003G>T) c.1207G>T (p.Ala403Ser) c.976G>T (p.Ala326Ser) c.1143-1093G>T (n.1143-1093G>T) c.1219G>T (p.Ala407Ser) | |
| 9 | g.99146561_99146562insAACCTCCTTTCAGA | CA2720314621 | TGFBR1 | c.1000_1001insAACCTCCTTTCAGA (p.Ala334GlufsTer9) c.1012_1013insAACCTCCTTTCAGA (p.Ala338GlufsTer9) c.*129_*130insAACCTCCTTTCAGA (n.*129_*130insAACCTCCTTTCAGA) c.769_770insAACCTCCTTTCAGA (p.Ala257GlufsTer9) c.*1003_*1004insAACCTCCTTTCAGA (n.*1003_*1004insAACCTCCTTTCAGA) c.1207_1208insAACCTCCTTTCAGA (p.Ala403GlufsTer9) c.976_977insAACCTCCTTTCAGA (p.Ala326GlufsTer9) c.1143-1093_1143-1092insAACCTCCTTTCAGA (n.1143-1093_1143-1092insAACCTCCTTTCAGA) c.1219_1220insAACCTCCTTTCAGA (p.Ala407GlufsTer9) | dbSNP |
| 9 | g.99146562C>A | CA374232992 | TGFBR1 | c.1001C>A (p.Ala334Glu) c.1013C>A (p.Ala338Glu) c.*130C>A (n.*130C>A) c.770C>A (p.Ala257Glu) c.*1004C>A (n.*1004C>A) c.1208C>A (p.Ala403Glu) c.977C>A (p.Ala326Glu) c.1143-1092C>A (n.1143-1092C>A) c.1220C>A (p.Ala407Glu) | |
| 9 | g.99146562C= | CA1867263890 | TGFBR1 | c.1001C= (p.Ala334=) c.1013C= (p.Ala338=) c.*130C= (n.*130C=) c.770C= (p.Ala257=) c.*1004C= (n.*1004C=) c.1208C= (p.Ala403=) c.977C= (p.Ala326=) c.1143-1092C= (n.1143-1092C=) c.1220C= (p.Ala407=) | |
| 9 | g.99146562C>G | CA044303 | TGFBR1 | c.1001C>G (p.Ala334Gly) c.1013C>G (p.Ala338Gly) c.*130C>G (n.*130C>G) c.770C>G (p.Ala257Gly) c.*1004C>G (n.*1004C>G) c.1208C>G (p.Ala403Gly) c.977C>G (p.Ala326Gly) c.1143-1092C>G (n.1143-1092C>G) c.1220C>G (p.Ala407Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99146562C>T | CA044324 | TGFBR1 | c.1001C>T (p.Ala334Val) c.1013C>T (p.Ala338Val) c.*130C>T (n.*130C>T) c.770C>T (p.Ala257Val) c.*1004C>T (n.*1004C>T) c.1208C>T (p.Ala403Val) c.977C>T (p.Ala326Val) c.1143-1092C>T (n.1143-1092C>T) c.1220C>T (p.Ala407Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.99146563A>C | CA466435373 | TGFBR1 | c.1002A>C (p.Ala334=) c.1014A>C (p.Ala338=) c.*131A>C (n.*131A>C) c.771A>C (p.Ala257=) c.*1005A>C (n.*1005A>C) c.1209A>C (p.Ala403=) c.978A>C (p.Ala326=) c.1143-1091A>C (n.1143-1091A>C) c.1221A>C (p.Ala407=) | |
| 9 | g.99146563A>G | CA466435375 | TGFBR1 | c.1002A>G (p.Ala334=) c.1014A>G (p.Ala338=) c.*131A>G (n.*131A>G) c.771A>G (p.Ala257=) c.*1005A>G (n.*1005A>G) c.1209A>G (p.Ala403=) c.978A>G (p.Ala326=) c.1143-1091A>G (n.1143-1091A>G) c.1221A>G (p.Ala407=) | |
| 9 | g.99146563A>T | CA466435377 | TGFBR1 | c.1002A>T (p.Ala334=) c.1014A>T (p.Ala338=) c.*131A>T (n.*131A>T) c.771A>T (p.Ala257=) c.*1005A>T (n.*1005A>T) c.1209A>T (p.Ala403=) c.978A>T (p.Ala326=) c.1143-1091A>T (n.1143-1091A>T) c.1221A>T (p.Ala407=) | |
| 9 | g.99146564A= | CA1867263895 | TGFBR1 | c.1003A= (p.Met335=) c.1015A= (p.Met339=) c.*132A= (n.*132A=) c.772A= (p.Met258=) c.*1006A= (n.*1006A=) c.1210A= (p.Met404=) c.979A= (p.Met327=) c.1143-1090A= (n.1143-1090A=) c.1222A= (p.Met408=) | |
| 9 | g.99146564A>C | CA374233000 | TGFBR1 | c.1003A>C (p.Met335Leu) c.1015A>C (p.Met339Leu) c.*132A>C (n.*132A>C) c.772A>C (p.Met258Leu) c.*1006A>C (n.*1006A>C) c.1210A>C (p.Met404Leu) c.979A>C (p.Met327Leu) c.1143-1090A>C (n.1143-1090A>C) c.1222A>C (p.Met408Leu) | |
| 9 | g.99146564A>G | CA044334 | TGFBR1 | c.1003A>G (p.Met335Val) c.1015A>G (p.Met339Val) c.*132A>G (n.*132A>G) c.772A>G (p.Met258Val) c.*1006A>G (n.*1006A>G) c.1210A>G (p.Met404Val) c.979A>G (p.Met327Val) c.1143-1090A>G (n.1143-1090A>G) c.1222A>G (p.Met408Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99146564A>T | CA374232997 | TGFBR1 | c.1003A>T (p.Met335Leu) c.1015A>T (p.Met339Leu) c.*132A>T (n.*132A>T) c.772A>T (p.Met258Leu) c.*1006A>T (n.*1006A>T) c.1210A>T (p.Met404Leu) c.979A>T (p.Met327Leu) c.1143-1090A>T (n.1143-1090A>T) c.1222A>T (p.Met408Leu) | dbSNP |
| 9 | g.99146565T>A | CA374233002 | TGFBR1 | c.1004T>A (p.Met335Lys) c.1016T>A (p.Met339Lys) c.*133T>A (n.*133T>A) c.773T>A (p.Met258Lys) c.*1007T>A (n.*1007T>A) c.1211T>A (p.Met404Lys) c.980T>A (p.Met327Lys) c.1143-1089T>A (n.1143-1089T>A) c.1223T>A (p.Met408Lys) | |
| 9 | g.99146565T>C | CA374233005 | TGFBR1 | c.1004T>C (p.Met335Thr) c.1016T>C (p.Met339Thr) c.*133T>C (n.*133T>C) c.773T>C (p.Met258Thr) c.*1007T>C (n.*1007T>C) c.1211T>C (p.Met404Thr) c.980T>C (p.Met327Thr) c.1143-1089T>C (n.1143-1089T>C) c.1223T>C (p.Met408Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99146565T>G | CA374233007 | TGFBR1 | c.1004T>G (p.Met335Arg) c.1016T>G (p.Met339Arg) c.*133T>G (n.*133T>G) c.773T>G (p.Met258Arg) c.*1007T>G (n.*1007T>G) c.1211T>G (p.Met404Arg) c.980T>G (p.Met327Arg) c.1143-1089T>G (n.1143-1089T>G) c.1223T>G (p.Met408Arg) | |
| 9 | g.99146565T= | CA1867263899 | TGFBR1 | c.1004T= (p.Met335=) c.1016T= (p.Met339=) c.*133T= (n.*133T=) c.773T= (p.Met258=) c.*1007T= (n.*1007T=) c.1211T= (p.Met404=) c.980T= (p.Met327=) c.1143-1089T= (n.1143-1089T=) c.1223T= (p.Met408=) | |
| 9 | g.99146566G>A | CA374233012 | TGFBR1 | c.1005G>A (p.Met335Ile) c.1017G>A (p.Met339Ile) c.*134G>A (n.*134G>A) c.774G>A (p.Met258Ile) c.*1008G>A (n.*1008G>A) c.1212G>A (p.Met404Ile) c.981G>A (p.Met327Ile) c.1143-1088G>A (n.1143-1088G>A) c.1224G>A (p.Met408Ile) |