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 |
|---|---|---|---|---|---|
| X | g.20175251C>A | CA412516967 | RPS6KA3 | c.1140G>T (p.Gln380His) c.1053G>T (p.Gln351His) c.1056G>T (p.Gln352His) c.758G>T (n.758G>T) c.*361G>T (n.*361G>T) c.1158G>T (p.Gln386His) c.1074G>T (p.Gln358His) c.1071G>T (p.Gln357His) | |
| X | g.20175251C>G | CA412516968 | RPS6KA3 | c.1140G>C (p.Gln380His) c.1053G>C (p.Gln351His) c.1056G>C (p.Gln352His) c.758G>C (n.758G>C) c.*361G>C (n.*361G>C) c.1158G>C (p.Gln386His) c.1074G>C (p.Gln358His) c.1071G>C (p.Gln357His) | gnomAD v4 |
| X | g.20175251C>T | CA515614176 | RPS6KA3 | c.1140G>A (p.Gln380=) c.1053G>A (p.Gln351=) c.1056G>A (p.Gln352=) c.758G>A (n.758G>A) c.*361G>A (n.*361G>A) c.1158G>A (p.Gln386=) c.1074G>A (p.Gln358=) c.1071G>A (p.Gln357=) | |
| X | g.20175252T>A | CA412516969 | RPS6KA3 | c.1139A>T (p.Gln380Leu) c.1052A>T (p.Gln351Leu) c.1055A>T (p.Gln352Leu) c.757A>T (n.757A>T) c.*360A>T (n.*360A>T) c.1157A>T (p.Gln386Leu) c.1073A>T (p.Gln358Leu) c.1070A>T (p.Gln357Leu) | |
| X | g.20175252T>C | CA412516970 | RPS6KA3 | c.1139A>G (p.Gln380Arg) c.1052A>G (p.Gln351Arg) c.1055A>G (p.Gln352Arg) c.757A>G (n.757A>G) c.*360A>G (n.*360A>G) c.1157A>G (p.Gln386Arg) c.1073A>G (p.Gln358Arg) c.1070A>G (p.Gln357Arg) | |
| X | g.20175252T>G | CA412516971 | RPS6KA3 | c.1139A>C (p.Gln380Pro) c.1052A>C (p.Gln351Pro) c.1055A>C (p.Gln352Pro) c.757A>C (n.757A>C) c.*360A>C (n.*360A>C) c.1157A>C (p.Gln386Pro) c.1073A>C (p.Gln358Pro) c.1070A>C (p.Gln357Pro) | |
| X | g.20175253G>A | CA412516972 | RPS6KA3 | c.1138C>T (p.Gln380Ter) c.1051C>T (p.Gln351Ter) c.1054C>T (p.Gln352Ter) c.756C>T (n.756C>T) c.*359C>T (n.*359C>T) c.1156C>T (p.Gln386Ter) c.1072C>T (p.Gln358Ter) c.1069C>T (p.Gln357Ter) | |
| X | g.20175253G>C | CA412516973 | RPS6KA3 | c.1138C>G (p.Gln380Glu) c.1051C>G (p.Gln351Glu) c.1054C>G (p.Gln352Glu) c.756C>G (n.756C>G) c.*359C>G (n.*359C>G) c.1156C>G (p.Gln386Glu) c.1072C>G (p.Gln358Glu) c.1069C>G (p.Gln357Glu) | |
| X | g.20175253G>T | CA412516974 | RPS6KA3 | c.1138C>A (p.Gln380Lys) c.1051C>A (p.Gln351Lys) c.1054C>A (p.Gln352Lys) c.756C>A (n.756C>A) c.*359C>A (n.*359C>A) c.1156C>A (p.Gln386Lys) c.1072C>A (p.Gln358Lys) c.1069C>A (p.Gln357Lys) | |
| X | g.20175254A>C | CA412516975 | RPS6KA3 | c.1137T>G (p.His379Gln) c.1050T>G (p.His350Gln) c.1053T>G (p.His351Gln) c.755T>G (n.755T>G) c.*358T>G (n.*358T>G) c.1155T>G (p.His385Gln) c.1071T>G (p.His357Gln) c.1068T>G (p.His356Gln) | |
| X | g.20175254A>G | CA515614177 | RPS6KA3 | c.1137T>C (p.His379=) c.1050T>C (p.His350=) c.1053T>C (p.His351=) c.755T>C (n.755T>C) c.*358T>C (n.*358T>C) c.1155T>C (p.His385=) c.1071T>C (p.His357=) c.1068T>C (p.His356=) | |
| X | g.20175254A>T | CA412516976 | RPS6KA3 | c.1137T>A (p.His379Gln) c.1050T>A (p.His350Gln) c.1053T>A (p.His351Gln) c.755T>A (n.755T>A) c.*358T>A (n.*358T>A) c.1155T>A (p.His385Gln) c.1071T>A (p.His357Gln) c.1068T>A (p.His356Gln) | |
| X | g.20175255T>A | CA412516979 | RPS6KA3 | c.1136A>T (p.His379Leu) c.1049A>T (p.His350Leu) c.1052A>T (p.His351Leu) c.754A>T (n.754A>T) c.*357A>T (n.*357A>T) c.1154A>T (p.His385Leu) c.1070A>T (p.His357Leu) c.1067A>T (p.His356Leu) | dbSNP |
| X | g.20175255T>C | CA412516978 | RPS6KA3 | c.1136A>G (p.His379Arg) c.1049A>G (p.His350Arg) c.1052A>G (p.His351Arg) c.754A>G (n.754A>G) c.*357A>G (n.*357A>G) c.1154A>G (p.His385Arg) c.1070A>G (p.His357Arg) c.1067A>G (p.His356Arg) | |
| X | g.20175255T>G | CA412516977 | RPS6KA3 | c.1136A>C (p.His379Pro) c.1049A>C (p.His350Pro) c.1052A>C (p.His351Pro) c.754A>C (n.754A>C) c.*357A>C (n.*357A>C) c.1154A>C (p.His385Pro) c.1070A>C (p.His357Pro) c.1067A>C (p.His356Pro) | |
| X | g.20175256G>A | CA412516980 | RPS6KA3 | c.1135C>T (p.His379Tyr) c.1048C>T (p.His350Tyr) c.1051C>T (p.His351Tyr) c.753C>T (n.753C>T) c.*356C>T (n.*356C>T) c.1153C>T (p.His385Tyr) c.1069C>T (p.His357Tyr) c.1066C>T (p.His356Tyr) | |
| X | g.20175256G>C | CA412516981 | RPS6KA3 | c.1135C>G (p.His379Asp) c.1048C>G (p.His350Asp) c.1051C>G (p.His351Asp) c.753C>G (n.753C>G) c.*356C>G (n.*356C>G) c.1153C>G (p.His385Asp) c.1069C>G (p.His357Asp) c.1066C>G (p.His356Asp) | |
| X | g.20175256G>T | CA412516982 | RPS6KA3 | c.1135C>A (p.His379Asn) c.1048C>A (p.His350Asn) c.1051C>A (p.His351Asn) c.753C>A (n.753C>A) c.*356C>A (n.*356C>A) c.1153C>A (p.His385Asn) c.1069C>A (p.His357Asn) c.1066C>A (p.His356Asn) | |
| X | g.20175257T>A | CA515614178 | RPS6KA3 | c.1134A>T (p.Ala378=) c.1047A>T (p.Ala349=) c.1050A>T (p.Ala350=) c.752A>T (n.752A>T) c.*355A>T (n.*355A>T) c.1152A>T (p.Ala384=) c.1068A>T (p.Ala356=) c.1065A>T (p.Ala355=) | |
| X | g.20175257T>C | CA515614179 | RPS6KA3 | c.1134A>G (p.Ala378=) c.1047A>G (p.Ala349=) c.1050A>G (p.Ala350=) c.752A>G (n.752A>G) c.*355A>G (n.*355A>G) c.1152A>G (p.Ala384=) c.1068A>G (p.Ala356=) c.1065A>G (p.Ala355=) | |
| X | g.20175257T>G | CA515614180 | RPS6KA3 | c.1134A>C (p.Ala378=) c.1047A>C (p.Ala349=) c.1050A>C (p.Ala350=) c.752A>C (n.752A>C) c.*355A>C (n.*355A>C) c.1152A>C (p.Ala384=) c.1068A>C (p.Ala356=) c.1065A>C (p.Ala355=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.20175257T= | CA2418509223 | RPS6KA3 | c.1134A= (p.Ala378=) c.1047A= (p.Ala349=) c.1050A= (p.Ala350=) c.752A= (n.752A=) c.*355A= (n.*355A=) c.1152A= (p.Ala384=) c.1068A= (p.Ala356=) c.1065A= (p.Ala355=) | |
| X | g.20175258G>A | CA412516983 | RPS6KA3 | c.1133C>T (p.Ala378Val) c.1046C>T (p.Ala349Val) c.1049C>T (p.Ala350Val) c.751C>T (n.751C>T) c.*354C>T (n.*354C>T) c.1151C>T (p.Ala384Val) c.1067C>T (p.Ala356Val) c.1064C>T (p.Ala355Val) | |
| X | g.20175258G>C | CA412516984 | RPS6KA3 | c.1133C>G (p.Ala378Gly) c.1046C>G (p.Ala349Gly) c.1049C>G (p.Ala350Gly) c.751C>G (n.751C>G) c.*354C>G (n.*354C>G) c.1151C>G (p.Ala384Gly) c.1067C>G (p.Ala356Gly) c.1064C>G (p.Ala355Gly) | |
| X | g.20175258G>T | CA412516985 | RPS6KA3 | c.1133C>A (p.Ala378Glu) c.1046C>A (p.Ala349Glu) c.1049C>A (p.Ala350Glu) c.751C>A (n.751C>A) c.*354C>A (n.*354C>A) c.1151C>A (p.Ala384Glu) c.1067C>A (p.Ala356Glu) c.1064C>A (p.Ala355Glu) | |
| X | g.20175259C>A | CA412516988 | RPS6KA3 | c.1132G>T (p.Ala378Ser) c.1045G>T (p.Ala349Ser) c.1048G>T (p.Ala350Ser) c.750G>T (n.750G>T) c.*353G>T (n.*353G>T) c.1150G>T (p.Ala384Ser) c.1066G>T (p.Ala356Ser) c.1063G>T (p.Ala355Ser) | |
| X | g.20175259C>G | CA412516986 | RPS6KA3 | c.1132G>C (p.Ala378Pro) c.1045G>C (p.Ala349Pro) c.1048G>C (p.Ala350Pro) c.750G>C (n.750G>C) c.*353G>C (n.*353G>C) c.1150G>C (p.Ala384Pro) c.1066G>C (p.Ala356Pro) c.1063G>C (p.Ala355Pro) | |
| X | g.20175259C>T | CA412516987 | RPS6KA3 | c.1132G>A (p.Ala378Thr) c.1045G>A (p.Ala349Thr) c.1048G>A (p.Ala350Thr) c.750G>A (n.750G>A) c.*353G>A (n.*353G>A) c.1150G>A (p.Ala384Thr) c.1066G>A (p.Ala356Thr) c.1063G>A (p.Ala355Thr) | |
| X | g.20175260A>C | CA412516989 | RPS6KA3 | c.1131T>G (p.Asn377Lys) c.1044T>G (p.Asn348Lys) c.1047T>G (p.Asn349Lys) c.749T>G (n.749T>G) c.*352T>G (n.*352T>G) c.1149T>G (p.Asn383Lys) c.1065T>G (p.Asn355Lys) c.1062T>G (p.Asn354Lys) | |
| X | g.20175260A>G | CA515614181 | RPS6KA3 | c.1131T>C (p.Asn377=) c.1044T>C (p.Asn348=) c.1047T>C (p.Asn349=) c.749T>C (n.749T>C) c.*352T>C (n.*352T>C) c.1149T>C (p.Asn383=) c.1065T>C (p.Asn355=) c.1062T>C (p.Asn354=) | |
| X | g.20175260A>T | CA412516990 | RPS6KA3 | c.1131T>A (p.Asn377Lys) c.1044T>A (p.Asn348Lys) c.1047T>A (p.Asn349Lys) c.749T>A (n.749T>A) c.*352T>A (n.*352T>A) c.1149T>A (p.Asn383Lys) c.1065T>A (p.Asn355Lys) c.1062T>A (p.Asn354Lys) | |
| X | g.20175261T>A | CA412516991 | RPS6KA3 | c.1130A>T (p.Asn377Ile) c.1043A>T (p.Asn348Ile) c.1046A>T (p.Asn349Ile) c.748A>T (n.748A>T) c.*351A>T (n.*351A>T) c.1148A>T (p.Asn383Ile) c.1064A>T (p.Asn355Ile) c.1061A>T (p.Asn354Ile) | |
| X | g.20175261T>C | CA412516992 | RPS6KA3 | c.1130A>G (p.Asn377Ser) c.1043A>G (p.Asn348Ser) c.1046A>G (p.Asn349Ser) c.748A>G (n.748A>G) c.*351A>G (n.*351A>G) c.1148A>G (p.Asn383Ser) c.1064A>G (p.Asn355Ser) c.1061A>G (p.Asn354Ser) | |
| X | g.20175261T>G | CA412516993 | RPS6KA3 | c.1130A>C (p.Asn377Thr) c.1043A>C (p.Asn348Thr) c.1046A>C (p.Asn349Thr) c.748A>C (n.748A>C) c.*351A>C (n.*351A>C) c.1148A>C (p.Asn383Thr) c.1064A>C (p.Asn355Thr) c.1061A>C (p.Asn354Thr) | |
| X | g.20175262T>A | CA412516994 | RPS6KA3 | c.1129A>T (p.Asn377Tyr) c.1042A>T (p.Asn348Tyr) c.1045A>T (p.Asn349Tyr) c.747A>T (n.747A>T) c.*350A>T (n.*350A>T) c.1147A>T (p.Asn383Tyr) c.1063A>T (p.Asn355Tyr) c.1060A>T (p.Asn354Tyr) | |
| X | g.20175262T>C | CA412516996 | RPS6KA3 | c.1129A>G (p.Asn377Asp) c.1042A>G (p.Asn348Asp) c.1045A>G (p.Asn349Asp) c.747A>G (n.747A>G) c.*350A>G (n.*350A>G) c.1147A>G (p.Asn383Asp) c.1063A>G (p.Asn355Asp) c.1060A>G (p.Asn354Asp) | |
| X | g.20175262T>G | CA412516995 | RPS6KA3 | c.1129A>C (p.Asn377His) c.1042A>C (p.Asn348His) c.1045A>C (p.Asn349His) c.747A>C (n.747A>C) c.*350A>C (n.*350A>C) c.1147A>C (p.Asn383His) c.1063A>C (p.Asn355His) c.1060A>C (p.Asn354His) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.20175262T= | CA2418509224 | RPS6KA3 | c.1129A= (p.Asn377=) c.1042A= (p.Asn348=) c.1045A= (p.Asn349=) c.747A= (n.747A=) c.*350A= (n.*350A=) c.1147A= (p.Asn383=) c.1063A= (p.Asn355=) c.1060A= (p.Asn354=) | |
| X | g.20175263A= | CA2418509225 | RPS6KA3 | c.1128T= (p.Ala376=) c.1041T= (p.Ala347=) c.1044T= (p.Ala348=) c.746T= (n.746T=) c.*349T= (n.*349T=) c.1146T= (p.Ala382=) c.1062T= (p.Ala354=) c.1059T= (p.Ala353=) | |
| X | g.20175263A>C | CA515614182 | RPS6KA3 | c.1128T>G (p.Ala376=) c.1041T>G (p.Ala347=) c.1044T>G (p.Ala348=) c.746T>G (n.746T>G) c.*349T>G (n.*349T>G) c.1146T>G (p.Ala382=) c.1062T>G (p.Ala354=) c.1059T>G (p.Ala353=) | |
| X | g.20175263A>G | CA515614183 | RPS6KA3 | c.1128T>C (p.Ala376=) c.1041T>C (p.Ala347=) c.1044T>C (p.Ala348=) c.746T>C (n.746T>C) c.*349T>C (n.*349T>C) c.1146T>C (p.Ala382=) c.1062T>C (p.Ala354=) c.1059T>C (p.Ala353=) | dbSNP gnomAD v4 |
| X | g.20175263A>T | CA515614184 | RPS6KA3 | c.1128T>A (p.Ala376=) c.1041T>A (p.Ala347=) c.1044T>A (p.Ala348=) c.746T>A (n.746T>A) c.*349T>A (n.*349T>A) c.1146T>A (p.Ala382=) c.1062T>A (p.Ala354=) c.1059T>A (p.Ala353=) | |
| X | g.20175264G>A | CA412516997 | RPS6KA3 | c.1127C>T (p.Ala376Val) c.1040C>T (p.Ala347Val) c.1043C>T (p.Ala348Val) c.745C>T (n.745C>T) c.*348C>T (n.*348C>T) c.1145C>T (p.Ala382Val) c.1061C>T (p.Ala354Val) c.1058C>T (p.Ala353Val) | dbSNP |
| X | g.20175264G>C | CA412516998 | RPS6KA3 | c.1127C>G (p.Ala376Gly) c.1040C>G (p.Ala347Gly) c.1043C>G (p.Ala348Gly) c.745C>G (n.745C>G) c.*348C>G (n.*348C>G) c.1145C>G (p.Ala382Gly) c.1061C>G (p.Ala354Gly) c.1058C>G (p.Ala353Gly) | |
| X | g.20175264G= | CA2418509226 | RPS6KA3 | c.1127C= (p.Ala376=) c.1040C= (p.Ala347=) c.1043C= (p.Ala348=) c.745C= (n.745C=) c.*348C= (n.*348C=) c.1145C= (p.Ala382=) c.1061C= (p.Ala354=) c.1058C= (p.Ala353=) | |
| X | g.20175264G>T | CA412516999 | RPS6KA3 | c.1127C>A (p.Ala376Asp) c.1040C>A (p.Ala347Asp) c.1043C>A (p.Ala348Asp) c.745C>A (n.745C>A) c.*348C>A (n.*348C>A) c.1145C>A (p.Ala382Asp) c.1061C>A (p.Ala354Asp) c.1058C>A (p.Ala353Asp) | |
| X | g.20175265C>A | CA412517000 | RPS6KA3 | c.1126G>T (p.Ala376Ser) c.1039G>T (p.Ala347Ser) c.1042G>T (p.Ala348Ser) c.744G>T (n.744G>T) c.*347G>T (n.*347G>T) c.1144G>T (p.Ala382Ser) c.1060G>T (p.Ala354Ser) c.1057G>T (p.Ala353Ser) | |
| X | g.20175265C>G | CA412517001 | RPS6KA3 | c.1126G>C (p.Ala376Pro) c.1039G>C (p.Ala347Pro) c.1042G>C (p.Ala348Pro) c.744G>C (n.744G>C) c.*347G>C (n.*347G>C) c.1144G>C (p.Ala382Pro) c.1060G>C (p.Ala354Pro) c.1057G>C (p.Ala353Pro) | |
| X | g.20175265C>T | CA412517002 | RPS6KA3 | c.1126G>A (p.Ala376Thr) c.1039G>A (p.Ala347Thr) c.1042G>A (p.Ala348Thr) c.744G>A (n.744G>A) c.*347G>A (n.*347G>A) c.1144G>A (p.Ala382Thr) c.1060G>A (p.Ala354Thr) c.1057G>A (p.Ala353Thr) | gnomAD v4 |
| X | g.20175266A>C | CA412517003 | RPS6KA3 | c.1125T>G (p.Ser375Arg) c.1038T>G (p.Ser346Arg) c.1041T>G (p.Ser347Arg) c.743T>G (n.743T>G) c.*346T>G (n.*346T>G) c.1143T>G (p.Ser381Arg) c.1059T>G (p.Ser353Arg) c.1056T>G (p.Ser352Arg) | ClinVar |