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.11157255A= | CA1153537952 | MTOR | c.4366T= (p.Trp1456=) n.286T= c.4153T= (p.Trp1385=) c.*1196T= (n.*1196T=) n.4487T= c.3685T= (p.Trp1229=) c.3118T= (p.Trp1040=) | |
| 1 | g.11157255A>C | CA338372045 | MTOR | c.4366T>G (p.Trp1456Gly) n.286T>G c.4153T>G (p.Trp1385Gly) c.*1196T>G (n.*1196T>G) n.4487T>G c.3685T>G (p.Trp1229Gly) c.3118T>G (p.Trp1040Gly) | ClinVar dbSNP |
| 1 | g.11157255A>G | CA338372048 | MTOR | c.4366T>C (p.Trp1456Arg) n.286T>C c.4153T>C (p.Trp1385Arg) c.*1196T>C (n.*1196T>C) n.4487T>C c.3685T>C (p.Trp1229Arg) c.3118T>C (p.Trp1040Arg) | |
| 1 | g.11157255A>T | CA338372049 | MTOR | c.4366T>A (p.Trp1456Arg) n.286T>A c.4153T>A (p.Trp1385Arg) c.*1196T>A (n.*1196T>A) n.4487T>A c.3685T>A (p.Trp1229Arg) c.3118T>A (p.Trp1040Arg) | dbSNP |
| 1 | g.11157256C>A | CA338372052 | MTOR | c.4365G>T (p.Glu1455Asp) n.285G>T c.4152G>T (p.Glu1384Asp) c.*1195G>T (n.*1195G>T) n.4486G>T c.3684G>T (p.Glu1228Asp) c.3117G>T (p.Glu1039Asp) | |
| 1 | g.11157256C= | CA1153537959 | MTOR | c.4365G= (p.Glu1455=) n.285G= c.4152G= (p.Glu1384=) c.*1195G= (n.*1195G=) n.4486G= c.3684G= (p.Glu1228=) c.3117G= (p.Glu1039=) | |
| 1 | g.11157256C>G | CA338372054 | MTOR | c.4365G>C (p.Glu1455Asp) n.285G>C c.4152G>C (p.Glu1384Asp) c.*1195G>C (n.*1195G>C) n.4486G>C c.3684G>C (p.Glu1228Asp) c.3117G>C (p.Glu1039Asp) | dbSNP |
| 1 | g.11157256C>T | CA415913692 | MTOR | c.4365G>A (p.Glu1455=) n.285G>A c.4152G>A (p.Glu1384=) c.*1195G>A (n.*1195G>A) n.4486G>A c.3684G>A (p.Glu1228=) c.3117G>A (p.Glu1039=) | dbSNP gnomAD v4 COSMIC |
| 1 | g.11157257T>A | CA338372056 | MTOR | c.4364A>T (p.Glu1455Val) n.284A>T c.4151A>T (p.Glu1384Val) c.*1194A>T (n.*1194A>T) n.4485A>T c.3683A>T (p.Glu1228Val) c.3116A>T (p.Glu1039Val) | dbSNP |
| 1 | g.11157257T>C | CA338372058 | MTOR | c.4364A>G (p.Glu1455Gly) n.284A>G c.4151A>G (p.Glu1384Gly) c.*1194A>G (n.*1194A>G) n.4485A>G c.3683A>G (p.Glu1228Gly) c.3116A>G (p.Glu1039Gly) | |
| 1 | g.11157257T>G | CA338372061 | MTOR | c.4364A>C (p.Glu1455Ala) n.284A>C c.4151A>C (p.Glu1384Ala) c.*1194A>C (n.*1194A>C) n.4485A>C c.3683A>C (p.Glu1228Ala) c.3116A>C (p.Glu1039Ala) | |
| 1 | g.11157258C>A | CA338372066 | MTOR | c.4363G>T (p.Glu1455Ter) n.283G>T c.4150G>T (p.Glu1384Ter) c.*1193G>T (n.*1193G>T) n.4484G>T c.3682G>T (p.Glu1228Ter) c.3115G>T (p.Glu1039Ter) | dbSNP |
| 1 | g.11157258C= | CA1153537964 | MTOR | c.4363G= (p.Glu1455=) n.283G= c.4150G= (p.Glu1384=) c.*1193G= (n.*1193G=) n.4484G= c.3682G= (p.Glu1228=) c.3115G= (p.Glu1039=) | |
| 1 | g.11157258C>G | CA338372069 | MTOR | c.4363G>C (p.Glu1455Gln) n.283G>C c.4150G>C (p.Glu1384Gln) c.*1193G>C (n.*1193G>C) n.4484G>C c.3682G>C (p.Glu1228Gln) c.3115G>C (p.Glu1039Gln) | dbSNP |
| 1 | g.11157258C>T | CA338372064 | MTOR | c.4363G>A (p.Glu1455Lys) n.283G>A c.4150G>A (p.Glu1384Lys) c.*1193G>A (n.*1193G>A) n.4484G>A c.3682G>A (p.Glu1228Lys) c.3115G>A (p.Glu1039Lys) | dbSNP gnomAD v4 |
| 1 | g.11157259G>A | CA589654 | MTOR | c.4362C>T (p.His1454=) n.282C>T c.4149C>T (p.His1383=) c.*1192C>T (n.*1192C>T) n.4483C>T c.3681C>T (p.His1227=) c.3114C>T (p.His1038=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11157259G>C | CA338372073 | MTOR | c.4362C>G (p.His1454Gln) n.282C>G c.4149C>G (p.His1383Gln) c.*1192C>G (n.*1192C>G) n.4483C>G c.3681C>G (p.His1227Gln) c.3114C>G (p.His1038Gln) | dbSNP |
| 1 | g.11157259G= | CA1153537969 | MTOR | c.4362C= (p.His1454=) n.282C= c.4149C= (p.His1383=) c.*1192C= (n.*1192C=) n.4483C= c.3681C= (p.His1227=) c.3114C= (p.His1038=) | |
| 1 | g.11157259G>T | CA338372076 | MTOR | c.4362C>A (p.His1454Gln) n.282C>A c.4149C>A (p.His1383Gln) c.*1192C>A (n.*1192C>A) n.4483C>A c.3681C>A (p.His1227Gln) c.3114C>A (p.His1038Gln) | dbSNP |
| 1 | g.11157260T>A | CA338372079 | MTOR | c.4361A>T (p.His1454Leu) n.281A>T c.4148A>T (p.His1383Leu) c.*1191A>T (n.*1191A>T) n.4482A>T c.3680A>T (p.His1227Leu) c.3113A>T (p.His1038Leu) | dbSNP |
| 1 | g.11157260T>C | CA338372083 | MTOR | c.4361A>G (p.His1454Arg) n.281A>G c.4148A>G (p.His1383Arg) c.*1191A>G (n.*1191A>G) n.4482A>G c.3680A>G (p.His1227Arg) c.3113A>G (p.His1038Arg) | dbSNP |
| 1 | g.11157260T>G | CA338372085 | MTOR | c.4361A>C (p.His1454Pro) n.281A>C c.4148A>C (p.His1383Pro) c.*1191A>C (n.*1191A>C) n.4482A>C c.3680A>C (p.His1227Pro) c.3113A>C (p.His1038Pro) | dbSNP |
| 1 | g.11157261G>A | CA338372089 | MTOR | c.4360C>T (p.His1454Tyr) n.280C>T c.4147C>T (p.His1383Tyr) c.*1190C>T (n.*1190C>T) n.4481C>T c.3679C>T (p.His1227Tyr) c.3112C>T (p.His1038Tyr) | ClinVar dbSNP |
| 1 | g.11157261G>C | CA338372091 | MTOR | c.4360C>G (p.His1454Asp) n.280C>G c.4147C>G (p.His1383Asp) c.*1190C>G (n.*1190C>G) n.4481C>G c.3679C>G (p.His1227Asp) c.3112C>G (p.His1038Asp) | dbSNP |
| 1 | g.11157261G>T | CA338372094 | MTOR | c.4360C>A (p.His1454Asn) n.280C>A c.4147C>A (p.His1383Asn) c.*1190C>A (n.*1190C>A) n.4481C>A c.3679C>A (p.His1227Asn) c.3112C>A (p.His1038Asn) | |
| 1 | g.11157262C>A | CA415913712 | MTOR | c.4359G>T (p.Leu1453=) n.279G>T c.4146G>T (p.Leu1382=) c.*1189G>T (n.*1189G>T) n.4480G>T c.3678G>T (p.Leu1226=) c.3111G>T (p.Leu1037=) | dbSNP |
| 1 | g.11157262C= | CA1153537978 | MTOR | c.4359G= (p.Leu1453=) n.279G= c.4146G= (p.Leu1382=) c.*1189G= (n.*1189G=) n.4480G= c.3678G= (p.Leu1226=) c.3111G= (p.Leu1037=) | |
| 1 | g.11157262C>G | CA415913710 | MTOR | c.4359G>C (p.Leu1453=) n.279G>C c.4146G>C (p.Leu1382=) c.*1189G>C (n.*1189G>C) n.4480G>C c.3678G>C (p.Leu1226=) c.3111G>C (p.Leu1037=) | dbSNP |
| 1 | g.11157262C>T | CA17913617 | MTOR | c.4359G>A (p.Leu1453=) n.279G>A c.4146G>A (p.Leu1382=) c.*1189G>A (n.*1189G>A) n.4480G>A c.3678G>A (p.Leu1226=) c.3111G>A (p.Leu1037=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11157263A= | CA1153537985 | MTOR | c.4358T= (p.Leu1453=) n.278T= c.4145T= (p.Leu1382=) c.*1188T= (n.*1188T=) n.4479T= c.3677T= (p.Leu1226=) c.3110T= (p.Leu1037=) | |
| 1 | g.11157263A>C | CA338372097 | MTOR | c.4358T>G (p.Leu1453Arg) n.278T>G c.4145T>G (p.Leu1382Arg) c.*1188T>G (n.*1188T>G) n.4479T>G c.3677T>G (p.Leu1226Arg) c.3110T>G (p.Leu1037Arg) | dbSNP |
| 1 | g.11157263A>G | CA338372102 | MTOR | c.4358T>C (p.Leu1453Pro) n.278T>C c.4145T>C (p.Leu1382Pro) c.*1188T>C (n.*1188T>C) n.4479T>C c.3677T>C (p.Leu1226Pro) c.3110T>C (p.Leu1037Pro) | ClinVar dbSNP COSMIC |
| 1 | g.11157263A>T | CA338372103 | MTOR | c.4358T>A (p.Leu1453Gln) n.278T>A c.4145T>A (p.Leu1382Gln) c.*1188T>A (n.*1188T>A) n.4479T>A c.3677T>A (p.Leu1226Gln) c.3110T>A (p.Leu1037Gln) | dbSNP |
| 1 | g.11157264G>A | CA415913719 | MTOR | c.4357C>T (p.Leu1453=) n.277C>T c.4144C>T (p.Leu1382=) c.*1187C>T (n.*1187C>T) n.4478C>T c.3676C>T (p.Leu1226=) c.3109C>T (p.Leu1037=) | |
| 1 | g.11157264G>C | CA338372106 | MTOR | c.4357C>G (p.Leu1453Val) n.277C>G c.4144C>G (p.Leu1382Val) c.*1187C>G (n.*1187C>G) n.4478C>G c.3676C>G (p.Leu1226Val) c.3109C>G (p.Leu1037Val) | |
| 1 | g.11157264G>T | CA338372108 | MTOR | c.4357C>A (p.Leu1453Met) n.277C>A c.4144C>A (p.Leu1382Met) c.*1187C>A (n.*1187C>A) n.4478C>A c.3676C>A (p.Leu1226Met) c.3109C>A (p.Leu1037Met) | |
| 1 | g.11157265T>A | CA338372112 | MTOR | c.4356A>T (p.Lys1452Asn) n.276A>T c.4143A>T (p.Lys1381Asn) c.*1186A>T (n.*1186A>T) n.4477A>T c.3675A>T (p.Lys1225Asn) c.3108A>T (p.Lys1036Asn) | ClinVar dbSNP COSMIC |
| 1 | g.11157265T>C | CA415913724 | MTOR | c.4356A>G (p.Lys1452=) n.276A>G c.4143A>G (p.Lys1381=) c.*1186A>G (n.*1186A>G) n.4477A>G c.3675A>G (p.Lys1225=) c.3108A>G (p.Lys1036=) | |
| 1 | g.11157265T>G | CA338372120 | MTOR | c.4356A>C (p.Lys1452Asn) n.276A>C c.4143A>C (p.Lys1381Asn) c.*1186A>C (n.*1186A>C) n.4477A>C c.3675A>C (p.Lys1225Asn) c.3108A>C (p.Lys1036Asn) | |
| 1 | g.11157265T= | CA1153537992 | MTOR | c.4356A= (p.Lys1452=) n.276A= c.4143A= (p.Lys1381=) c.*1186A= (n.*1186A=) n.4477A= c.3675A= (p.Lys1225=) c.3108A= (p.Lys1036=) | |
| 1 | g.11157266T>A | CA338372123 | MTOR | c.4355A>T (p.Lys1452Ile) n.275A>T c.4142A>T (p.Lys1381Ile) c.*1185A>T (n.*1185A>T) n.4476A>T c.3674A>T (p.Lys1225Ile) c.3107A>T (p.Lys1036Ile) | dbSNP |
| 1 | g.11157266T>C | CA338372126 | MTOR | c.4355A>G (p.Lys1452Arg) n.275A>G c.4142A>G (p.Lys1381Arg) c.*1185A>G (n.*1185A>G) n.4476A>G c.3674A>G (p.Lys1225Arg) c.3107A>G (p.Lys1036Arg) | dbSNP |
| 1 | g.11157266T>G | CA338372129 | MTOR | c.4355A>C (p.Lys1452Thr) n.275A>C c.4142A>C (p.Lys1381Thr) c.*1185A>C (n.*1185A>C) n.4476A>C c.3674A>C (p.Lys1225Thr) c.3107A>C (p.Lys1036Thr) | |
| 1 | g.11157267T>A | CA338372131 | MTOR | c.4354A>T (p.Lys1452Ter) n.274A>T c.4141A>T (p.Lys1381Ter) c.*1184A>T (n.*1184A>T) n.4475A>T c.3673A>T (p.Lys1225Ter) c.3106A>T (p.Lys1036Ter) | |
| 1 | g.11157267T>C | CA338372134 | MTOR | c.4354A>G (p.Lys1452Glu) n.274A>G c.4141A>G (p.Lys1381Glu) c.*1184A>G (n.*1184A>G) n.4475A>G c.3673A>G (p.Lys1225Glu) c.3106A>G (p.Lys1036Glu) | dbSNP |
| 1 | g.11157267T>G | CA338372137 | MTOR | c.4354A>C (p.Lys1452Gln) n.274A>C c.4141A>C (p.Lys1381Gln) c.*1184A>C (n.*1184A>C) n.4475A>C c.3673A>C (p.Lys1225Gln) c.3106A>C (p.Lys1036Gln) | |
| 1 | g.11157268C>A | CA338372139 | MTOR | c.4353G>T (p.Glu1451Asp) n.273G>T c.4140G>T (p.Glu1380Asp) c.*1183G>T (n.*1183G>T) n.4474G>T c.3672G>T (p.Glu1224Asp) c.3105G>T (p.Glu1035Asp) | |
| 1 | g.11157268C>G | CA338372140 | MTOR | c.4353G>C (p.Glu1451Asp) n.273G>C c.4140G>C (p.Glu1380Asp) c.*1183G>C (n.*1183G>C) n.4474G>C c.3672G>C (p.Glu1224Asp) c.3105G>C (p.Glu1035Asp) | dbSNP |
| 1 | g.11157268C>T | CA415913748 | MTOR | c.4353G>A (p.Glu1451=) n.273G>A c.4140G>A (p.Glu1380=) c.*1183G>A (n.*1183G>A) n.4474G>A c.3672G>A (p.Glu1224=) c.3105G>A (p.Glu1035=) | dbSNP |
| 1 | g.11157269T>A | CA338372142 | MTOR | c.4352A>T (p.Glu1451Val) n.272A>T c.4139A>T (p.Glu1380Val) c.*1182A>T (n.*1182A>T) n.4473A>T c.3671A>T (p.Glu1224Val) c.3104A>T (p.Glu1035Val) | dbSNP |