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.11157155T>A | CA338371461 | MTOR | c.4466A>T (p.Glu1489Val) n.386A>T c.4253A>T (p.Glu1418Val) c.*1296A>T (n.*1296A>T) n.4587A>T c.3785A>T (p.Glu1262Val) c.3218A>T (p.Glu1073Val) | |
| 1 | g.11157155T>C | CA338371464 | MTOR | c.4466A>G (p.Glu1489Gly) n.386A>G c.4253A>G (p.Glu1418Gly) c.*1296A>G (n.*1296A>G) n.4587A>G c.3785A>G (p.Glu1262Gly) c.3218A>G (p.Glu1073Gly) | ClinVar gnomAD v4 |
| 1 | g.11157155T>G | CA338371466 | MTOR | c.4466A>C (p.Glu1489Ala) n.386A>C c.4253A>C (p.Glu1418Ala) c.*1296A>C (n.*1296A>C) n.4587A>C c.3785A>C (p.Glu1262Ala) c.3218A>C (p.Glu1073Ala) | |
| 1 | g.11157156C>A | CA338371469 | MTOR | c.4465G>T (p.Glu1489Ter) n.385G>T c.4252G>T (p.Glu1418Ter) c.*1295G>T (n.*1295G>T) n.4586G>T c.3784G>T (p.Glu1262Ter) c.3217G>T (p.Glu1073Ter) | dbSNP gnomAD v4 |
| 1 | g.11157156C>G | CA338371471 | MTOR | c.4465G>C (p.Glu1489Gln) n.385G>C c.4252G>C (p.Glu1418Gln) c.*1295G>C (n.*1295G>C) n.4586G>C c.3784G>C (p.Glu1262Gln) c.3217G>C (p.Glu1073Gln) | dbSNP |
| 1 | g.11157156C>T | CA338371474 | MTOR | c.4465G>A (p.Glu1489Lys) n.385G>A c.4252G>A (p.Glu1418Lys) c.*1295G>A (n.*1295G>A) n.4586G>A c.3784G>A (p.Glu1262Lys) c.3217G>A (p.Glu1073Lys) | dbSNP gnomAD v4 |
| 1 | g.11157157C>A | CA415913542 | MTOR | c.4464G>T (p.Gly1488=) n.384G>T c.4251G>T (p.Gly1417=) c.*1294G>T (n.*1294G>T) n.4585G>T c.3783G>T (p.Gly1261=) c.3216G>T (p.Gly1072=) | dbSNP |
| 1 | g.11157157C= | CA1153537736 | MTOR | c.4464G= (p.Gly1488=) n.384G= c.4251G= (p.Gly1417=) c.*1294G= (n.*1294G=) n.4585G= c.3783G= (p.Gly1261=) c.3216G= (p.Gly1072=) | |
| 1 | g.11157157C>G | CA415913543 | MTOR | c.4464G>C (p.Gly1488=) n.384G>C c.4251G>C (p.Gly1417=) c.*1294G>C (n.*1294G>C) n.4585G>C c.3783G>C (p.Gly1261=) c.3216G>C (p.Gly1072=) | dbSNP |
| 1 | g.11157157C>T | CA415913545 | MTOR | c.4464G>A (p.Gly1488=) n.384G>A c.4251G>A (p.Gly1417=) c.*1294G>A (n.*1294G>A) n.4585G>A c.3783G>A (p.Gly1261=) c.3216G>A (p.Gly1072=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11157158C>A | CA338371476 | MTOR | c.4463G>T (p.Gly1488Val) n.383G>T c.4250G>T (p.Gly1417Val) c.*1293G>T (n.*1293G>T) n.4584G>T c.3782G>T (p.Gly1261Val) c.3215G>T (p.Gly1072Val) | dbSNP |
| 1 | g.11157158C>G | CA338371478 | MTOR | c.4463G>C (p.Gly1488Ala) n.383G>C c.4250G>C (p.Gly1417Ala) c.*1293G>C (n.*1293G>C) n.4584G>C c.3782G>C (p.Gly1261Ala) c.3215G>C (p.Gly1072Ala) | dbSNP |
| 1 | g.11157158C>T | CA338371480 | MTOR | c.4463G>A (p.Gly1488Glu) n.383G>A c.4250G>A (p.Gly1417Glu) c.*1293G>A (n.*1293G>A) n.4584G>A c.3782G>A (p.Gly1261Glu) c.3215G>A (p.Gly1072Glu) | dbSNP |
| 1 | g.11157159C>A | CA338371484 | MTOR | c.4462G>T (p.Gly1488Trp) n.382G>T c.4249G>T (p.Gly1417Trp) c.*1292G>T (n.*1292G>T) n.4583G>T c.3781G>T (p.Gly1261Trp) c.3214G>T (p.Gly1072Trp) | dbSNP |
| 1 | g.11157159C>G | CA338371485 | MTOR | c.4462G>C (p.Gly1488Arg) n.382G>C c.4249G>C (p.Gly1417Arg) c.*1292G>C (n.*1292G>C) n.4583G>C c.3781G>C (p.Gly1261Arg) c.3214G>C (p.Gly1072Arg) | dbSNP |
| 1 | g.11157159C>T | CA338371488 | MTOR | c.4462G>A (p.Gly1488Arg) n.382G>A c.4249G>A (p.Gly1417Arg) c.*1292G>A (n.*1292G>A) n.4583G>A c.3781G>A (p.Gly1261Arg) c.3214G>A (p.Gly1072Arg) | dbSNP |
| 1 | g.11157160C>A | CA338371491 | MTOR | c.4461G>T (p.Leu1487Phe) n.381G>T c.4248G>T (p.Leu1416Phe) c.*1291G>T (n.*1291G>T) n.4582G>T c.3780G>T (p.Leu1260Phe) c.3213G>T (p.Leu1071Phe) | dbSNP |
| 1 | g.11157160C= | CA1153537738 | MTOR | c.4461G= (p.Leu1487=) n.381G= c.4248G= (p.Leu1416=) c.*1291G= (n.*1291G=) n.4582G= c.3780G= (p.Leu1260=) c.3213G= (p.Leu1071=) | |
| 1 | g.11157160C>G | CA338371494 | MTOR | c.4461G>C (p.Leu1487Phe) n.381G>C c.4248G>C (p.Leu1416Phe) c.*1291G>C (n.*1291G>C) n.4582G>C c.3780G>C (p.Leu1260Phe) c.3213G>C (p.Leu1071Phe) | dbSNP |
| 1 | g.11157160C>T | CA415913549 | MTOR | c.4461G>A (p.Leu1487=) n.381G>A c.4248G>A (p.Leu1416=) c.*1291G>A (n.*1291G>A) n.4582G>A c.3780G>A (p.Leu1260=) c.3213G>A (p.Leu1071=) | dbSNP |
| 1 | g.11157161A>C | CA338371498 | MTOR | c.4460T>G (p.Leu1487Trp) n.380T>G c.4247T>G (p.Leu1416Trp) c.*1290T>G (n.*1290T>G) n.4581T>G c.3779T>G (p.Leu1260Trp) c.3212T>G (p.Leu1071Trp) | dbSNP |
| 1 | g.11157161A>G | CA338371507 | MTOR | c.4460T>C (p.Leu1487Ser) n.380T>C c.4247T>C (p.Leu1416Ser) c.*1290T>C (n.*1290T>C) n.4581T>C c.3779T>C (p.Leu1260Ser) c.3212T>C (p.Leu1071Ser) | dbSNP |
| 1 | g.11157161A>T | CA338371508 | MTOR | c.4460T>A (p.Leu1487Ter) n.380T>A c.4247T>A (p.Leu1416Ter) c.*1290T>A (n.*1290T>A) n.4581T>A c.3779T>A (p.Leu1260Ter) c.3212T>A (p.Leu1071Ter) | dbSNP |
| 1 | g.11157162A>C | CA338371509 | MTOR | c.4459T>G (p.Leu1487Val) n.379T>G c.4246T>G (p.Leu1416Val) c.*1289T>G (n.*1289T>G) n.4580T>G c.3778T>G (p.Leu1260Val) c.3211T>G (p.Leu1071Val) | gnomAD v4 |
| 1 | g.11157162A>G | CA415913551 | MTOR | c.4459T>C (p.Leu1487=) n.379T>C c.4246T>C (p.Leu1416=) c.*1289T>C (n.*1289T>C) n.4580T>C c.3778T>C (p.Leu1260=) c.3211T>C (p.Leu1071=) | dbSNP |
| 1 | g.11157162A>T | CA338371510 | MTOR | c.4459T>A (p.Leu1487Met) n.379T>A c.4246T>A (p.Leu1416Met) c.*1289T>A (n.*1289T>A) n.4580T>A c.3778T>A (p.Leu1260Met) c.3211T>A (p.Leu1071Met) | dbSNP |
| 1 | g.11157163G>A | CA415913552 | MTOR | c.4458C>T (p.Ala1486=) n.378C>T c.4245C>T (p.Ala1415=) c.*1288C>T (n.*1288C>T) n.4579C>T c.3777C>T (p.Ala1259=) c.3210C>T (p.Ala1070=) | gnomAD v4 |
| 1 | g.11157163G>C | CA415913553 | MTOR | c.4458C>G (p.Ala1486=) n.378C>G c.4245C>G (p.Ala1415=) c.*1288C>G (n.*1288C>G) n.4579C>G c.3777C>G (p.Ala1259=) c.3210C>G (p.Ala1070=) | dbSNP |
| 1 | g.11157163G>T | CA415913554 | MTOR | c.4458C>A (p.Ala1486=) n.378C>A c.4245C>A (p.Ala1415=) c.*1288C>A (n.*1288C>A) n.4579C>A c.3777C>A (p.Ala1259=) c.3210C>A (p.Ala1070=) | dbSNP |
| 1 | g.11157164G>A | CA338371512 | MTOR | c.4457C>T (p.Ala1486Val) n.377C>T c.4244C>T (p.Ala1415Val) c.*1287C>T (n.*1287C>T) n.4578C>T c.3776C>T (p.Ala1259Val) c.3209C>T (p.Ala1070Val) | ClinVar dbSNP |
| 1 | g.11157164G>C | CA338371514 | MTOR | c.4457C>G (p.Ala1486Gly) n.377C>G c.4244C>G (p.Ala1415Gly) c.*1287C>G (n.*1287C>G) n.4578C>G c.3776C>G (p.Ala1259Gly) c.3209C>G (p.Ala1070Gly) | dbSNP |
| 1 | g.11157164G>T | CA338371515 | MTOR | c.4457C>A (p.Ala1486Asp) n.377C>A c.4244C>A (p.Ala1415Asp) c.*1287C>A (n.*1287C>A) n.4578C>A c.3776C>A (p.Ala1259Asp) c.3209C>A (p.Ala1070Asp) | dbSNP |
| 1 | g.11157165C>A | CA338371516 | MTOR | c.4456G>T (p.Ala1486Ser) n.376G>T c.4243G>T (p.Ala1415Ser) c.*1286G>T (n.*1286G>T) n.4577G>T c.3775G>T (p.Ala1259Ser) c.3208G>T (p.Ala1070Ser) | dbSNP |
| 1 | g.11157165C>G | CA338371519 | MTOR | c.4456G>C (p.Ala1486Pro) n.376G>C c.4243G>C (p.Ala1415Pro) c.*1286G>C (n.*1286G>C) n.4577G>C c.3775G>C (p.Ala1259Pro) c.3208G>C (p.Ala1070Pro) | dbSNP |
| 1 | g.11157165C>T | CA338371521 | MTOR | c.4456G>A (p.Ala1486Thr) n.376G>A c.4243G>A (p.Ala1415Thr) c.*1286G>A (n.*1286G>A) n.4577G>A c.3775G>A (p.Ala1259Thr) c.3208G>A (p.Ala1070Thr) | dbSNP |
| 1 | g.11157166C>A | CA338371522 | MTOR | c.4455G>T (p.Glu1485Asp) n.375G>T c.4242G>T (p.Glu1414Asp) c.*1285G>T (n.*1285G>T) n.4576G>T c.3774G>T (p.Glu1258Asp) c.3207G>T (p.Glu1069Asp) | |
| 1 | g.11157166C= | CA1153537741 | MTOR | c.4455G= (p.Glu1485=) n.375G= c.4242G= (p.Glu1414=) c.*1285G= (n.*1285G=) n.4576G= c.3774G= (p.Glu1258=) c.3207G= (p.Glu1069=) | |
| 1 | g.11157166C>G | CA338371525 | MTOR | c.4455G>C (p.Glu1485Asp) n.375G>C c.4242G>C (p.Glu1414Asp) c.*1285G>C (n.*1285G>C) n.4576G>C c.3774G>C (p.Glu1258Asp) c.3207G>C (p.Glu1069Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11157166C>T | CA415913558 | MTOR | c.4455G>A (p.Glu1485=) n.375G>A c.4242G>A (p.Glu1414=) c.*1285G>A (n.*1285G>A) n.4576G>A c.3774G>A (p.Glu1258=) c.3207G>A (p.Glu1069=) | |
| 1 | g.11157167T>A | CA338371531 | MTOR | c.4454A>T (p.Glu1485Val) n.374A>T c.4241A>T (p.Glu1414Val) c.*1284A>T (n.*1284A>T) n.4575A>T c.3773A>T (p.Glu1258Val) c.3206A>T (p.Glu1069Val) | dbSNP |
| 1 | g.11157167T>C | CA338371534 | MTOR | c.4454A>G (p.Glu1485Gly) n.374A>G c.4241A>G (p.Glu1414Gly) c.*1284A>G (n.*1284A>G) n.4575A>G c.3773A>G (p.Glu1258Gly) c.3206A>G (p.Glu1069Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11157167T>G | CA338371528 | MTOR | c.4454A>C (p.Glu1485Ala) n.374A>C c.4241A>C (p.Glu1414Ala) c.*1284A>C (n.*1284A>C) n.4575A>C c.3773A>C (p.Glu1258Ala) c.3206A>C (p.Glu1069Ala) | |
| 1 | g.11157167T= | CA1153537743 | MTOR | c.4454A= (p.Glu1485=) n.374A= c.4241A= (p.Glu1414=) c.*1284A= (n.*1284A=) n.4575A= c.3773A= (p.Glu1258=) c.3206A= (p.Glu1069=) | |
| 1 | g.11157168C>A | CA338371538 | MTOR | c.4453G>T (p.Glu1485Ter) n.373G>T c.4240G>T (p.Glu1414Ter) c.*1283G>T (n.*1283G>T) n.4574G>T c.3772G>T (p.Glu1258Ter) c.3205G>T (p.Glu1069Ter) | dbSNP |
| 1 | g.11157168C= | CA1153537746 | MTOR | c.4453G= (p.Glu1485=) n.373G= c.4240G= (p.Glu1414=) c.*1283G= (n.*1283G=) n.4574G= c.3772G= (p.Glu1258=) c.3205G= (p.Glu1069=) | |
| 1 | g.11157168C>G | CA589640 | MTOR | c.4453G>C (p.Glu1485Gln) n.373G>C c.4240G>C (p.Glu1414Gln) c.*1283G>C (n.*1283G>C) n.4574G>C c.3772G>C (p.Glu1258Gln) c.3205G>C (p.Glu1069Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11157168C>T | CA338371537 | MTOR | c.4453G>A (p.Glu1485Lys) n.373G>A c.4240G>A (p.Glu1414Lys) c.*1283G>A (n.*1283G>A) n.4574G>A c.3772G>A (p.Glu1258Lys) c.3205G>A (p.Glu1069Lys) | ClinVar dbSNP |
| 1 | g.11157169G>A | CA589641 | MTOR | c.4452C>T (p.Leu1484=) n.372C>T c.4239C>T (p.Leu1413=) c.*1282C>T (n.*1282C>T) n.4573C>T c.3771C>T (p.Leu1257=) c.3204C>T (p.Leu1068=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11157169G>C | CA589642 | MTOR | c.4452C>G (p.Leu1484=) n.372C>G c.4239C>G (p.Leu1413=) c.*1282C>G (n.*1282C>G) n.4573C>G c.3771C>G (p.Leu1257=) c.3204C>G (p.Leu1068=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11157169G= | CA1143359796 | MTOR | c.4452C= (p.Leu1484=) n.372C= c.4239C= (p.Leu1413=) c.*1282C= (n.*1282C=) n.4573C= c.3771C= (p.Leu1257=) c.3204C= (p.Leu1068=) |