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 |
|---|---|---|---|---|---|
| 11 | g.66850071C>A | CA381492077 | PC | c.2764G>T (p.Val922Leu) n.290-6G>T c.*773G>T (n.*773G>T) c.*1240G>T (n.*1240G>T) c.124G>T (p.Val42Leu) c.1243G>T (p.Val415Leu) c.1468G>T (p.Val490Leu) c.1399G>T (p.Val467Leu) | dbSNP |
| 11 | g.66850071C= | CA1979910252 | PC | c.2764G= (p.Val922=) n.290-6G= c.*773G= (n.*773G=) c.*1240G= (n.*1240G=) c.124G= (p.Val42=) c.1243G= (p.Val415=) c.1468G= (p.Val490=) c.1399G= (p.Val467=) | |
| 11 | g.66850071C>G | CA381492078 | PC | c.2764G>C (p.Val922Leu) n.290-6G>C c.*773G>C (n.*773G>C) c.*1240G>C (n.*1240G>C) c.124G>C (p.Val42Leu) c.1243G>C (p.Val415Leu) c.1468G>C (p.Val490Leu) c.1399G>C (p.Val467Leu) | |
| 11 | g.66850071C>T | CA381492079 | PC | c.2764G>A (p.Val922Met) n.290-6G>A c.*773G>A (n.*773G>A) c.*1240G>A (n.*1240G>A) c.124G>A (p.Val42Met) c.1243G>A (p.Val415Met) c.1468G>A (p.Val490Met) c.1399G>A (p.Val467Met) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66850072C>A | CA381492081 | PC | c.2763G>T (p.Met921Ile) n.290-7G>T c.*772G>T (n.*772G>T) c.*1239G>T (n.*1239G>T) c.123G>T (p.Met41Ile) c.1242G>T (p.Met414Ile) c.1467G>T (p.Met489Ile) c.1398G>T (p.Met466Ile) | |
| 11 | g.66850072C>G | CA381492083 | PC | c.2763G>C (p.Met921Ile) n.290-7G>C c.*772G>C (n.*772G>C) c.*1239G>C (n.*1239G>C) c.123G>C (p.Met41Ile) c.1242G>C (p.Met414Ile) c.1467G>C (p.Met489Ile) c.1398G>C (p.Met466Ile) | |
| 11 | g.66850072C>T | CA381492084 | PC | c.2763G>A (p.Met921Ile) n.290-7G>A c.*772G>A (n.*772G>A) c.*1239G>A (n.*1239G>A) c.123G>A (p.Met41Ile) c.1242G>A (p.Met414Ile) c.1467G>A (p.Met489Ile) c.1398G>A (p.Met466Ile) | |
| 11 | g.66850073A>C | CA381492087 | PC | c.2762T>G (p.Met921Arg) n.290-8T>G c.*771T>G (n.*771T>G) c.*1238T>G (n.*1238T>G) c.122T>G (p.Met41Arg) c.1241T>G (p.Met414Arg) c.1466T>G (p.Met489Arg) c.1397T>G (p.Met466Arg) | |
| 11 | g.66850073A>G | CA381492088 | PC | c.2762T>C (p.Met921Thr) n.290-8T>C c.*771T>C (n.*771T>C) c.*1238T>C (n.*1238T>C) c.122T>C (p.Met41Thr) c.1241T>C (p.Met414Thr) c.1466T>C (p.Met489Thr) c.1397T>C (p.Met466Thr) | |
| 11 | g.66850073A>T | CA381492086 | PC | c.2762T>A (p.Met921Lys) n.290-8T>A c.*771T>A (n.*771T>A) c.*1238T>A (n.*1238T>A) c.122T>A (p.Met41Lys) c.1241T>A (p.Met414Lys) c.1466T>A (p.Met489Lys) c.1397T>A (p.Met466Lys) | |
| 11 | g.66850074T>A | CA381492092 | PC | c.2761A>T (p.Met921Leu) n.290-9A>T c.*770A>T (n.*770A>T) c.*1237A>T (n.*1237A>T) c.121A>T (p.Met41Leu) c.1240A>T (p.Met414Leu) c.1465A>T (p.Met489Leu) c.1396A>T (p.Met466Leu) | |
| 11 | g.66850074T>C | CA381492090 | PC | c.2761A>G (p.Met921Val) n.290-9A>G c.*770A>G (n.*770A>G) c.*1237A>G (n.*1237A>G) c.121A>G (p.Met41Val) c.1240A>G (p.Met414Val) c.1465A>G (p.Met489Val) c.1396A>G (p.Met466Val) | |
| 11 | g.66850074T>G | CA381492094 | PC | c.2761A>C (p.Met921Leu) n.290-9A>C c.*770A>C (n.*770A>C) c.*1237A>C (n.*1237A>C) c.121A>C (p.Met41Leu) c.1240A>C (p.Met414Leu) c.1465A>C (p.Met489Leu) c.1396A>C (p.Met466Leu) | |
| 11 | g.66850075A= | CA1979910263 | PC | c.2760T= (p.Phe920=) n.290-10T= c.*769T= (n.*769T=) c.*1236T= (n.*1236T=) c.120T= (p.Phe40=) c.1239T= (p.Phe413=) c.1464T= (p.Phe488=) c.1395T= (p.Phe465=) | |
| 11 | g.66850075A>C | CA381492095 | PC | c.2760T>G (p.Phe920Leu) n.290-10T>G c.*769T>G (n.*769T>G) c.*1236T>G (n.*1236T>G) c.120T>G (p.Phe40Leu) c.1239T>G (p.Phe413Leu) c.1464T>G (p.Phe488Leu) c.1395T>G (p.Phe465Leu) | |
| 11 | g.66850075A>G | CA475501234 | PC | c.2760T>C (p.Phe920=) n.290-10T>C c.*769T>C (n.*769T>C) c.*1236T>C (n.*1236T>C) c.120T>C (p.Phe40=) c.1239T>C (p.Phe413=) c.1464T>C (p.Phe488=) c.1395T>C (p.Phe465=) | dbSNP |
| 11 | g.66850075A>T | CA381492096 | PC | c.2760T>A (p.Phe920Leu) n.290-10T>A c.*769T>A (n.*769T>A) c.*1236T>A (n.*1236T>A) c.120T>A (p.Phe40Leu) c.1239T>A (p.Phe413Leu) c.1464T>A (p.Phe488Leu) c.1395T>A (p.Phe465Leu) | |
| 11 | g.66850076A>C | CA381492097 | PC | c.2759T>G (p.Phe920Cys) n.290-11T>G c.*768T>G (n.*768T>G) c.*1235T>G (n.*1235T>G) c.119T>G (p.Phe40Cys) c.1238T>G (p.Phe413Cys) c.1463T>G (p.Phe488Cys) c.1394T>G (p.Phe465Cys) | gnomAD v4 |
| 11 | g.66850076A>G | CA381492098 | PC | c.2759T>C (p.Phe920Ser) n.290-11T>C c.*768T>C (n.*768T>C) c.*1235T>C (n.*1235T>C) c.119T>C (p.Phe40Ser) c.1238T>C (p.Phe413Ser) c.1463T>C (p.Phe488Ser) c.1394T>C (p.Phe465Ser) | |
| 11 | g.66850076A>T | CA381492099 | PC | c.2759T>A (p.Phe920Tyr) n.290-11T>A c.*768T>A (n.*768T>A) c.*1235T>A (n.*1235T>A) c.119T>A (p.Phe40Tyr) c.1238T>A (p.Phe413Tyr) c.1463T>A (p.Phe488Tyr) c.1394T>A (p.Phe465Tyr) | |
| 11 | g.66850077A>C | CA381492101 | PC | c.2758T>G (p.Phe920Val) n.290-12T>G c.*767T>G (n.*767T>G) c.*1234T>G (n.*1234T>G) c.118T>G (p.Phe40Val) c.1237T>G (p.Phe413Val) c.1462T>G (p.Phe488Val) c.1393T>G (p.Phe465Val) | |
| 11 | g.66850077A>G | CA381492102 | PC | c.2758T>C (p.Phe920Leu) n.290-12T>C c.*767T>C (n.*767T>C) c.*1234T>C (n.*1234T>C) c.118T>C (p.Phe40Leu) c.1237T>C (p.Phe413Leu) c.1462T>C (p.Phe488Leu) c.1393T>C (p.Phe465Leu) | |
| 11 | g.66850077A>T | CA381492103 | PC | c.2758T>A (p.Phe920Ile) n.290-12T>A c.*767T>A (n.*767T>A) c.*1234T>A (n.*1234T>A) c.118T>A (p.Phe40Ile) c.1237T>A (p.Phe413Ile) c.1462T>A (p.Phe488Ile) c.1393T>A (p.Phe465Ile) | |
| 11 | g.66850078C>A | CA381492104 | PC | c.2757G>T (p.Gln919His) n.290-13G>T c.*766G>T (n.*766G>T) c.*1233G>T (n.*1233G>T) c.117G>T (p.Gln39His) c.1236G>T (p.Gln412His) c.1461G>T (p.Gln487His) c.1392G>T (p.Gln464His) | gnomAD v4 |
| 11 | g.66850078C>G | CA381492106 | PC | c.2757G>C (p.Gln919His) n.290-13G>C c.*766G>C (n.*766G>C) c.*1233G>C (n.*1233G>C) c.117G>C (p.Gln39His) c.1236G>C (p.Gln412His) c.1461G>C (p.Gln487His) c.1392G>C (p.Gln464His) | |
| 11 | g.66850078C>T | CA475501238 | PC | c.2757G>A (p.Gln919=) n.290-13G>A c.*766G>A (n.*766G>A) c.*1233G>A (n.*1233G>A) c.117G>A (p.Gln39=) c.1236G>A (p.Gln412=) c.1461G>A (p.Gln487=) c.1392G>A (p.Gln464=) | |
| 11 | g.66850079T>A | CA381492108 | PC | c.2756A>T (p.Gln919Leu) n.290-14A>T c.*765A>T (n.*765A>T) c.*1232A>T (n.*1232A>T) c.116A>T (p.Gln39Leu) c.1235A>T (p.Gln412Leu) c.1460A>T (p.Gln487Leu) c.1391A>T (p.Gln464Leu) | |
| 11 | g.66850079T>C | CA381492110 | PC | c.2756A>G (p.Gln919Arg) n.290-14A>G c.*765A>G (n.*765A>G) c.*1232A>G (n.*1232A>G) c.116A>G (p.Gln39Arg) c.1235A>G (p.Gln412Arg) c.1460A>G (p.Gln487Arg) c.1391A>G (p.Gln464Arg) | |
| 11 | g.66850079T>G | CA381492111 | PC | c.2756A>C (p.Gln919Pro) n.290-14A>C c.*765A>C (n.*765A>C) c.*1232A>C (n.*1232A>C) c.116A>C (p.Gln39Pro) c.1235A>C (p.Gln412Pro) c.1460A>C (p.Gln487Pro) c.1391A>C (p.Gln464Pro) | |
| 11 | g.66850080G>A | CA381492112 | PC | c.2755C>T (p.Gln919Ter) n.290-15C>T c.*764C>T (n.*764C>T) c.*1231C>T (n.*1231C>T) c.115C>T (p.Gln39Ter) c.1234C>T (p.Gln412Ter) c.1459C>T (p.Gln487Ter) c.1390C>T (p.Gln464Ter) | |
| 11 | g.66850080G>C | CA381492116 | PC | c.2755C>G (p.Gln919Glu) n.290-15C>G c.*764C>G (n.*764C>G) c.*1231C>G (n.*1231C>G) c.115C>G (p.Gln39Glu) c.1234C>G (p.Gln412Glu) c.1459C>G (p.Gln487Glu) c.1390C>G (p.Gln464Glu) | |
| 11 | g.66850080G= | CA1979910267 | PC | c.2755C= (p.Gln919=) n.290-15C= c.*764C= (n.*764C=) c.*1231C= (n.*1231C=) c.115C= (p.Gln39=) c.1234C= (p.Gln412=) c.1459C= (p.Gln487=) c.1390C= (p.Gln464=) | |
| 11 | g.66850080G>T | CA381492114 | PC | c.2755C>A (p.Gln919Lys) n.290-15C>A c.*764C>A (n.*764C>A) c.*1231C>A (n.*1231C>A) c.115C>A (p.Gln39Lys) c.1234C>A (p.Gln412Lys) c.1459C>A (p.Gln487Lys) c.1390C>A (p.Gln464Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66850081G>A | CA6130979 | PC | c.2754C>T (p.Ala918=) n.290-16C>T c.*763C>T (n.*763C>T) c.*1230C>T (n.*1230C>T) c.114C>T (p.Ala38=) c.1233C>T (p.Ala411=) c.1458C>T (p.Ala486=) c.1389C>T (p.Ala463=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850081G>C | CA475501240 | PC | c.2754C>G (p.Ala918=) n.290-16C>G c.*763C>G (n.*763C>G) c.*1230C>G (n.*1230C>G) c.114C>G (p.Ala38=) c.1233C>G (p.Ala411=) c.1458C>G (p.Ala486=) c.1389C>G (p.Ala463=) | |
| 11 | g.66850081G= | CA1979910270 | PC | c.2754C= (p.Ala918=) n.290-16C= c.*763C= (n.*763C=) c.*1230C= (n.*1230C=) c.114C= (p.Ala38=) c.1233C= (p.Ala411=) c.1458C= (p.Ala486=) c.1389C= (p.Ala463=) | |
| 11 | g.66850081G>T | CA475501241 | PC | c.2754C>A (p.Ala918=) n.290-16C>A c.*763C>A (n.*763C>A) c.*1230C>A (n.*1230C>A) c.114C>A (p.Ala38=) c.1233C>A (p.Ala411=) c.1458C>A (p.Ala486=) c.1389C>A (p.Ala463=) | |
| 11 | g.66850082G>A | CA381492118 | PC | c.2753C>T (p.Ala918Val) n.290-17C>T c.*762C>T (n.*762C>T) c.*1229C>T (n.*1229C>T) c.113C>T (p.Ala38Val) c.1232C>T (p.Ala411Val) c.1457C>T (p.Ala486Val) c.1388C>T (p.Ala463Val) | |
| 11 | g.66850082G>C | CA381492119 | PC | c.2753C>G (p.Ala918Gly) n.290-17C>G c.*762C>G (n.*762C>G) c.*1229C>G (n.*1229C>G) c.113C>G (p.Ala38Gly) c.1232C>G (p.Ala411Gly) c.1457C>G (p.Ala486Gly) c.1388C>G (p.Ala463Gly) | |
| 11 | g.66850082G>T | CA381492120 | PC | c.2753C>A (p.Ala918Asp) n.290-17C>A c.*762C>A (n.*762C>A) c.*1229C>A (n.*1229C>A) c.113C>A (p.Ala38Asp) c.1232C>A (p.Ala411Asp) c.1457C>A (p.Ala486Asp) c.1388C>A (p.Ala463Asp) | |
| 11 | g.66850088_66850150del | CA2792479680 | PC | c.2719-28_2753del n.290-79_290-17del c.*728-28_*762del c.*1195-28_*1229del c.79-28_113del c.1198-28_1232del c.1423-28_1457del c.1354-28_1388del | |
| 11 | g.66850083C>A | CA381492121 | PC | c.2752G>T (p.Ala918Ser) n.290-18G>T c.*761G>T (n.*761G>T) c.*1228G>T (n.*1228G>T) c.112G>T (p.Ala38Ser) c.1231G>T (p.Ala411Ser) c.1456G>T (p.Ala486Ser) c.1387G>T (p.Ala463Ser) | |
| 11 | g.66850083C>G | CA381492122 | PC | c.2752G>C (p.Ala918Pro) n.290-18G>C c.*761G>C (n.*761G>C) c.*1228G>C (n.*1228G>C) c.112G>C (p.Ala38Pro) c.1231G>C (p.Ala411Pro) c.1456G>C (p.Ala486Pro) c.1387G>C (p.Ala463Pro) | |
| 11 | g.66850083C>T | CA381492123 | PC | c.2752G>A (p.Ala918Thr) n.290-18G>A c.*761G>A (n.*761G>A) c.*1228G>A (n.*1228G>A) c.112G>A (p.Ala38Thr) c.1231G>A (p.Ala411Thr) c.1456G>A (p.Ala486Thr) c.1387G>A (p.Ala463Thr) | |
| 11 | g.66850084C>A | CA475501245 | PC | c.2751G>T (p.Leu917=) n.290-19G>T c.*760G>T (n.*760G>T) c.*1227G>T (n.*1227G>T) c.111G>T (p.Leu37=) c.1230G>T (p.Leu410=) c.1455G>T (p.Leu485=) c.1386G>T (p.Leu462=) | |
| 11 | g.66850084C>G | CA475501243 | PC | c.2751G>C (p.Leu917=) n.290-19G>C c.*760G>C (n.*760G>C) c.*1227G>C (n.*1227G>C) c.111G>C (p.Leu37=) c.1230G>C (p.Leu410=) c.1455G>C (p.Leu485=) c.1386G>C (p.Leu462=) | |
| 11 | g.66850084C>T | CA475501244 | PC | c.2751G>A (p.Leu917=) n.290-19G>A c.*760G>A (n.*760G>A) c.*1227G>A (n.*1227G>A) c.111G>A (p.Leu37=) c.1230G>A (p.Leu410=) c.1455G>A (p.Leu485=) c.1386G>A (p.Leu462=) | |
| 11 | g.66850085A>C | CA381492124 | PC | c.2750T>G (p.Leu917Arg) n.290-20T>G c.*759T>G (n.*759T>G) c.*1226T>G (n.*1226T>G) c.110T>G (p.Leu37Arg) c.1229T>G (p.Leu410Arg) c.1454T>G (p.Leu485Arg) c.1385T>G (p.Leu462Arg) | |
| 11 | g.66850085A>G | CA381492125 | PC | c.2750T>C (p.Leu917Pro) n.290-20T>C c.*759T>C (n.*759T>C) c.*1226T>C (n.*1226T>C) c.110T>C (p.Leu37Pro) c.1229T>C (p.Leu410Pro) c.1454T>C (p.Leu485Pro) c.1385T>C (p.Leu462Pro) | |
| 11 | g.66850085A>T | CA381492126 | PC | c.2750T>A (p.Leu917Gln) n.290-20T>A c.*759T>A (n.*759T>A) c.*1226T>A (n.*1226T>A) c.110T>A (p.Leu37Gln) c.1229T>A (p.Leu410Gln) c.1454T>A (p.Leu485Gln) c.1385T>A (p.Leu462Gln) |