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.114677924C>A | CA341748971 | AMPD1 | c.1198G>T (p.Ala400Ser) c.1210G>T (p.Ala404Ser) c.993G>T (n.993G>T) n.875G>T c.1297G>T (p.Ala433Ser) c.1309G>T (p.Ala437Ser) | |
| 1 | g.114677924C= | CA1190276596 | AMPD1 | c.1198G= (p.Ala400=) c.1210G= (p.Ala404=) c.993G= (n.993G=) n.875G= c.1297G= (p.Ala433=) c.1309G= (p.Ala437=) | |
| 1 | g.114677924C>G | CA341748970 | AMPD1 | c.1198G>C (p.Ala400Pro) c.1210G>C (p.Ala404Pro) c.993G>C (n.993G>C) n.875G>C c.1297G>C (p.Ala433Pro) c.1309G>C (p.Ala437Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.114677924C>T | CA1020192 | AMPD1 | c.1198G>A (p.Ala400Thr) c.1210G>A (p.Ala404Thr) c.993G>A (n.993G>A) n.875G>A c.1297G>A (p.Ala433Thr) c.1309G>A (p.Ala437Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.114677925A= | CA1190276597 | AMPD1 | c.1197T= (p.Phe399=) c.1209T= (p.Phe403=) c.992T= (n.992T=) n.874T= c.1296T= (p.Phe432=) c.1308T= (p.Phe436=) | |
| 1 | g.114677925A>C | CA341748972 | AMPD1 | c.1197T>G (p.Phe399Leu) c.1209T>G (p.Phe403Leu) c.992T>G (n.992T>G) n.874T>G c.1296T>G (p.Phe432Leu) c.1308T>G (p.Phe436Leu) | |
| 1 | g.114677925A>G | CA419883085 | AMPD1 | c.1197T>C (p.Phe399=) c.1209T>C (p.Phe403=) c.992T>C (n.992T>C) n.874T>C c.1296T>C (p.Phe432=) c.1308T>C (p.Phe436=) | dbSNP gnomAD v2 |
| 1 | g.114677925A>T | CA341748973 | AMPD1 | c.1197T>A (p.Phe399Leu) c.1209T>A (p.Phe403Leu) c.992T>A (n.992T>A) n.874T>A c.1296T>A (p.Phe432Leu) c.1308T>A (p.Phe436Leu) | |
| 1 | g.114677926A>C | CA341748974 | AMPD1 | c.1196T>G (p.Phe399Cys) c.1208T>G (p.Phe403Cys) c.991T>G (n.991T>G) n.873T>G c.1295T>G (p.Phe432Cys) c.1307T>G (p.Phe436Cys) | |
| 1 | g.114677926A>G | CA341748975 | AMPD1 | c.1196T>C (p.Phe399Ser) c.1208T>C (p.Phe403Ser) c.991T>C (n.991T>C) n.873T>C c.1295T>C (p.Phe432Ser) c.1307T>C (p.Phe436Ser) | |
| 1 | g.114677926A>T | CA341748976 | AMPD1 | c.1196T>A (p.Phe399Tyr) c.1208T>A (p.Phe403Tyr) c.991T>A (n.991T>A) n.873T>A c.1295T>A (p.Phe432Tyr) c.1307T>A (p.Phe436Tyr) | |
| 1 | g.114677927A= | CA1190276598 | AMPD1 | c.1195T= (p.Phe399=) c.1207T= (p.Phe403=) c.990T= (n.990T=) n.872T= c.1294T= (p.Phe432=) c.1306T= (p.Phe436=) | |
| 1 | g.114677927A>C | CA1020193 | AMPD1 | c.1195T>G (p.Phe399Val) c.1207T>G (p.Phe403Val) c.990T>G (n.990T>G) n.872T>G c.1294T>G (p.Phe432Val) c.1306T>G (p.Phe436Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.114677927A>G | CA341748977 | AMPD1 | c.1195T>C (p.Phe399Leu) c.1207T>C (p.Phe403Leu) c.990T>C (n.990T>C) n.872T>C c.1294T>C (p.Phe432Leu) c.1306T>C (p.Phe436Leu) | |
| 1 | g.114677927A>T | CA341748978 | AMPD1 | c.1195T>A (p.Phe399Ile) c.1207T>A (p.Phe403Ile) c.990T>A (n.990T>A) n.872T>A c.1294T>A (p.Phe432Ile) c.1306T>A (p.Phe436Ile) | |
| 1 | g.114677928A= | CA1190276599 | AMPD1 | c.1194T= (p.Tyr398=) c.1206T= (p.Tyr402=) c.989T= (n.989T=) n.871T= c.1293T= (p.Tyr431=) c.1305T= (p.Tyr435=) | |
| 1 | g.114677928A>C | CA341748979 | AMPD1 | c.1194T>G (p.Tyr398Ter) c.1206T>G (p.Tyr402Ter) c.989T>G (n.989T>G) n.871T>G c.1293T>G (p.Tyr431Ter) c.1305T>G (p.Tyr435Ter) | |
| 1 | g.114677928A>G | CA1020194 | AMPD1 | c.1194T>C (p.Tyr398=) c.1206T>C (p.Tyr402=) c.989T>C (n.989T>C) n.871T>C c.1293T>C (p.Tyr431=) c.1305T>C (p.Tyr435=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.114677928A>T | CA341748980 | AMPD1 | c.1194T>A (p.Tyr398Ter) c.1206T>A (p.Tyr402Ter) c.989T>A (n.989T>A) n.871T>A c.1293T>A (p.Tyr431Ter) c.1305T>A (p.Tyr435Ter) | |
| 1 | g.114677929T>A | CA341748981 | AMPD1 | c.1193A>T (p.Tyr398Phe) c.1205A>T (p.Tyr402Phe) c.988A>T (n.988A>T) n.870A>T c.1292A>T (p.Tyr431Phe) c.1304A>T (p.Tyr435Phe) | |
| 1 | g.114677929T>C | CA341748982 | AMPD1 | c.1193A>G (p.Tyr398Cys) c.1205A>G (p.Tyr402Cys) c.988A>G (n.988A>G) n.870A>G c.1292A>G (p.Tyr431Cys) c.1304A>G (p.Tyr435Cys) | |
| 1 | g.114677929T>G | CA341748984 | AMPD1 | c.1193A>C (p.Tyr398Ser) c.1205A>C (p.Tyr402Ser) c.988A>C (n.988A>C) n.870A>C c.1292A>C (p.Tyr431Ser) c.1304A>C (p.Tyr435Ser) | |
| 1 | g.114677930A>C | CA341748987 | AMPD1 | c.1192T>G (p.Tyr398Asp) c.1204T>G (p.Tyr402Asp) c.987T>G (n.987T>G) n.869T>G c.1291T>G (p.Tyr431Asp) c.1303T>G (p.Tyr435Asp) | |
| 1 | g.114677930A>G | CA341748986 | AMPD1 | c.1192T>C (p.Tyr398His) c.1204T>C (p.Tyr402His) c.987T>C (n.987T>C) n.869T>C c.1291T>C (p.Tyr431His) c.1303T>C (p.Tyr435His) | |
| 1 | g.114677930A>T | CA341748985 | AMPD1 | c.1192T>A (p.Tyr398Asn) c.1204T>A (p.Tyr402Asn) c.987T>A (n.987T>A) n.869T>A c.1291T>A (p.Tyr431Asn) c.1303T>A (p.Tyr435Asn) | |
| 1 | g.114677931T>A | CA341748988 | AMPD1 | c.1191A>T (p.Glu397Asp) c.1203A>T (p.Glu401Asp) c.986A>T (n.986A>T) n.868A>T c.1290A>T (p.Glu430Asp) c.1302A>T (p.Glu434Asp) | |
| 1 | g.114677931T>C | CA419883086 | AMPD1 | c.1191A>G (p.Glu397=) c.1203A>G (p.Glu401=) c.986A>G (n.986A>G) n.868A>G c.1290A>G (p.Glu430=) c.1302A>G (p.Glu434=) | gnomAD v4 |
| 1 | g.114677931T>G | CA341748989 | AMPD1 | c.1191A>C (p.Glu397Asp) c.1203A>C (p.Glu401Asp) c.986A>C (n.986A>C) n.868A>C c.1290A>C (p.Glu430Asp) c.1302A>C (p.Glu434Asp) | |
| 1 | g.114677932T>A | CA341748990 | AMPD1 | c.1190A>T (p.Glu397Val) c.1202A>T (p.Glu401Val) c.985A>T (n.985A>T) n.867A>T c.1289A>T (p.Glu430Val) c.1301A>T (p.Glu434Val) | |
| 1 | g.114677932T>C | CA341748991 | AMPD1 | c.1190A>G (p.Glu397Gly) c.1202A>G (p.Glu401Gly) c.985A>G (n.985A>G) n.867A>G c.1289A>G (p.Glu430Gly) c.1301A>G (p.Glu434Gly) | dbSNP |
| 1 | g.114677932T>G | CA341748992 | AMPD1 | c.1190A>C (p.Glu397Ala) c.1202A>C (p.Glu401Ala) c.985A>C (n.985A>C) n.867A>C c.1289A>C (p.Glu430Ala) c.1301A>C (p.Glu434Ala) | gnomAD v4 |
| 1 | g.114677932T= | CA1190276600 | AMPD1 | c.1190A= (p.Glu397=) c.1202A= (p.Glu401=) c.985A= (n.985A=) n.867A= c.1289A= (p.Glu430=) c.1301A= (p.Glu434=) | |
| 1 | g.114677933C>A | CA341748993 | AMPD1 | c.1189G>T (p.Glu397Ter) c.1201G>T (p.Glu401Ter) c.984G>T (n.984G>T) n.866G>T c.1288G>T (p.Glu430Ter) c.1300G>T (p.Glu434Ter) | COSMIC COSMIC |
| 1 | g.114677933C= | CA1190276601 | AMPD1 | c.1189G= (p.Glu397=) c.1201G= (p.Glu401=) c.984G= (n.984G=) n.866G= c.1288G= (p.Glu430=) c.1300G= (p.Glu434=) | |
| 1 | g.114677933C>G | CA341748994 | AMPD1 | c.1189G>C (p.Glu397Gln) c.1201G>C (p.Glu401Gln) c.984G>C (n.984G>C) n.866G>C c.1288G>C (p.Glu430Gln) c.1300G>C (p.Glu434Gln) | |
| 1 | g.114677933C>T | CA341748995 | AMPD1 | c.1189G>A (p.Glu397Lys) c.1201G>A (p.Glu401Lys) c.984G>A (n.984G>A) n.866G>A c.1288G>A (p.Glu430Lys) c.1300G>A (p.Glu434Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.114677934C>A | CA419883087 | AMPD1 | c.1188G>T (p.Gly396=) c.1200G>T (p.Gly400=) c.983G>T (n.983G>T) n.865G>T c.1287G>T (p.Gly429=) c.1299G>T (p.Gly433=) | |
| 1 | g.114677934C= | CA1190276602 | AMPD1 | c.1188G= (p.Gly396=) c.1200G= (p.Gly400=) c.983G= (n.983G=) n.865G= c.1287G= (p.Gly429=) c.1299G= (p.Gly433=) | |
| 1 | g.114677934C>G | CA419883088 | AMPD1 | c.1188G>C (p.Gly396=) c.1200G>C (p.Gly400=) c.983G>C (n.983G>C) n.865G>C c.1287G>C (p.Gly429=) c.1299G>C (p.Gly433=) | gnomAD v4 |
| 1 | g.114677934C>T | CA29055280 | AMPD1 | c.1188G>A (p.Gly396=) c.1200G>A (p.Gly400=) c.983G>A (n.983G>A) n.865G>A c.1287G>A (p.Gly429=) c.1299G>A (p.Gly433=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.114677935C>A | CA341748996 | AMPD1 | c.1187G>T (p.Gly396Val) c.1199G>T (p.Gly400Val) c.982G>T (n.982G>T) n.864G>T c.1286G>T (p.Gly429Val) c.1298G>T (p.Gly433Val) | |
| 1 | g.114677935C>G | CA341748997 | AMPD1 | c.1187G>C (p.Gly396Ala) c.1199G>C (p.Gly400Ala) c.982G>C (n.982G>C) n.864G>C c.1286G>C (p.Gly429Ala) c.1298G>C (p.Gly433Ala) | |
| 1 | g.114677935C>T | CA341748998 | AMPD1 | c.1187G>A (p.Gly396Glu) c.1199G>A (p.Gly400Glu) c.982G>A (n.982G>A) n.864G>A c.1286G>A (p.Gly429Glu) c.1298G>A (p.Gly433Glu) | gnomAD v4 COSMIC COSMIC |
| 1 | g.114677935_114677936insACTATTTTCCCA | CA2647248297 | AMPD1 | c.1186_1187insTGGGAAAATAGT (p.Gly396ValfsTer4) c.1198_1199insTGGGAAAATAGT (p.Gly400ValfsTer4) c.981_982insTGGGAAAATAGT (n.981_982insTGGGAAAATAGT) n.863_864insTGGGAAAATAGT c.1285_1286insTGGGAAAATAGT (p.Gly429ValfsTer4) c.1297_1298insTGGGAAAATAGT (p.Gly433ValfsTer4) | gnomAD v4 |
| 1 | g.114677936C>A | CA341748999 | AMPD1 | c.1186G>T (p.Gly396Trp) c.1198G>T (p.Gly400Trp) c.981G>T (n.981G>T) n.863G>T c.1285G>T (p.Gly429Trp) c.1297G>T (p.Gly433Trp) | |
| 1 | g.114677936C>G | CA341749000 | AMPD1 | c.1186G>C (p.Gly396Arg) c.1198G>C (p.Gly400Arg) c.981G>C (n.981G>C) n.863G>C c.1285G>C (p.Gly429Arg) c.1297G>C (p.Gly433Arg) | |
| 1 | g.114677936C>T | CA341749001 | AMPD1 | c.1186G>A (p.Gly396Arg) c.1198G>A (p.Gly400Arg) c.981G>A (n.981G>A) n.863G>A c.1285G>A (p.Gly429Arg) c.1297G>A (p.Gly433Arg) | COSMIC COSMIC |
| 1 | g.114677937A= | CA1190276603 | AMPD1 | c.1185T= (p.Asn395=) c.1197T= (p.Asn399=) c.980T= (n.980T=) n.862T= c.1284T= (p.Asn428=) c.1296T= (p.Asn432=) | |
| 1 | g.114677937A>C | CA341749003 | AMPD1 | c.1185T>G (p.Asn395Lys) c.1197T>G (p.Asn399Lys) c.980T>G (n.980T>G) n.862T>G c.1284T>G (p.Asn428Lys) c.1296T>G (p.Asn432Lys) | |
| 1 | g.114677937A>G | CA419883089 | AMPD1 | c.1185T>C (p.Asn395=) c.1197T>C (p.Asn399=) c.980T>C (n.980T>C) n.862T>C c.1284T>C (p.Asn428=) c.1296T>C (p.Asn432=) | dbSNP gnomAD v4 |