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 |
|---|---|---|---|---|---|
| 9 | g.127663224C>A | CA374932914 | STXBP1 | c.407C>A (p.Ala136Asp) c.449C>A (p.Ala150Asp) c.*91C>A (n.*91C>A) c.*1313C>A (n.*1313C>A) c.391C>A c.93C>A n.285C>A c.440C>A (p.Ala147Asp) | |
| 9 | g.127663224C>G | CA374932915 | STXBP1 | c.407C>G (p.Ala136Gly) c.449C>G (p.Ala150Gly) c.*91C>G (n.*91C>G) c.*1313C>G (n.*1313C>G) c.391C>G c.93C>G n.285C>G c.440C>G (p.Ala147Gly) | |
| 9 | g.127663224C>T | CA374932916 | STXBP1 | c.407C>T (p.Ala136Val) c.449C>T (p.Ala150Val) c.*91C>T (n.*91C>T) c.*1313C>T (n.*1313C>T) c.391C>T c.93C>T n.285C>T c.440C>T (p.Ala147Val) | |
| 9 | g.127663226_127663229del | CA2580616306 | STXBP1 | c.409_412del (p.Asp137LeufsTer13) c.451_454del (p.Asp151LeufsTer13) c.*93_*96del (n.*93_*96del) c.*1315_*1318del (n.*1315_*1318del) c.393_396del c.95_98del c.409_412del (p.Asp137LeufsTer?) n.287_290del c.442_445del (p.Asp148LeufsTer13) | ClinVar |
| 9 | g.127663225T>A | CA467222615 | STXBP1 | c.408T>A (p.Ala136=) c.450T>A (p.Ala150=) c.*92T>A (n.*92T>A) c.*1314T>A (n.*1314T>A) c.392T>A c.94T>A n.286T>A c.441T>A (p.Ala147=) | |
| 9 | g.127663225T>C | CA467222618 | STXBP1 | c.408T>C (p.Ala136=) c.450T>C (p.Ala150=) c.*92T>C (n.*92T>C) c.*1314T>C (n.*1314T>C) c.392T>C c.94T>C n.286T>C c.441T>C (p.Ala147=) | |
| 9 | g.127663225T>G | CA467222620 | STXBP1 | c.408T>G (p.Ala136=) c.450T>G (p.Ala150=) c.*92T>G (n.*92T>G) c.*1314T>G (n.*1314T>G) c.392T>G c.94T>G n.286T>G c.441T>G (p.Ala147=) | |
| 9 | g.127663226G>A | CA374932917 | STXBP1 | c.409G>A (p.Asp137Asn) c.451G>A (p.Asp151Asn) c.*93G>A (n.*93G>A) c.*1315G>A (n.*1315G>A) c.393G>A c.95G>A n.287G>A c.442G>A (p.Asp148Asn) | ClinVar dbSNP |
| 9 | g.127663226G>C | CA374932918 | STXBP1 | c.409G>C (p.Asp137His) c.451G>C (p.Asp151His) c.*93G>C (n.*93G>C) c.*1315G>C (n.*1315G>C) c.393G>C c.95G>C n.287G>C c.442G>C (p.Asp148His) | |
| 9 | g.127663226G>T | CA374932919 | STXBP1 | c.409G>T (p.Asp137Tyr) c.451G>T (p.Asp151Tyr) c.*93G>T (n.*93G>T) c.*1315G>T (n.*1315G>T) c.393G>T c.95G>T n.287G>T c.442G>T (p.Asp148Tyr) | |
| 9 | g.127663227A>C | CA374932920 | STXBP1 | c.410A>C (p.Asp137Ala) c.452A>C (p.Asp151Ala) c.*94A>C (n.*94A>C) c.*1316A>C (n.*1316A>C) c.394A>C c.96A>C n.288A>C c.443A>C (p.Asp148Ala) | |
| 9 | g.127663227A>G | CA374932922 | STXBP1 | c.410A>G (p.Asp137Gly) c.452A>G (p.Asp151Gly) c.*94A>G (n.*94A>G) c.*1316A>G (n.*1316A>G) c.394A>G c.96A>G n.288A>G c.443A>G (p.Asp148Gly) | |
| 9 | g.127663227A>T | CA374932921 | STXBP1 | c.410A>T (p.Asp137Val) c.452A>T (p.Asp151Val) c.*94A>T (n.*94A>T) c.*1316A>T (n.*1316A>T) c.394A>T c.96A>T n.288A>T c.443A>T (p.Asp148Val) | |
| 9 | g.127663228C>A | CA374932923 | STXBP1 | c.411C>A (p.Asp137Glu) c.453C>A (p.Asp151Glu) c.*95C>A (n.*95C>A) c.*1317C>A (n.*1317C>A) c.395C>A c.97C>A n.289C>A c.444C>A (p.Asp148Glu) | |
| 9 | g.127663228C= | CA1879908319 | STXBP1 | c.411C= (p.Asp137=) c.453C= (p.Asp151=) c.*95C= (n.*95C=) c.*1317C= (n.*1317C=) c.395C= c.97C= n.289C= c.444C= (p.Asp148=) | |
| 9 | g.127663228C>G | CA374932924 | STXBP1 | c.411C>G (p.Asp137Glu) c.453C>G (p.Asp151Glu) c.*95C>G (n.*95C>G) c.*1317C>G (n.*1317C>G) c.395C>G c.97C>G n.289C>G c.444C>G (p.Asp148Glu) | |
| 9 | g.127663228C>T | CA467222640 | STXBP1 | c.411C>T (p.Asp137=) c.453C>T (p.Asp151=) c.*95C>T (n.*95C>T) c.*1317C>T (n.*1317C>T) c.395C>T c.97C>T n.289C>T c.444C>T (p.Asp148=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127663229T>A | CA374932925 | STXBP1 | c.412T>A (p.Ser138Thr) c.454T>A (p.Ser152Thr) c.*96T>A (n.*96T>A) c.*1318T>A (n.*1318T>A) c.396T>A c.98T>A n.290T>A c.445T>A (p.Ser149Thr) | |
| 9 | g.127663229T>C | CA374932926 | STXBP1 | c.412T>C (p.Ser138Pro) c.454T>C (p.Ser152Pro) c.*96T>C (n.*96T>C) c.*1318T>C (n.*1318T>C) c.396T>C c.98T>C n.290T>C c.445T>C (p.Ser149Pro) | |
| 9 | g.127663229T>G | CA374932927 | STXBP1 | c.412T>G (p.Ser138Ala) c.454T>G (p.Ser152Ala) c.*96T>G (n.*96T>G) c.*1318T>G (n.*1318T>G) c.396T>G c.98T>G n.290T>G c.445T>G (p.Ser149Ala) | |
| 9 | g.127663230C>A | CA374932928 | STXBP1 | c.413C>A (p.Ser138Tyr) c.455C>A (p.Ser152Tyr) c.*97C>A (n.*97C>A) c.*1319C>A (n.*1319C>A) c.397C>A c.99C>A n.291C>A c.446C>A (p.Ser149Tyr) | |
| 9 | g.127663230C>G | CA374932929 | STXBP1 | c.413C>G (p.Ser138Cys) c.455C>G (p.Ser152Cys) c.*97C>G (n.*97C>G) c.*1319C>G (n.*1319C>G) c.397C>G c.99C>G n.291C>G c.446C>G (p.Ser149Cys) | gnomAD v4 |
| 9 | g.127663230C>T | CA374932930 | STXBP1 | c.413C>T (p.Ser138Phe) c.455C>T (p.Ser152Phe) c.*97C>T (n.*97C>T) c.*1319C>T (n.*1319C>T) c.397C>T c.99C>T n.291C>T c.446C>T (p.Ser149Phe) | gnomAD v4 |
| 9 | g.127663231T>A | CA467222653 | STXBP1 | c.414T>A (p.Ser138=) c.456T>A (p.Ser152=) c.*98T>A (n.*98T>A) c.*1320T>A (n.*1320T>A) c.398T>A c.100T>A n.292T>A c.447T>A (p.Ser149=) | |
| 9 | g.127663231T>C | CA467222655 | STXBP1 | c.414T>C (p.Ser138=) c.456T>C (p.Ser152=) c.*98T>C (n.*98T>C) c.*1320T>C (n.*1320T>C) c.398T>C c.100T>C n.292T>C c.447T>C (p.Ser149=) | |
| 9 | g.127663231T>G | CA467222657 | STXBP1 | c.414T>G (p.Ser138=) c.456T>G (p.Ser152=) c.*98T>G (n.*98T>G) c.*1320T>G (n.*1320T>G) c.398T>G c.100T>G n.292T>G c.447T>G (p.Ser149=) | ClinVar dbSNP |
| 9 | g.127663232_127663233del | CA2739265034 | STXBP1 | c.415_416del (p.Phe139ProfsTer?) c.457_458del (p.Phe153ProfsTer?) c.*99_*100del (n.*99_*100del) c.*1321_*1322del (n.*1321_*1322del) c.399_400del c.101_102del n.293_294del c.448_449del (p.Phe150ProfsTer?) | ClinVar |
| 9 | g.127663232T>A | CA374932931 | STXBP1 | c.415T>A (p.Phe139Ile) c.457T>A (p.Phe153Ile) c.*99T>A (n.*99T>A) c.*1321T>A (n.*1321T>A) c.399T>A c.101T>A n.293T>A c.448T>A (p.Phe150Ile) | |
| 9 | g.127663232T>C | CA374932933 | STXBP1 | c.415T>C (p.Phe139Leu) c.457T>C (p.Phe153Leu) c.*99T>C (n.*99T>C) c.*1321T>C (n.*1321T>C) c.399T>C c.101T>C n.293T>C c.448T>C (p.Phe150Leu) | |
| 9 | g.127663232T>G | CA374932932 | STXBP1 | c.415T>G (p.Phe139Val) c.457T>G (p.Phe153Val) c.*99T>G (n.*99T>G) c.*1321T>G (n.*1321T>G) c.399T>G c.101T>G n.293T>G c.448T>G (p.Phe150Val) | |
| 9 | g.127663233T>A | CA374932934 | STXBP1 | c.416T>A (p.Phe139Tyr) c.458T>A (p.Phe153Tyr) c.*100T>A (n.*100T>A) c.*1322T>A (n.*1322T>A) c.400T>A c.102T>A n.294T>A c.449T>A (p.Phe150Tyr) | |
| 9 | g.127663233T>C | CA374932935 | STXBP1 | c.416T>C (p.Phe139Ser) c.458T>C (p.Phe153Ser) c.*100T>C (n.*100T>C) c.*1322T>C (n.*1322T>C) c.400T>C c.102T>C n.294T>C c.449T>C (p.Phe150Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127663233T>G | CA374932936 | STXBP1 | c.416T>G (p.Phe139Cys) c.458T>G (p.Phe153Cys) c.*100T>G (n.*100T>G) c.*1322T>G (n.*1322T>G) c.400T>G c.102T>G n.294T>G c.449T>G (p.Phe150Cys) | |
| 9 | g.127663233T= | CA1879908320 | STXBP1 | c.416T= (p.Phe139=) c.458T= (p.Phe153=) c.*100T= (n.*100T=) c.*1322T= (n.*1322T=) c.400T= c.102T= n.294T= c.449T= (p.Phe150=) | |
| 9 | g.127663234C>A | CA374932937 | STXBP1 | c.417C>A (p.Phe139Leu) c.459C>A (p.Phe153Leu) c.*101C>A (n.*101C>A) c.*1323C>A (n.*1323C>A) c.401C>A c.103C>A n.295C>A c.450C>A (p.Phe150Leu) | |
| 9 | g.127663234C= | CA1879908321 | STXBP1 | c.417C= (p.Phe139=) c.459C= (p.Phe153=) c.*101C= (n.*101C=) c.*1323C= (n.*1323C=) c.401C= c.103C= n.295C= c.450C= (p.Phe150=) | |
| 9 | g.127663234C>G | CA374932938 | STXBP1 | c.417C>G (p.Phe139Leu) c.459C>G (p.Phe153Leu) c.*101C>G (n.*101C>G) c.*1323C>G (n.*1323C>G) c.401C>G c.103C>G n.295C>G c.450C>G (p.Phe150Leu) | |
| 9 | g.127663234C>T | CA467222683 | STXBP1 | c.417C>T (p.Phe139=) c.459C>T (p.Phe153=) c.*101C>T (n.*101C>T) c.*1323C>T (n.*1323C>T) c.401C>T c.103C>T n.295C>T c.450C>T (p.Phe150=) | dbSNP gnomAD v4 |
| 9 | g.127663235C>A | CA374932939 | STXBP1 | c.418C>A (p.Gln140Lys) c.460C>A (p.Gln154Lys) c.*102C>A (n.*102C>A) c.*1324C>A (n.*1324C>A) c.402C>A c.104C>A n.296C>A c.451C>A (p.Gln151Lys) | |
| 9 | g.127663235C>G | CA374932941 | STXBP1 | c.418C>G (p.Gln140Glu) c.460C>G (p.Gln154Glu) c.*102C>G (n.*102C>G) c.*1324C>G (n.*1324C>G) c.402C>G c.104C>G n.296C>G c.451C>G (p.Gln151Glu) | |
| 9 | g.127663235C>T | CA374932940 | STXBP1 | c.418C>T (p.Gln140Ter) c.460C>T (p.Gln154Ter) c.*102C>T (n.*102C>T) c.*1324C>T (n.*1324C>T) c.402C>T c.104C>T n.296C>T c.451C>T (p.Gln151Ter) | |
| 9 | g.127663235_127663236delinsCA | CA1879908322 | STXBP1 | c.418_419delinsCA (p.Gln140=) c.460_461delinsCA (p.Gln154=) c.*102_*103delinsCA (n.*102_*103delinsCA) c.*1324_*1325delinsCA (n.*1324_*1325delinsCA) c.402_403delinsCA c.104_105delinsCA n.296_297delinsCA c.451_452delinsCA (p.Gln151=) | |
| 9 | g.127663236A>C | CA374932942 | STXBP1 | c.419A>C (p.Gln140Pro) c.461A>C (p.Gln154Pro) c.*103A>C (n.*103A>C) c.*1325A>C (n.*1325A>C) c.403A>C c.105A>C n.297A>C c.452A>C (p.Gln151Pro) | |
| 9 | g.127663236A>G | CA374932943 | STXBP1 | c.419A>G (p.Gln140Arg) c.461A>G (p.Gln154Arg) c.*103A>G (n.*103A>G) c.*1325A>G (n.*1325A>G) c.403A>G c.105A>G n.297A>G c.452A>G (p.Gln151Arg) | |
| 9 | g.127663236A>T | CA374932944 | STXBP1 | c.419A>T (p.Gln140Leu) c.461A>T (p.Gln154Leu) c.*103A>T (n.*103A>T) c.*1325A>T (n.*1325A>T) c.403A>T c.105A>T n.297A>T c.452A>T (p.Gln151Leu) | |
| 9 | g.127663238del | CA1139661181 | STXBP1 | c.421del (p.Ser141AlafsTer10) c.463del (p.Ser155AlafsTer10) c.*105del (n.*105del) c.*1327del (n.*1327del) c.405del c.107del c.421del (p.Ser141AlafsTer?) n.299del c.454del (p.Ser152AlafsTer10) | ClinVar dbSNP |
| 9 | g.127663237A= | CA1879908323 | STXBP1 | c.420A= (p.Gln140=) c.462A= (p.Gln154=) c.*104A= (n.*104A=) c.*1326A= (n.*1326A=) c.404A= c.106A= n.298A= c.453A= (p.Gln151=) | |
| 9 | g.127663237A>C | CA5248320 | STXBP1 | c.420A>C (p.Gln140His) c.462A>C (p.Gln154His) c.*104A>C (n.*104A>C) c.*1326A>C (n.*1326A>C) c.404A>C c.106A>C n.298A>C c.453A>C (p.Gln151His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127663237A>G | CA467222701 | STXBP1 | c.420A>G (p.Gln140=) c.462A>G (p.Gln154=) c.*104A>G (n.*104A>G) c.*1326A>G (n.*1326A>G) c.404A>G c.106A>G n.298A>G c.453A>G (p.Gln151=) | |
| 9 | g.127663237A>T | CA374932945 | STXBP1 | c.420A>T (p.Gln140His) c.462A>T (p.Gln154His) c.*104A>T (n.*104A>T) c.*1326A>T (n.*1326A>T) c.404A>T c.106A>T n.298A>T c.453A>T (p.Gln151His) |