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 |
|---|---|---|---|---|---|
| 19 | g.13359707C>A | CA404347225 | CACNA1A | c.877G>T (p.Gly293Trp) n.592G>T n.236G>T c.736G>T (p.Gly246Trp) n.730G>T c.1072G>T (p.Gly358Trp) n.97G>T | gnomAD v4 |
| 19 | g.13359707C= | CA2323854356 | CACNA1A | c.877G= (p.Gly293=) n.592G= n.236G= c.736G= (p.Gly246=) n.730G= c.1072G= (p.Gly358=) n.97G= | |
| 19 | g.13359707C>G | CA404347226 | CACNA1A | c.877G>C (p.Gly293Arg) n.592G>C n.236G>C c.736G>C (p.Gly246Arg) n.730G>C c.1072G>C (p.Gly358Arg) n.97G>C | |
| 19 | g.13359707C>T | CA254437 | CACNA1A | c.877G>A (p.Gly293Arg) n.592G>A n.236G>A c.736G>A (p.Gly246Arg) n.730G>A c.1072G>A (p.Gly358Arg) n.97G>A | ClinVar dbSNP |
| 19 | g.13359708T>A | CA404347227 | CACNA1A | c.876A>T (p.Glu292Asp) n.591A>T n.235A>T c.735A>T (p.Glu245Asp) n.729A>T c.1071A>T (p.Glu357Asp) n.96A>T | dbSNP |
| 19 | g.13359708T>C | CA152127 | CACNA1A | c.876A>G (p.Glu292=) n.591A>G n.235A>G c.735A>G (p.Glu245=) n.729A>G c.1071A>G (p.Glu357=) n.96A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13359708T>G | CA404347228 | CACNA1A | c.876A>C (p.Glu292Asp) n.591A>C n.235A>C c.735A>C (p.Glu245Asp) n.729A>C c.1071A>C (p.Glu357Asp) n.96A>C | dbSNP gnomAD v4 |
| 19 | g.13359708T= | CA2323854357 | CACNA1A | c.876A= (p.Glu292=) n.591A= n.235A= c.735A= (p.Glu245=) n.729A= c.1071A= (p.Glu357=) n.96A= | |
| 19 | g.13359709dup | CA2573156131 | CACNA1A | c.876dup (p.Gly293ArgfsTer30) n.591dup n.235dup c.735dup (p.Gly246ArgfsTer30) n.729dup c.1071dup (p.Gly358ArgfsTer30) n.96dup | ClinVar dbSNP |
| 19 | g.13359709T>A | CA404347231 | CACNA1A | c.875A>T (p.Glu292Val) n.590A>T n.234A>T c.734A>T (p.Glu245Val) n.728A>T c.1070A>T (p.Glu357Val) n.95A>T | |
| 19 | g.13359709T>C | CA404347230 | CACNA1A | c.875A>G (p.Glu292Gly) n.590A>G n.234A>G c.734A>G (p.Glu245Gly) n.728A>G c.1070A>G (p.Glu357Gly) n.95A>G | |
| 19 | g.13359709T>G | CA404347229 | CACNA1A | c.875A>C (p.Glu292Ala) n.590A>C n.234A>C c.734A>C (p.Glu245Ala) n.728A>C c.1070A>C (p.Glu357Ala) n.95A>C | |
| 19 | g.13359710C>A | CA404347232 | CACNA1A | c.874G>T (p.Glu292Ter) n.589G>T n.233G>T c.733G>T (p.Glu245Ter) n.727G>T c.1069G>T (p.Glu357Ter) n.94G>T | |
| 19 | g.13359710C= | CA2323854358 | CACNA1A | c.874G= (p.Glu292=) n.589G= n.233G= c.733G= (p.Glu245=) n.727G= c.1069G= (p.Glu357=) n.94G= | |
| 19 | g.13359710C>G | CA404347233 | CACNA1A | c.874G>C (p.Glu292Gln) n.589G>C n.233G>C c.733G>C (p.Glu245Gln) n.727G>C c.1069G>C (p.Glu357Gln) n.94G>C | |
| 19 | g.13359710C>T | CA404347234 | CACNA1A | c.874G>A (p.Glu292Lys) n.589G>A n.233G>A c.733G>A (p.Glu245Lys) n.727G>A c.1069G>A (p.Glu357Lys) n.94G>A | dbSNP gnomAD v2 COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13359711C>A | CA404347235 | CACNA1A | c.873G>T (p.Trp291Cys) n.588G>T n.232G>T c.732G>T (p.Trp244Cys) n.726G>T c.1068G>T (p.Trp356Cys) n.93G>T | gnomAD v4 |
| 19 | g.13359711C= | CA2323854359 | CACNA1A | c.873G= (p.Trp291=) n.588G= n.232G= c.732G= (p.Trp244=) n.726G= c.1068G= (p.Trp356=) n.93G= | |
| 19 | g.13359711C>G | CA404347236 | CACNA1A | c.873G>C (p.Trp291Cys) n.588G>C n.232G>C c.732G>C (p.Trp244Cys) n.726G>C c.1068G>C (p.Trp356Cys) n.93G>C | |
| 19 | g.13359711C>T | CA404347237 | CACNA1A | c.873G>A (p.Trp291Ter) n.588G>A n.232G>A c.732G>A (p.Trp244Ter) n.726G>A c.1068G>A (p.Trp356Ter) n.93G>A | dbSNP COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13359712C>A | CA404347240 | CACNA1A | c.872G>T (p.Trp291Leu) n.587G>T n.231G>T c.731G>T (p.Trp244Leu) n.725G>T c.1067G>T (p.Trp356Leu) n.92G>T | gnomAD v4 |
| 19 | g.13359712C= | CA2323854360 | CACNA1A | c.872G= (p.Trp291=) n.587G= n.231G= c.731G= (p.Trp244=) n.725G= c.1067G= (p.Trp356=) n.92G= | |
| 19 | g.13359712C>G | CA404347238 | CACNA1A | c.872G>C (p.Trp291Ser) n.587G>C n.231G>C c.731G>C (p.Trp244Ser) n.725G>C c.1067G>C (p.Trp356Ser) n.92G>C | |
| 19 | g.13359712C>T | CA404347239 | CACNA1A | c.872G>A (p.Trp291Ter) n.587G>A n.231G>A c.731G>A (p.Trp244Ter) n.725G>A c.1067G>A (p.Trp356Ter) n.92G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13359713A>C | CA404347241 | CACNA1A | c.871T>G (p.Trp291Gly) n.586T>G n.230T>G c.730T>G (p.Trp244Gly) n.724T>G c.1066T>G (p.Trp356Gly) n.91T>G | |
| 19 | g.13359713A>G | CA404347242 | CACNA1A | c.871T>C (p.Trp291Arg) n.586T>C n.230T>C c.730T>C (p.Trp244Arg) n.724T>C c.1066T>C (p.Trp356Arg) n.91T>C | COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13359713A>T | CA404347243 | CACNA1A | c.871T>A (p.Trp291Arg) n.586T>A n.230T>A c.730T>A (p.Trp244Arg) n.724T>A c.1066T>A (p.Trp356Arg) n.91T>A | |
| 19 | g.13359714G>A | CA505660949 | CACNA1A | c.870C>T (p.Tyr290=) n.585C>T n.229C>T c.729C>T (p.Tyr243=) n.723C>T c.1065C>T (p.Tyr355=) n.90C>T | gnomAD v4 |
| 19 | g.13359714G>C | CA404347244 | CACNA1A | c.870C>G (p.Tyr290Ter) n.585C>G n.229C>G c.729C>G (p.Tyr243Ter) n.723C>G c.1065C>G (p.Tyr355Ter) n.90C>G | |
| 19 | g.13359714G>T | CA404347245 | CACNA1A | c.870C>A (p.Tyr290Ter) n.585C>A n.229C>A c.729C>A (p.Tyr243Ter) n.723C>A c.1065C>A (p.Tyr355Ter) n.90C>A | gnomAD v4 |
| 19 | g.13359715T>A | CA404347246 | CACNA1A | c.869A>T (p.Tyr290Phe) n.584A>T n.228A>T c.728A>T (p.Tyr243Phe) n.722A>T c.1064A>T (p.Tyr355Phe) n.89A>T | |
| 19 | g.13359715T>C | CA404347247 | CACNA1A | c.869A>G (p.Tyr290Cys) n.584A>G n.228A>G c.728A>G (p.Tyr243Cys) n.722A>G c.1064A>G (p.Tyr355Cys) n.89A>G | |
| 19 | g.13359715T>G | CA404347248 | CACNA1A | c.869A>C (p.Tyr290Ser) n.584A>C n.228A>C c.728A>C (p.Tyr243Ser) n.722A>C c.1064A>C (p.Tyr355Ser) n.89A>C | |
| 19 | g.13359716A>C | CA404347249 | CACNA1A | c.868T>G (p.Tyr290Asp) n.583T>G n.227T>G c.727T>G (p.Tyr243Asp) n.721T>G c.1063T>G (p.Tyr355Asp) n.88T>G | |
| 19 | g.13359716A>G | CA404347250 | CACNA1A | c.868T>C (p.Tyr290His) n.583T>C n.227T>C c.727T>C (p.Tyr243His) n.721T>C c.1063T>C (p.Tyr355His) n.88T>C | |
| 19 | g.13359716A>T | CA404347251 | CACNA1A | c.868T>A (p.Tyr290Asn) n.583T>A n.227T>A c.727T>A (p.Tyr243Asn) n.721T>A c.1063T>A (p.Tyr355Asn) n.88T>A | |
| 19 | g.13359717G>A | CA9240948 | CACNA1A | c.867C>T (p.Pro289=) n.582C>T n.226C>T c.726C>T (p.Pro242=) n.720C>T c.1062C>T (p.Pro354=) n.87C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13359717G>C | CA9240949 | CACNA1A | c.867C>G (p.Pro289=) n.582C>G n.226C>G c.726C>G (p.Pro242=) n.720C>G c.1062C>G (p.Pro354=) n.87C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13359717G= | CA2323854361 | CACNA1A | c.867C= (p.Pro289=) n.582C= n.226C= c.726C= (p.Pro242=) n.720C= c.1062C= (p.Pro354=) n.87C= | |
| 19 | g.13359717G>T | CA505660950 | CACNA1A | c.867C>A (p.Pro289=) n.582C>A n.226C>A c.726C>A (p.Pro242=) n.720C>A c.1062C>A (p.Pro354=) n.87C>A | |
| 19 | g.13359718G>A | CA404347252 | CACNA1A | c.866C>T (p.Pro289Leu) n.581C>T n.225C>T c.725C>T (p.Pro242Leu) n.719C>T c.1061C>T (p.Pro354Leu) n.86C>T | gnomAD v4 |
| 19 | g.13359718G>C | CA404347254 | CACNA1A | c.866C>G (p.Pro289Arg) n.581C>G n.225C>G c.725C>G (p.Pro242Arg) n.719C>G c.1061C>G (p.Pro354Arg) n.86C>G | |
| 19 | g.13359718G>T | CA404347253 | CACNA1A | c.866C>A (p.Pro289His) n.581C>A n.225C>A c.725C>A (p.Pro242His) n.719C>A c.1061C>A (p.Pro354His) n.86C>A | dbSNP |
| 19 | g.13359719G>A | CA404347255 | CACNA1A | c.865C>T (p.Pro289Ser) n.580C>T n.224C>T c.724C>T (p.Pro242Ser) n.718C>T c.1060C>T (p.Pro354Ser) n.85C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.13359719G>C | CA404347256 | CACNA1A | c.865C>G (p.Pro289Ala) n.580C>G n.224C>G c.724C>G (p.Pro242Ala) n.718C>G c.1060C>G (p.Pro354Ala) n.85C>G | |
| 19 | g.13359719G= | CA2323854362 | CACNA1A | c.865C= (p.Pro289=) n.580C= n.224C= c.724C= (p.Pro242=) n.718C= c.1060C= (p.Pro354=) n.85C= | |
| 19 | g.13359719G>T | CA404347257 | CACNA1A | c.865C>A (p.Pro289Thr) n.580C>A n.224C>A c.724C>A (p.Pro242Thr) n.718C>A c.1060C>A (p.Pro354Thr) n.85C>A | gnomAD v4 |
| 19 | g.13359720C>A | CA404347258 | CACNA1A | c.864G>T (p.Gln288His) n.579G>T n.223G>T c.723G>T (p.Gln241His) n.717G>T c.1059G>T (p.Gln353His) n.84G>T | gnomAD v4 |
| 19 | g.13359720C= | CA2323854363 | CACNA1A | c.864G= (p.Gln288=) n.579G= n.223G= c.723G= (p.Gln241=) n.717G= c.1059G= (p.Gln353=) n.84G= | |
| 19 | g.13359720C>G | CA404347259 | CACNA1A | c.864G>C (p.Gln288His) n.579G>C n.223G>C c.723G>C (p.Gln241His) n.717G>C c.1059G>C (p.Gln353His) n.84G>C |