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 |
|---|---|---|---|---|---|
| 5 | g.88731770C>A | CA360423236 | MEF2C | c.391G>T (p.Val131Phe) c.769G>T (p.Val257Phe) n.706G>T c.760G>T (p.Val254Phe) c.823G>T (p.Val275Phe) c.763G>T (p.Val255Phe) n.187G>T c.625G>T (p.Val209Phe) c.58G>T (p.Val20Phe) c.178G>T (p.Val60Phe) c.343G>T (p.Val115Phe) | |
| 5 | g.88731770C= | CA1562203612 | MEF2C | c.391G= (p.Val131=) c.769G= (p.Val257=) n.706G= c.760G= (p.Val254=) c.823G= (p.Val275=) c.763G= (p.Val255=) n.187G= c.625G= (p.Val209=) c.58G= (p.Val20=) c.178G= (p.Val60=) c.343G= (p.Val115=) | |
| 5 | g.88731770C>G | CA360423237 | MEF2C | c.391G>C (p.Val131Leu) c.769G>C (p.Val257Leu) n.706G>C c.760G>C (p.Val254Leu) c.823G>C (p.Val275Leu) c.763G>C (p.Val255Leu) n.187G>C c.625G>C (p.Val209Leu) c.58G>C (p.Val20Leu) c.178G>C (p.Val60Leu) c.343G>C (p.Val115Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.88731770C>T | CA360423238 | MEF2C | c.391G>A (p.Val131Ile) c.769G>A (p.Val257Ile) n.706G>A c.760G>A (p.Val254Ile) c.823G>A (p.Val275Ile) c.763G>A (p.Val255Ile) n.187G>A c.625G>A (p.Val209Ile) c.58G>A (p.Val20Ile) c.178G>A (p.Val60Ile) c.343G>A (p.Val115Ile) | gnomAD v4 |
| 5 | g.88731771T>A | CA445369826 | MEF2C | c.390A>T (p.Arg130=) c.768A>T (p.Arg256=) n.705A>T c.759A>T (p.Arg253=) c.822A>T (p.Arg274=) c.762A>T (p.Arg254=) n.186A>T c.624A>T (p.Arg208=) c.57A>T (p.Arg19=) c.177A>T (p.Arg59=) c.342A>T (p.Arg114=) | |
| 5 | g.88731771T>C | CA445369829 | MEF2C | c.390A>G (p.Arg130=) c.768A>G (p.Arg256=) n.705A>G c.759A>G (p.Arg253=) c.822A>G (p.Arg274=) c.762A>G (p.Arg254=) n.186A>G c.624A>G (p.Arg208=) c.57A>G (p.Arg19=) c.177A>G (p.Arg59=) c.342A>G (p.Arg114=) | ClinVar dbSNP |
| 5 | g.88731771T>G | CA445369827 | MEF2C | c.390A>C (p.Arg130=) c.768A>C (p.Arg256=) n.705A>C c.759A>C (p.Arg253=) c.822A>C (p.Arg274=) c.762A>C (p.Arg254=) n.186A>C c.624A>C (p.Arg208=) c.57A>C (p.Arg19=) c.177A>C (p.Arg59=) c.342A>C (p.Arg114=) | |
| 5 | g.88731772C>A | CA360423239 | MEF2C | c.389G>T (p.Arg130Leu) c.767G>T (p.Arg256Leu) n.704G>T c.758G>T (p.Arg253Leu) c.821G>T (p.Arg274Leu) c.761G>T (p.Arg254Leu) n.185G>T c.623G>T (p.Arg208Leu) c.56G>T (p.Arg19Leu) c.176G>T (p.Arg59Leu) c.341G>T (p.Arg114Leu) | COSMIC COSMIC COSMIC COSMIC |
| 5 | g.88731772C= | CA1562203613 | MEF2C | c.389G= (p.Arg130=) c.767G= (p.Arg256=) n.704G= c.758G= (p.Arg253=) c.821G= (p.Arg274=) c.761G= (p.Arg254=) n.185G= c.623G= (p.Arg208=) c.56G= (p.Arg19=) c.176G= (p.Arg59=) c.341G= (p.Arg114=) | |
| 5 | g.88731772C>G | CA360423240 | MEF2C | c.389G>C (p.Arg130Pro) c.767G>C (p.Arg256Pro) n.704G>C c.758G>C (p.Arg253Pro) c.821G>C (p.Arg274Pro) c.761G>C (p.Arg254Pro) n.185G>C c.623G>C (p.Arg208Pro) c.56G>C (p.Arg19Pro) c.176G>C (p.Arg59Pro) c.341G>C (p.Arg114Pro) | |
| 5 | g.88731772C>T | CA360423241 | MEF2C | c.389G>A (p.Arg130Gln) c.767G>A (p.Arg256Gln) n.704G>A c.758G>A (p.Arg253Gln) c.821G>A (p.Arg274Gln) c.761G>A (p.Arg254Gln) n.185G>A c.623G>A (p.Arg208Gln) c.56G>A (p.Arg19Gln) c.176G>A (p.Arg59Gln) c.341G>A (p.Arg114Gln) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 5 | g.88731773G>A | CA315931 | MEF2C | c.388C>T (p.Arg130Ter) c.766C>T (p.Arg256Ter) n.703C>T c.757C>T (p.Arg253Ter) c.820C>T (p.Arg274Ter) c.760C>T (p.Arg254Ter) n.184C>T c.622C>T (p.Arg208Ter) c.55C>T (p.Arg19Ter) c.175C>T (p.Arg59Ter) c.340C>T (p.Arg114Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 5 | g.88731773G>C | CA360423242 | MEF2C | c.388C>G (p.Arg130Gly) c.766C>G (p.Arg256Gly) n.703C>G c.757C>G (p.Arg253Gly) c.820C>G (p.Arg274Gly) c.760C>G (p.Arg254Gly) n.184C>G c.622C>G (p.Arg208Gly) c.55C>G (p.Arg19Gly) c.175C>G (p.Arg59Gly) c.340C>G (p.Arg114Gly) | |
| 5 | g.88731773G= | CA1562203614 | MEF2C | c.388C= (p.Arg130=) c.766C= (p.Arg256=) n.703C= c.757C= (p.Arg253=) c.820C= (p.Arg274=) c.760C= (p.Arg254=) n.184C= c.622C= (p.Arg208=) c.55C= (p.Arg19=) c.175C= (p.Arg59=) c.340C= (p.Arg114=) | |
| 5 | g.88731773G>T | CA445369834 | MEF2C | c.388C>A (p.Arg130=) c.766C>A (p.Arg256=) n.703C>A c.757C>A (p.Arg253=) c.820C>A (p.Arg274=) c.760C>A (p.Arg254=) n.184C>A c.622C>A (p.Arg208=) c.55C>A (p.Arg19=) c.175C>A (p.Arg59=) c.340C>A (p.Arg114=) | |
| 5 | g.88731774G>A | CA445369836 | MEF2C | c.387C>T (p.Leu129=) c.765C>T (p.Leu255=) n.702C>T c.756C>T (p.Leu252=) c.819C>T (p.Leu273=) c.759C>T (p.Leu253=) n.183C>T c.621C>T (p.Leu207=) c.54C>T (p.Leu18=) c.174C>T (p.Leu58=) c.339C>T (p.Leu113=) | dbSNP |
| 5 | g.88731774G>C | CA445369838 | MEF2C | c.387C>G (p.Leu129=) c.765C>G (p.Leu255=) n.702C>G c.756C>G (p.Leu252=) c.819C>G (p.Leu273=) c.759C>G (p.Leu253=) n.183C>G c.621C>G (p.Leu207=) c.54C>G (p.Leu18=) c.174C>G (p.Leu58=) c.339C>G (p.Leu113=) | gnomAD v4 |
| 5 | g.88731774G= | CA1562203615 | MEF2C | c.387C= (p.Leu129=) c.765C= (p.Leu255=) n.702C= c.756C= (p.Leu252=) c.819C= (p.Leu273=) c.759C= (p.Leu253=) n.183C= c.621C= (p.Leu207=) c.54C= (p.Leu18=) c.174C= (p.Leu58=) c.339C= (p.Leu113=) | |
| 5 | g.88731774G>T | CA445369840 | MEF2C | c.387C>A (p.Leu129=) c.765C>A (p.Leu255=) n.702C>A c.756C>A (p.Leu252=) c.819C>A (p.Leu273=) c.759C>A (p.Leu253=) n.183C>A c.621C>A (p.Leu207=) c.54C>A (p.Leu18=) c.174C>A (p.Leu58=) c.339C>A (p.Leu113=) | |
| 5 | g.88731775A>C | CA360423245 | MEF2C | c.386T>G (p.Leu129Arg) c.764T>G (p.Leu255Arg) n.701T>G c.755T>G (p.Leu252Arg) c.818T>G (p.Leu273Arg) c.758T>G (p.Leu253Arg) n.182T>G c.620T>G (p.Leu207Arg) c.53T>G (p.Leu18Arg) c.173T>G (p.Leu58Arg) c.338T>G (p.Leu113Arg) | |
| 5 | g.88731775A>G | CA360423243 | MEF2C | c.386T>C (p.Leu129Pro) c.764T>C (p.Leu255Pro) n.701T>C c.755T>C (p.Leu252Pro) c.818T>C (p.Leu273Pro) c.758T>C (p.Leu253Pro) n.182T>C c.620T>C (p.Leu207Pro) c.53T>C (p.Leu18Pro) c.173T>C (p.Leu58Pro) c.338T>C (p.Leu113Pro) | gnomAD v4 |
| 5 | g.88731775A>T | CA360423244 | MEF2C | c.386T>A (p.Leu129His) c.764T>A (p.Leu255His) n.701T>A c.755T>A (p.Leu252His) c.818T>A (p.Leu273His) c.758T>A (p.Leu253His) n.182T>A c.620T>A (p.Leu207His) c.53T>A (p.Leu18His) c.173T>A (p.Leu58His) c.338T>A (p.Leu113His) | |
| 5 | g.88731776G>A | CA360423246 | MEF2C | c.385C>T (p.Leu129Phe) c.763C>T (p.Leu255Phe) n.700C>T c.754C>T (p.Leu252Phe) c.817C>T (p.Leu273Phe) c.757C>T (p.Leu253Phe) n.181C>T c.619C>T (p.Leu207Phe) c.52C>T (p.Leu18Phe) c.172C>T (p.Leu58Phe) c.337C>T (p.Leu113Phe) | |
| 5 | g.88731776G>C | CA360423247 | MEF2C | c.385C>G (p.Leu129Val) c.763C>G (p.Leu255Val) n.700C>G c.754C>G (p.Leu252Val) c.817C>G (p.Leu273Val) c.757C>G (p.Leu253Val) n.181C>G c.619C>G (p.Leu207Val) c.52C>G (p.Leu18Val) c.172C>G (p.Leu58Val) c.337C>G (p.Leu113Val) | |
| 5 | g.88731776G>T | CA360423248 | MEF2C | c.385C>A (p.Leu129Ile) c.763C>A (p.Leu255Ile) n.700C>A c.754C>A (p.Leu252Ile) c.817C>A (p.Leu273Ile) c.757C>A (p.Leu253Ile) n.181C>A c.619C>A (p.Leu207Ile) c.52C>A (p.Leu18Ile) c.172C>A (p.Leu58Ile) c.337C>A (p.Leu113Ile) | |
| 5 | g.88731777A>C | CA360423249 | MEF2C | c.384T>G (p.Asp128Glu) c.762T>G (p.Asp254Glu) n.699T>G c.753T>G (p.Asp251Glu) c.816T>G (p.Asp272Glu) c.756T>G (p.Asp252Glu) n.180T>G c.618T>G (p.Asp206Glu) c.51T>G (p.Asp17Glu) c.171T>G (p.Asp57Glu) c.336T>G (p.Asp112Glu) | |
| 5 | g.88731777A>G | CA445369845 | MEF2C | c.384T>C (p.Asp128=) c.762T>C (p.Asp254=) n.699T>C c.753T>C (p.Asp251=) c.816T>C (p.Asp272=) c.756T>C (p.Asp252=) n.180T>C c.618T>C (p.Asp206=) c.51T>C (p.Asp17=) c.171T>C (p.Asp57=) c.336T>C (p.Asp112=) | dbSNP |
| 5 | g.88731777A>T | CA360423250 | MEF2C | c.384T>A (p.Asp128Glu) c.762T>A (p.Asp254Glu) n.699T>A c.753T>A (p.Asp251Glu) c.816T>A (p.Asp272Glu) c.756T>A (p.Asp252Glu) n.180T>A c.618T>A (p.Asp206Glu) c.51T>A (p.Asp17Glu) c.171T>A (p.Asp57Glu) c.336T>A (p.Asp112Glu) | |
| 5 | g.88731778T>A | CA360423251 | MEF2C | c.383A>T (p.Asp128Val) c.761A>T (p.Asp254Val) n.698A>T c.752A>T (p.Asp251Val) c.815A>T (p.Asp272Val) c.755A>T (p.Asp252Val) n.179A>T c.617A>T (p.Asp206Val) c.50A>T (p.Asp17Val) c.170A>T (p.Asp57Val) c.335A>T (p.Asp112Val) | |
| 5 | g.88731778T>C | CA360423252 | MEF2C | c.383A>G (p.Asp128Gly) c.761A>G (p.Asp254Gly) n.698A>G c.752A>G (p.Asp251Gly) c.815A>G (p.Asp272Gly) c.755A>G (p.Asp252Gly) n.179A>G c.617A>G (p.Asp206Gly) c.50A>G (p.Asp17Gly) c.170A>G (p.Asp57Gly) c.335A>G (p.Asp112Gly) | |
| 5 | g.88731778T>G | CA360423253 | MEF2C | c.383A>C (p.Asp128Ala) c.761A>C (p.Asp254Ala) n.698A>C c.752A>C (p.Asp251Ala) c.815A>C (p.Asp272Ala) c.755A>C (p.Asp252Ala) n.179A>C c.617A>C (p.Asp206Ala) c.50A>C (p.Asp17Ala) c.170A>C (p.Asp57Ala) c.335A>C (p.Asp112Ala) | |
| 5 | g.88731779C>A | CA360423254 | MEF2C | c.382G>T (p.Asp128Tyr) c.760G>T (p.Asp254Tyr) n.697G>T c.751G>T (p.Asp251Tyr) c.814G>T (p.Asp272Tyr) c.754G>T (p.Asp252Tyr) n.178G>T c.616G>T (p.Asp206Tyr) c.49G>T (p.Asp17Tyr) c.169G>T (p.Asp57Tyr) c.334G>T (p.Asp112Tyr) | |
| 5 | g.88731779C>G | CA360423255 | MEF2C | c.382G>C (p.Asp128His) c.760G>C (p.Asp254His) n.697G>C c.751G>C (p.Asp251His) c.814G>C (p.Asp272His) c.754G>C (p.Asp252His) n.178G>C c.616G>C (p.Asp206His) c.49G>C (p.Asp17His) c.169G>C (p.Asp57His) c.334G>C (p.Asp112His) | |
| 5 | g.88731779C>T | CA360423256 | MEF2C | c.382G>A (p.Asp128Asn) c.760G>A (p.Asp254Asn) n.697G>A c.751G>A (p.Asp251Asn) c.814G>A (p.Asp272Asn) c.754G>A (p.Asp252Asn) n.178G>A c.616G>A (p.Asp206Asn) c.49G>A (p.Asp17Asn) c.169G>A (p.Asp57Asn) c.334G>A (p.Asp112Asn) | |
| 5 | g.88731780T>A | CA445369854 | MEF2C | c.381A>T (p.Pro127=) c.759A>T (p.Pro253=) n.696A>T c.750A>T (p.Pro250=) c.813A>T (p.Pro271=) c.753A>T (p.Pro251=) n.177A>T c.615A>T (p.Pro205=) c.48A>T (p.Pro16=) c.168A>T (p.Pro56=) c.333A>T (p.Pro111=) | |
| 5 | g.88731780T>C | CA247149 | MEF2C | c.381A>G (p.Pro127=) c.759A>G (p.Pro253=) n.696A>G c.750A>G (p.Pro250=) c.813A>G (p.Pro271=) c.753A>G (p.Pro251=) n.177A>G c.615A>G (p.Pro205=) c.48A>G (p.Pro16=) c.168A>G (p.Pro56=) c.333A>G (p.Pro111=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.88731780T>G | CA445369852 | MEF2C | c.381A>C (p.Pro127=) c.759A>C (p.Pro253=) n.696A>C c.750A>C (p.Pro250=) c.813A>C (p.Pro271=) c.753A>C (p.Pro251=) n.177A>C c.615A>C (p.Pro205=) c.48A>C (p.Pro16=) c.168A>C (p.Pro56=) c.333A>C (p.Pro111=) | |
| 5 | g.88731780T= | CA1562203616 | MEF2C | c.381A= (p.Pro127=) c.759A= (p.Pro253=) n.696A= c.750A= (p.Pro250=) c.813A= (p.Pro271=) c.753A= (p.Pro251=) n.177A= c.615A= (p.Pro205=) c.48A= (p.Pro16=) c.168A= (p.Pro56=) c.333A= (p.Pro111=) | |
| 5 | g.88731781G>A | CA360423259 | MEF2C | c.380C>T (p.Pro127Leu) c.758C>T (p.Pro253Leu) n.695C>T c.749C>T (p.Pro250Leu) c.812C>T (p.Pro271Leu) c.752C>T (p.Pro251Leu) n.176C>T c.614C>T (p.Pro205Leu) c.47C>T (p.Pro16Leu) c.167C>T (p.Pro56Leu) c.332C>T (p.Pro111Leu) | |
| 5 | g.88731781G>C | CA360423258 | MEF2C | c.380C>G (p.Pro127Arg) c.758C>G (p.Pro253Arg) n.695C>G c.749C>G (p.Pro250Arg) c.812C>G (p.Pro271Arg) c.752C>G (p.Pro251Arg) n.176C>G c.614C>G (p.Pro205Arg) c.47C>G (p.Pro16Arg) c.167C>G (p.Pro56Arg) c.332C>G (p.Pro111Arg) | |
| 5 | g.88731781G>T | CA360423257 | MEF2C | c.380C>A (p.Pro127Gln) c.758C>A (p.Pro253Gln) n.695C>A c.749C>A (p.Pro250Gln) c.812C>A (p.Pro271Gln) c.752C>A (p.Pro251Gln) n.176C>A c.614C>A (p.Pro205Gln) c.47C>A (p.Pro16Gln) c.167C>A (p.Pro56Gln) c.332C>A (p.Pro111Gln) | |
| 5 | g.88731782G>A | CA360423262 | MEF2C | c.379C>T (p.Pro127Ser) c.757C>T (p.Pro253Ser) n.694C>T c.748C>T (p.Pro250Ser) c.811C>T (p.Pro271Ser) c.751C>T (p.Pro251Ser) n.175C>T c.613C>T (p.Pro205Ser) c.46C>T (p.Pro16Ser) c.166C>T (p.Pro56Ser) c.331C>T (p.Pro111Ser) | |
| 5 | g.88731782G>C | CA360423260 | MEF2C | c.379C>G (p.Pro127Ala) c.757C>G (p.Pro253Ala) n.694C>G c.748C>G (p.Pro250Ala) c.811C>G (p.Pro271Ala) c.751C>G (p.Pro251Ala) n.175C>G c.613C>G (p.Pro205Ala) c.46C>G (p.Pro16Ala) c.166C>G (p.Pro56Ala) c.331C>G (p.Pro111Ala) | |
| 5 | g.88731782G>T | CA360423261 | MEF2C | c.379C>A (p.Pro127Thr) c.757C>A (p.Pro253Thr) n.694C>A c.748C>A (p.Pro250Thr) c.811C>A (p.Pro271Thr) c.751C>A (p.Pro251Thr) n.175C>A c.613C>A (p.Pro205Thr) c.46C>A (p.Pro16Thr) c.166C>A (p.Pro56Thr) c.331C>A (p.Pro111Thr) | |
| 5 | g.88731783T>A | CA360423263 | MEF2C | c.378A>T (p.Lys126Asn) c.756A>T (p.Lys252Asn) n.693A>T c.747A>T (p.Lys249Asn) c.810A>T (p.Lys270Asn) c.750A>T (p.Lys250Asn) n.174A>T c.612A>T (p.Lys204Asn) c.45A>T (p.Lys15Asn) c.165A>T (p.Lys55Asn) c.330A>T (p.Lys110Asn) | |
| 5 | g.88731783T>C | CA445369860 | MEF2C | c.378A>G (p.Lys126=) c.756A>G (p.Lys252=) n.693A>G c.747A>G (p.Lys249=) c.810A>G (p.Lys270=) c.750A>G (p.Lys250=) n.174A>G c.612A>G (p.Lys204=) c.45A>G (p.Lys15=) c.165A>G (p.Lys55=) c.330A>G (p.Lys110=) | |
| 5 | g.88731783T>G | CA360423264 | MEF2C | c.378A>C (p.Lys126Asn) c.756A>C (p.Lys252Asn) n.693A>C c.747A>C (p.Lys249Asn) c.810A>C (p.Lys270Asn) c.750A>C (p.Lys250Asn) n.174A>C c.612A>C (p.Lys204Asn) c.45A>C (p.Lys15Asn) c.165A>C (p.Lys55Asn) c.330A>C (p.Lys110Asn) | |
| 5 | g.88731784T>A | CA360423265 | MEF2C | c.377A>T (p.Lys126Ile) c.755A>T (p.Lys252Ile) n.692A>T c.746A>T (p.Lys249Ile) c.809A>T (p.Lys270Ile) c.749A>T (p.Lys250Ile) n.173A>T c.611A>T (p.Lys204Ile) c.44A>T (p.Lys15Ile) c.164A>T (p.Lys55Ile) c.329A>T (p.Lys110Ile) | |
| 5 | g.88731784T>C | CA360423266 | MEF2C | c.377A>G (p.Lys126Arg) c.755A>G (p.Lys252Arg) n.692A>G c.746A>G (p.Lys249Arg) c.809A>G (p.Lys270Arg) c.749A>G (p.Lys250Arg) n.173A>G c.611A>G (p.Lys204Arg) c.44A>G (p.Lys15Arg) c.164A>G (p.Lys55Arg) c.329A>G (p.Lys110Arg) | |
| 5 | g.88731784T>G | CA360423267 | MEF2C | c.377A>C (p.Lys126Thr) c.755A>C (p.Lys252Thr) n.692A>C c.746A>C (p.Lys249Thr) c.809A>C (p.Lys270Thr) c.749A>C (p.Lys250Thr) n.173A>C c.611A>C (p.Lys204Thr) c.44A>C (p.Lys15Thr) c.164A>C (p.Lys55Thr) c.329A>C (p.Lys110Thr) |