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.88731763A= | CA1562203608 | MEF2C | c.398T= (p.Ile133=) c.776T= (p.Ile259=) n.713T= c.767T= (p.Ile256=) c.830T= (p.Ile277=) c.770T= (p.Ile257=) n.194T= c.632T= (p.Ile211=) c.65T= (p.Ile22=) c.185T= (p.Ile62=) c.350T= (p.Ile117=) | |
| 5 | g.88731763A>C | CA360423222 | MEF2C | c.398T>G (p.Ile133Ser) c.776T>G (p.Ile259Ser) n.713T>G c.767T>G (p.Ile256Ser) c.830T>G (p.Ile277Ser) c.770T>G (p.Ile257Ser) n.194T>G c.632T>G (p.Ile211Ser) c.65T>G (p.Ile22Ser) c.185T>G (p.Ile62Ser) c.350T>G (p.Ile117Ser) | |
| 5 | g.88731763A>G | CA360423223 | MEF2C | c.398T>C (p.Ile133Thr) c.776T>C (p.Ile259Thr) n.713T>C c.767T>C (p.Ile256Thr) c.830T>C (p.Ile277Thr) c.770T>C (p.Ile257Thr) n.194T>C c.632T>C (p.Ile211Thr) c.65T>C (p.Ile22Thr) c.185T>C (p.Ile62Thr) c.350T>C (p.Ile117Thr) | dbSNP |
| 5 | g.88731763A>T | CA360423224 | MEF2C | c.398T>A (p.Ile133Asn) c.776T>A (p.Ile259Asn) n.713T>A c.767T>A (p.Ile256Asn) c.830T>A (p.Ile277Asn) c.770T>A (p.Ile257Asn) n.194T>A c.632T>A (p.Ile211Asn) c.65T>A (p.Ile22Asn) c.185T>A (p.Ile62Asn) c.350T>A (p.Ile117Asn) | |
| 5 | g.88731764T>A | CA360423225 | MEF2C | c.397A>T (p.Ile133Phe) c.775A>T (p.Ile259Phe) n.712A>T c.766A>T (p.Ile256Phe) c.829A>T (p.Ile277Phe) c.769A>T (p.Ile257Phe) n.193A>T c.631A>T (p.Ile211Phe) c.64A>T (p.Ile22Phe) c.184A>T (p.Ile62Phe) c.349A>T (p.Ile117Phe) | dbSNP |
| 5 | g.88731764T>C | CA3337253 | MEF2C | c.397A>G (p.Ile133Val) c.775A>G (p.Ile259Val) n.712A>G c.766A>G (p.Ile256Val) c.829A>G (p.Ile277Val) c.769A>G (p.Ile257Val) n.193A>G c.631A>G (p.Ile211Val) c.64A>G (p.Ile22Val) c.184A>G (p.Ile62Val) c.349A>G (p.Ile117Val) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.88731764T>G | CA360423226 | MEF2C | c.397A>C (p.Ile133Leu) c.775A>C (p.Ile259Leu) n.712A>C c.766A>C (p.Ile256Leu) c.829A>C (p.Ile277Leu) c.769A>C (p.Ile257Leu) n.193A>C c.631A>C (p.Ile211Leu) c.64A>C (p.Ile22Leu) c.184A>C (p.Ile62Leu) c.349A>C (p.Ile117Leu) | |
| 5 | g.88731764T= | CA1562203609 | MEF2C | c.397A= (p.Ile133=) c.775A= (p.Ile259=) n.712A= c.766A= (p.Ile256=) c.829A= (p.Ile277=) c.769A= (p.Ile257=) n.193A= c.631A= (p.Ile211=) c.64A= (p.Ile22=) c.184A= (p.Ile62=) c.349A= (p.Ile117=) | |
| 5 | g.88731765A= | CA1562203610 | MEF2C | c.396T= (p.Leu132=) c.774T= (p.Leu258=) n.711T= c.765T= (p.Leu255=) c.828T= (p.Leu276=) c.768T= (p.Leu256=) n.192T= c.630T= (p.Leu210=) c.63T= (p.Leu21=) c.183T= (p.Leu61=) c.348T= (p.Leu116=) | |
| 5 | g.88731765A>C | CA445369810 | MEF2C | c.396T>G (p.Leu132=) c.774T>G (p.Leu258=) n.711T>G c.765T>G (p.Leu255=) c.828T>G (p.Leu276=) c.768T>G (p.Leu256=) n.192T>G c.630T>G (p.Leu210=) c.63T>G (p.Leu21=) c.183T>G (p.Leu61=) c.348T>G (p.Leu116=) | |
| 5 | g.88731765A>G | CA445369811 | MEF2C | c.396T>C (p.Leu132=) c.774T>C (p.Leu258=) n.711T>C c.765T>C (p.Leu255=) c.828T>C (p.Leu276=) c.768T>C (p.Leu256=) n.192T>C c.630T>C (p.Leu210=) c.63T>C (p.Leu21=) c.183T>C (p.Leu61=) c.348T>C (p.Leu116=) | dbSNP gnomAD v2 |
| 5 | g.88731765A>T | CA445369813 | MEF2C | c.396T>A (p.Leu132=) c.774T>A (p.Leu258=) n.711T>A c.765T>A (p.Leu255=) c.828T>A (p.Leu276=) c.768T>A (p.Leu256=) n.192T>A c.630T>A (p.Leu210=) c.63T>A (p.Leu21=) c.183T>A (p.Leu61=) c.348T>A (p.Leu116=) | |
| 5 | g.88731766A= | CA1562203611 | MEF2C | c.395T= (p.Leu132=) c.773T= (p.Leu258=) n.710T= c.764T= (p.Leu255=) c.827T= (p.Leu276=) c.767T= (p.Leu256=) n.191T= c.629T= (p.Leu210=) c.62T= (p.Leu21=) c.182T= (p.Leu61=) c.347T= (p.Leu116=) | |
| 5 | g.88731766A>C | CA360423228 | MEF2C | c.395T>G (p.Leu132Arg) c.773T>G (p.Leu258Arg) n.710T>G c.764T>G (p.Leu255Arg) c.827T>G (p.Leu276Arg) c.767T>G (p.Leu256Arg) n.191T>G c.629T>G (p.Leu210Arg) c.62T>G (p.Leu21Arg) c.182T>G (p.Leu61Arg) c.347T>G (p.Leu116Arg) | |
| 5 | g.88731766A>G | CA360423229 | MEF2C | c.395T>C (p.Leu132Pro) c.773T>C (p.Leu258Pro) n.710T>C c.764T>C (p.Leu255Pro) c.827T>C (p.Leu276Pro) c.767T>C (p.Leu256Pro) n.191T>C c.629T>C (p.Leu210Pro) c.62T>C (p.Leu21Pro) c.182T>C (p.Leu61Pro) c.347T>C (p.Leu116Pro) | |
| 5 | g.88731766A>T | CA360423227 | MEF2C | c.395T>A (p.Leu132His) c.773T>A (p.Leu258His) n.710T>A c.764T>A (p.Leu255His) c.827T>A (p.Leu276His) c.767T>A (p.Leu256His) n.191T>A c.629T>A (p.Leu210His) c.62T>A (p.Leu21His) c.182T>A (p.Leu61His) c.347T>A (p.Leu116His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.88731767G>A | CA360423232 | MEF2C | c.394C>T (p.Leu132Phe) c.772C>T (p.Leu258Phe) n.709C>T c.763C>T (p.Leu255Phe) c.826C>T (p.Leu276Phe) c.766C>T (p.Leu256Phe) n.190C>T c.628C>T (p.Leu210Phe) c.61C>T (p.Leu21Phe) c.181C>T (p.Leu61Phe) c.346C>T (p.Leu116Phe) | |
| 5 | g.88731767G>C | CA360423230 | MEF2C | c.394C>G (p.Leu132Val) c.772C>G (p.Leu258Val) n.709C>G c.763C>G (p.Leu255Val) c.826C>G (p.Leu276Val) c.766C>G (p.Leu256Val) n.190C>G c.628C>G (p.Leu210Val) c.61C>G (p.Leu21Val) c.181C>G (p.Leu61Val) c.346C>G (p.Leu116Val) | |
| 5 | g.88731767G>T | CA360423231 | MEF2C | c.394C>A (p.Leu132Ile) c.772C>A (p.Leu258Ile) n.709C>A c.763C>A (p.Leu255Ile) c.826C>A (p.Leu276Ile) c.766C>A (p.Leu256Ile) n.190C>A c.628C>A (p.Leu210Ile) c.61C>A (p.Leu21Ile) c.181C>A (p.Leu61Ile) c.346C>A (p.Leu116Ile) | |
| 5 | g.88731768A>C | CA445369818 | MEF2C | c.393T>G (p.Val131=) c.771T>G (p.Val257=) n.708T>G c.762T>G (p.Val254=) c.825T>G (p.Val275=) c.765T>G (p.Val255=) n.189T>G c.627T>G (p.Val209=) c.60T>G (p.Val20=) c.180T>G (p.Val60=) c.345T>G (p.Val115=) | |
| 5 | g.88731768A>G | CA445369820 | MEF2C | c.393T>C (p.Val131=) c.771T>C (p.Val257=) n.708T>C c.762T>C (p.Val254=) c.825T>C (p.Val275=) c.765T>C (p.Val255=) n.189T>C c.627T>C (p.Val209=) c.60T>C (p.Val20=) c.180T>C (p.Val60=) c.345T>C (p.Val115=) | |
| 5 | g.88731768A>T | CA445369822 | MEF2C | c.393T>A (p.Val131=) c.771T>A (p.Val257=) n.708T>A c.762T>A (p.Val254=) c.825T>A (p.Val275=) c.765T>A (p.Val255=) n.189T>A c.627T>A (p.Val209=) c.60T>A (p.Val20=) c.180T>A (p.Val60=) c.345T>A (p.Val115=) | |
| 5 | g.88731769A>C | CA360423233 | MEF2C | c.392T>G (p.Val131Gly) c.770T>G (p.Val257Gly) n.707T>G c.761T>G (p.Val254Gly) c.824T>G (p.Val275Gly) c.764T>G (p.Val255Gly) n.188T>G c.626T>G (p.Val209Gly) c.59T>G (p.Val20Gly) c.179T>G (p.Val60Gly) c.344T>G (p.Val115Gly) | gnomAD v4 |
| 5 | g.88731769A>G | CA360423234 | MEF2C | c.392T>C (p.Val131Ala) c.770T>C (p.Val257Ala) n.707T>C c.761T>C (p.Val254Ala) c.824T>C (p.Val275Ala) c.764T>C (p.Val255Ala) n.188T>C c.626T>C (p.Val209Ala) c.59T>C (p.Val20Ala) c.179T>C (p.Val60Ala) c.344T>C (p.Val115Ala) | |
| 5 | g.88731769A>T | CA360423235 | MEF2C | c.392T>A (p.Val131Asp) c.770T>A (p.Val257Asp) n.707T>A c.761T>A (p.Val254Asp) c.824T>A (p.Val275Asp) c.764T>A (p.Val255Asp) n.188T>A c.626T>A (p.Val209Asp) c.59T>A (p.Val20Asp) c.179T>A (p.Val60Asp) c.344T>A (p.Val115Asp) | |
| 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) |