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.38499134C>A | CA507243122 | RYR1 | c.6918C>A (p.Gly2306=) c.6915C>A (p.Gly2305=) c.370C>A n.7001C>A | |
| 19 | g.38499134C>G | CA507243124 | RYR1 | c.6918C>G (p.Gly2306=) c.6915C>G (p.Gly2305=) c.370C>G n.7001C>G | |
| 19 | g.38499134C>T | CA507243126 | RYR1 | c.6918C>T (p.Gly2306=) c.6915C>T (p.Gly2305=) c.370C>T n.7001C>T | |
| 19 | g.38499135C>A | CA405667153 | RYR1 | c.6919C>A (p.Leu2307Ile) c.6916C>A (p.Leu2306Ile) c.371C>A n.7002C>A | |
| 19 | g.38499135C>G | CA405667154 | RYR1 | c.6919C>G (p.Leu2307Val) c.6916C>G (p.Leu2306Val) c.371C>G n.7002C>G | |
| 19 | g.38499135C>T | CA405667156 | RYR1 | c.6919C>T (p.Leu2307Phe) c.6916C>T (p.Leu2306Phe) c.371C>T n.7002C>T | gnomAD v4 |
| 19 | g.38499136T>A | CA405667157 | RYR1 | c.6920T>A (p.Leu2307His) c.6917T>A (p.Leu2306His) c.372T>A n.7003T>A | |
| 19 | g.38499136T>C | CA405667159 | RYR1 | c.6920T>C (p.Leu2307Pro) c.6917T>C (p.Leu2306Pro) c.372T>C n.7003T>C | |
| 19 | g.38499136T>G | CA405667161 | RYR1 | c.6920T>G (p.Leu2307Arg) c.6917T>G (p.Leu2306Arg) c.372T>G n.7003T>G | |
| 19 | g.38499137C>A | CA507243133 | RYR1 | c.6921C>A (p.Leu2307=) c.6918C>A (p.Leu2306=) c.373C>A n.7004C>A | |
| 19 | g.38499137C= | CA2335052599 | RYR1 | c.6921C= (p.Leu2307=) c.6918C= (p.Leu2306=) c.373C= n.7004C= | |
| 19 | g.38499137C>G | CA068928 | RYR1 | c.6921C>G (p.Leu2307=) c.6918C>G (p.Leu2306=) c.373C>G n.7004C>G | ClinVar dbSNP ExAC gnomAD v2 |
| 19 | g.38499137C>T | CA507243134 | RYR1 | c.6921C>T (p.Leu2307=) c.6918C>T (p.Leu2306=) c.373C>T n.7004C>T | |
| 19 | g.38499138C>A | CA405667163 | RYR1 | c.6922C>A (p.Gln2308Lys) c.6919C>A (p.Gln2307Lys) c.374C>A n.7005C>A | |
| 19 | g.38499138C>G | CA405667164 | RYR1 | c.6922C>G (p.Gln2308Glu) c.6919C>G (p.Gln2307Glu) c.374C>G n.7005C>G | |
| 19 | g.38499138C>T | CA405667166 | RYR1 | c.6922C>T (p.Gln2308Ter) c.6919C>T (p.Gln2307Ter) c.374C>T n.7005C>T | |
| 19 | g.38499139A>C | CA405667168 | RYR1 | c.6923A>C (p.Gln2308Pro) c.6920A>C (p.Gln2307Pro) c.375A>C n.7006A>C | |
| 19 | g.38499139A>G | CA405667169 | RYR1 | c.6923A>G (p.Gln2308Arg) c.6920A>G (p.Gln2307Arg) c.375A>G n.7006A>G | |
| 19 | g.38499139A>T | CA405667171 | RYR1 | c.6923A>T (p.Gln2308Leu) c.6920A>T (p.Gln2307Leu) c.375A>T n.7006A>T | |
| 19 | g.38499140G>A | CA507243141 | RYR1 | c.6924G>A (p.Gln2308=) c.6921G>A (p.Gln2307=) c.376G>A n.7007G>A | |
| 19 | g.38499140G>C | CA405667174 | RYR1 | c.6924G>C (p.Gln2308His) c.6921G>C (p.Gln2307His) c.376G>C n.7007G>C | |
| 19 | g.38499140G>T | CA405667173 | RYR1 | c.6924G>T (p.Gln2308His) c.6921G>T (p.Gln2307His) c.376G>T n.7007G>T | |
| 19 | g.38499141A>C | CA405667177 | RYR1 | c.6925A>C (p.Ser2309Arg) c.6922A>C (p.Ser2308Arg) c.377A>C n.7008A>C | |
| 19 | g.38499141A>G | CA405667179 | RYR1 | c.6925A>G (p.Ser2309Gly) c.6922A>G (p.Ser2308Gly) c.377A>G n.7008A>G | |
| 19 | g.38499141A>T | CA405667180 | RYR1 | c.6925A>T (p.Ser2309Cys) c.6922A>T (p.Ser2308Cys) c.377A>T n.7008A>T | |
| 19 | g.38499142G>A | CA405667182 | RYR1 | c.6926G>A (p.Ser2309Asn) c.6923G>A (p.Ser2308Asn) c.378G>A n.7009G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.38499142G>C | CA405667183 | RYR1 | c.6926G>C (p.Ser2309Thr) c.6923G>C (p.Ser2308Thr) c.378G>C n.7009G>C | |
| 19 | g.38499142G>T | CA405667184 | RYR1 | c.6926G>T (p.Ser2309Ile) c.6923G>T (p.Ser2308Ile) c.378G>T n.7009G>T | |
| 19 | g.38499143C>A | CA405667185 | RYR1 | c.6927C>A (p.Ser2309Arg) c.6924C>A (p.Ser2308Arg) c.379C>A n.7010C>A | |
| 19 | g.38499143C>G | CA405667187 | RYR1 | c.6927C>G (p.Ser2309Arg) c.6924C>G (p.Ser2308Arg) c.379C>G n.7010C>G | |
| 19 | g.38499143C>T | CA507243147 | RYR1 | c.6927C>T (p.Ser2309=) c.6924C>T (p.Ser2308=) c.379C>T n.7010C>T | |
| 19 | g.38499144T>A | CA405667188 | RYR1 | c.6928T>A (p.Cys2310Ser) c.6925T>A (p.Cys2309Ser) c.380T>A n.7011T>A | |
| 19 | g.38499144T>C | CA405667190 | RYR1 | c.6928T>C (p.Cys2310Arg) c.6925T>C (p.Cys2309Arg) c.380T>C n.7011T>C | dbSNP |
| 19 | g.38499144T>G | CA405667191 | RYR1 | c.6928T>G (p.Cys2310Gly) c.6925T>G (p.Cys2309Gly) c.380T>G n.7011T>G | |
| 19 | g.38499144T= | CA2335052601 | RYR1 | c.6928T= (p.Cys2310=) c.6925T= (p.Cys2309=) c.380T= n.7011T= | |
| 19 | g.38499144_38499145delinsTG | CA2335052600 | RYR1 | c.6928_6929delinsTG (p.Cys2310=) c.6925_6926delinsTG (p.Cys2309=) c.380_381delinsTG n.7011_7012delinsTG | |
| 19 | g.38499145del | CA2335052602 | RYR1 | c.6929del (p.Cys2310SerfsTer?) c.6926del (p.Cys2309SerfsTer?) c.381del n.7012del | dbSNP |
| 19 | g.38499145G>A | CA405667193 | RYR1 | c.6929G>A (p.Cys2310Tyr) c.6926G>A (p.Cys2309Tyr) c.381G>A n.7012G>A | |
| 19 | g.38499145G>C | CA405667195 | RYR1 | c.6929G>C (p.Cys2310Ser) c.6926G>C (p.Cys2309Ser) c.381G>C n.7012G>C | |
| 19 | g.38499145G= | CA2335052603 | RYR1 | c.6929G= (p.Cys2310=) c.6926G= (p.Cys2309=) c.381G= n.7012G= | |
| 19 | g.38499145G>T | CA405667196 | RYR1 | c.6929G>T (p.Cys2310Phe) c.6926G>T (p.Cys2309Phe) c.381G>T n.7012G>T | COSMIC |
| 19 | g.38499146C>A | CA405667198 | RYR1 | c.6930C>A (p.Cys2310Ter) c.6927C>A (p.Cys2309Ter) c.382C>A n.7013C>A | |
| 19 | g.38499146C>G | CA405667200 | RYR1 | c.6930C>G (p.Cys2310Trp) c.6927C>G (p.Cys2309Trp) c.382C>G n.7013C>G | COSMIC |
| 19 | g.38499146C>T | CA507243150 | RYR1 | c.6930C>T (p.Cys2310=) c.6927C>T (p.Cys2309=) c.382C>T n.7013C>T | |
| 19 | g.38499149dup | CA916082460 | RYR1 | c.6933dup (p.Met2312HisfsTer?) c.6930dup (p.Met2311HisfsTer?) c.385dup n.7016dup | ClinVar dbSNP |
| 19 | g.38499149del | CA2695228664 | RYR1 | c.6933del (p.Met2312CysfsTer?) c.6930del (p.Met2311CysfsTer?) c.385del n.7016del | |
| 19 | g.38499147C>A | CA405667202 | RYR1 | c.6931C>A (p.Pro2311Thr) c.6928C>A (p.Pro2310Thr) c.383C>A n.7014C>A | |
| 19 | g.38499147C>G | CA405667203 | RYR1 | c.6931C>G (p.Pro2311Ala) c.6928C>G (p.Pro2310Ala) c.383C>G n.7014C>G | |
| 19 | g.38499147C>T | CA405667205 | RYR1 | c.6931C>T (p.Pro2311Ser) c.6928C>T (p.Pro2310Ser) c.383C>T n.7014C>T | |
| 19 | g.38499148C>A | CA405667206 | RYR1 | c.6932C>A (p.Pro2311His) c.6929C>A (p.Pro2310His) c.384C>A n.7015C>A |