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.38584969T>A | CA507246316 | RYR1 | c.1609T>A c.3006T>A c.2978T>A n.66T>A c.14673T>A (p.Gly4891=) c.14658T>A (p.Gly4886=) c.14655T>A (p.Gly4885=) c.14640T>A (p.Gly4880=) c.14670T>A (p.Gly4890=) c.14586T>A (p.Gly4862=) | |
| 19 | g.38584969T>C | CA507246317 | RYR1 | c.1609T>C c.3006T>C c.2978T>C n.66T>C c.14673T>C (p.Gly4891=) c.14658T>C (p.Gly4886=) c.14655T>C (p.Gly4885=) c.14640T>C (p.Gly4880=) c.14670T>C (p.Gly4890=) c.14586T>C (p.Gly4862=) | |
| 19 | g.38584969T>G | CA507246318 | RYR1 | c.1609T>G c.3006T>G c.2978T>G n.66T>G c.14673T>G (p.Gly4891=) c.14658T>G (p.Gly4886=) c.14655T>G (p.Gly4885=) c.14640T>G (p.Gly4880=) c.14670T>G (p.Gly4890=) c.14586T>G (p.Gly4862=) | dbSNP |
| 19 | g.38584969T= | CA2335094937 | RYR1 | c.1609T= c.3006T= c.2978T= n.66T= c.14673T= (p.Gly4891=) c.14658T= (p.Gly4886=) c.14655T= (p.Gly4885=) c.14640T= (p.Gly4880=) c.14670T= (p.Gly4890=) c.14586T= (p.Gly4862=) | |
| 19 | g.38584970G>A | CA405690237 | RYR1 | c.1610G>A c.3007G>A c.2979G>A n.67G>A c.14674G>A (p.Val4892Ile) c.14659G>A (p.Val4887Ile) c.14656G>A (p.Val4886Ile) c.14641G>A (p.Val4881Ile) c.14671G>A (p.Val4891Ile) c.14587G>A (p.Val4863Ile) | |
| 19 | g.38584970G>C | CA405690239 | RYR1 | c.1610G>C c.3007G>C c.2979G>C n.67G>C c.14674G>C (p.Val4892Leu) c.14659G>C (p.Val4887Leu) c.14656G>C (p.Val4886Leu) c.14641G>C (p.Val4881Leu) c.14671G>C (p.Val4891Leu) c.14587G>C (p.Val4863Leu) | |
| 19 | g.38584970G>T | CA405690242 | RYR1 | c.1610G>T c.3007G>T c.2979G>T n.67G>T c.14674G>T (p.Val4892Phe) c.14659G>T (p.Val4887Phe) c.14656G>T (p.Val4886Phe) c.14641G>T (p.Val4881Phe) c.14671G>T (p.Val4891Phe) c.14587G>T (p.Val4863Phe) | |
| 19 | g.38584971T>A | CA405690245 | RYR1 | c.1611T>A c.3008T>A c.2980T>A n.68T>A c.14675T>A (p.Val4892Asp) c.14660T>A (p.Val4887Asp) c.14657T>A (p.Val4886Asp) c.14642T>A (p.Val4881Asp) c.14672T>A (p.Val4891Asp) c.14588T>A (p.Val4863Asp) | |
| 19 | g.38584971T>C | CA405690243 | RYR1 | c.1611T>C c.3008T>C c.2980T>C n.68T>C c.14675T>C (p.Val4892Ala) c.14660T>C (p.Val4887Ala) c.14657T>C (p.Val4886Ala) c.14642T>C (p.Val4881Ala) c.14672T>C (p.Val4891Ala) c.14588T>C (p.Val4863Ala) | |
| 19 | g.38584971T>G | CA405690244 | RYR1 | c.1611T>G c.3008T>G c.2980T>G n.68T>G c.14675T>G (p.Val4892Gly) c.14660T>G (p.Val4887Gly) c.14657T>G (p.Val4886Gly) c.14642T>G (p.Val4881Gly) c.14672T>G (p.Val4891Gly) c.14588T>G (p.Val4863Gly) | |
| 19 | g.38584972C>A | CA507246320 | RYR1 | c.1612C>A c.3009C>A c.2981C>A n.69C>A c.14676C>A (p.Val4892=) c.14661C>A (p.Val4887=) c.14658C>A (p.Val4886=) c.14643C>A (p.Val4881=) c.14673C>A (p.Val4891=) c.14589C>A (p.Val4863=) | |
| 19 | g.38584972C>G | CA507246321 | RYR1 | c.1612C>G c.3009C>G c.2981C>G n.69C>G c.14676C>G (p.Val4892=) c.14661C>G (p.Val4887=) c.14658C>G (p.Val4886=) c.14643C>G (p.Val4881=) c.14673C>G (p.Val4891=) c.14589C>G (p.Val4863=) | |
| 19 | g.38584972C>T | CA507246322 | RYR1 | c.1612C>T c.3009C>T c.2981C>T n.69C>T c.14676C>T (p.Val4892=) c.14661C>T (p.Val4887=) c.14658C>T (p.Val4886=) c.14643C>T (p.Val4881=) c.14673C>T (p.Val4891=) c.14589C>T (p.Val4863=) | |
| 19 | g.38584973C>A | CA507246323 | RYR1 | c.1613C>A c.3010C>A c.2982C>A n.70C>A c.14677C>A (p.Arg4893=) c.14662C>A (p.Arg4888=) c.14659C>A (p.Arg4887=) c.14644C>A (p.Arg4882=) c.14674C>A (p.Arg4892=) c.14590C>A (p.Arg4864=) | |
| 19 | g.38584973C= | CA2335094938 | RYR1 | c.1613C= c.3010C= c.2982C= n.70C= c.14677C= (p.Arg4893=) c.14662C= (p.Arg4888=) c.14659C= (p.Arg4887=) c.14644C= (p.Arg4882=) c.14674C= (p.Arg4892=) c.14590C= (p.Arg4864=) | |
| 19 | g.38584973C>G | CA308125459 | RYR1 | c.1613C>G c.3010C>G c.2982C>G n.70C>G c.14677C>G (p.Arg4893Gly) c.14662C>G (p.Arg4888Gly) c.14659C>G (p.Arg4887Gly) c.14644C>G (p.Arg4882Gly) c.14674C>G (p.Arg4892Gly) c.14590C>G (p.Arg4864Gly) | dbSNP |
| 19 | g.38584973C>T | CA024220 | RYR1 | c.1613C>T c.3010C>T c.2982C>T n.70C>T c.14677C>T (p.Arg4893Trp) c.14662C>T (p.Arg4888Trp) c.14659C>T (p.Arg4887Trp) c.14644C>T (p.Arg4882Trp) c.14674C>T (p.Arg4892Trp) c.14590C>T (p.Arg4864Trp) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38584974G>A | CA024221 | RYR1 | c.1614G>A c.3011G>A c.2983G>A n.71G>A c.14678G>A (p.Arg4893Gln) c.14663G>A (p.Arg4888Gln) c.14660G>A (p.Arg4887Gln) c.14645G>A (p.Arg4882Gln) c.14675G>A (p.Arg4892Gln) c.14591G>A (p.Arg4864Gln) | ClinVar dbSNP |
| 19 | g.38584974G>C | CA024223 | RYR1 | c.1614G>C c.3011G>C c.2983G>C n.71G>C c.14678G>C (p.Arg4893Pro) c.14663G>C (p.Arg4888Pro) c.14660G>C (p.Arg4887Pro) c.14645G>C (p.Arg4882Pro) c.14675G>C (p.Arg4892Pro) c.14591G>C (p.Arg4864Pro) | ClinVar dbSNP |
| 19 | g.38584974G= | CA2335094939 | RYR1 | c.1614G= c.3011G= c.2983G= n.71G= c.14678G= (p.Arg4893=) c.14663G= (p.Arg4888=) c.14660G= (p.Arg4887=) c.14645G= (p.Arg4882=) c.14675G= (p.Arg4892=) c.14591G= (p.Arg4864=) | |
| 19 | g.38584974G>T | CA405690254 | RYR1 | c.1614G>T c.3011G>T c.2983G>T n.71G>T c.14678G>T (p.Arg4893Leu) c.14663G>T (p.Arg4888Leu) c.14660G>T (p.Arg4887Leu) c.14645G>T (p.Arg4882Leu) c.14675G>T (p.Arg4892Leu) c.14591G>T (p.Arg4864Leu) | ClinVar gnomAD v4 |
| 19 | g.38584975G>A | CA507246325 | RYR1 | c.1615G>A c.3012G>A c.2984G>A n.72G>A c.14679G>A (p.Arg4893=) c.14664G>A (p.Arg4888=) c.14661G>A (p.Arg4887=) c.14646G>A (p.Arg4882=) c.14676G>A (p.Arg4892=) c.14592G>A (p.Arg4864=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38584975G>C | CA507246326 | RYR1 | c.1615G>C c.3012G>C c.2984G>C n.72G>C c.14679G>C (p.Arg4893=) c.14664G>C (p.Arg4888=) c.14661G>C (p.Arg4887=) c.14646G>C (p.Arg4882=) c.14676G>C (p.Arg4892=) c.14592G>C (p.Arg4864=) | |
| 19 | g.38584975G= | CA2335094940 | RYR1 | c.1615G= c.3012G= c.2984G= n.72G= c.14679G= (p.Arg4893=) c.14664G= (p.Arg4888=) c.14661G= (p.Arg4887=) c.14646G= (p.Arg4882=) c.14676G= (p.Arg4892=) c.14592G= (p.Arg4864=) | |
| 19 | g.38584975G>T | CA507246328 | RYR1 | c.1615G>T c.3012G>T c.2984G>T n.72G>T c.14679G>T (p.Arg4893=) c.14664G>T (p.Arg4888=) c.14661G>T (p.Arg4887=) c.14646G>T (p.Arg4882=) c.14676G>T (p.Arg4892=) c.14592G>T (p.Arg4864=) | |
| 19 | g.38584976G>A | CA024225 | RYR1 | c.1616G>A c.3013G>A c.2985G>A n.73G>A c.14680G>A (p.Ala4894Thr) c.14665G>A (p.Ala4889Thr) c.14662G>A (p.Ala4888Thr) c.14647G>A (p.Ala4883Thr) c.14677G>A (p.Ala4893Thr) c.14593G>A (p.Ala4865Thr) | ClinVar dbSNP |
| 19 | g.38584976G>C | CA024227 | RYR1 | c.1616G>C c.3013G>C c.2985G>C n.73G>C c.14680G>C (p.Ala4894Pro) c.14665G>C (p.Ala4889Pro) c.14662G>C (p.Ala4888Pro) c.14647G>C (p.Ala4883Pro) c.14677G>C (p.Ala4893Pro) c.14593G>C (p.Ala4865Pro) | ClinVar dbSNP |
| 19 | g.38584976G= | CA2335094941 | RYR1 | c.1616G= c.3013G= c.2985G= n.73G= c.14680G= (p.Ala4894=) c.14665G= (p.Ala4889=) c.14662G= (p.Ala4888=) c.14647G= (p.Ala4883=) c.14677G= (p.Ala4893=) c.14593G= (p.Ala4865=) | |
| 19 | g.38584976G>T | CA405690256 | RYR1 | c.1616G>T c.3013G>T c.2985G>T n.73G>T c.14680G>T (p.Ala4894Ser) c.14665G>T (p.Ala4889Ser) c.14662G>T (p.Ala4888Ser) c.14647G>T (p.Ala4883Ser) c.14677G>T (p.Ala4893Ser) c.14593G>T (p.Ala4865Ser) | |
| 19 | g.38584977C>A | CA405690259 | RYR1 | c.1617C>A c.3014C>A c.2986C>A n.74C>A c.14681C>A (p.Ala4894Asp) c.14666C>A (p.Ala4889Asp) c.14663C>A (p.Ala4888Asp) c.14648C>A (p.Ala4883Asp) c.14678C>A (p.Ala4893Asp) c.14594C>A (p.Ala4865Asp) | ClinVar dbSNP |
| 19 | g.38584977C= | CA2335094942 | RYR1 | c.1617C= c.3014C= c.2986C= n.74C= c.14681C= (p.Ala4894=) c.14666C= (p.Ala4889=) c.14663C= (p.Ala4888=) c.14648C= (p.Ala4883=) c.14678C= (p.Ala4893=) c.14594C= (p.Ala4865=) | |
| 19 | g.38584977C>G | CA405690261 | RYR1 | c.1617C>G c.3014C>G c.2986C>G n.74C>G c.14681C>G (p.Ala4894Gly) c.14666C>G (p.Ala4889Gly) c.14663C>G (p.Ala4888Gly) c.14648C>G (p.Ala4883Gly) c.14678C>G (p.Ala4893Gly) c.14594C>G (p.Ala4865Gly) | |
| 19 | g.38584977C>T | CA024229 | RYR1 | c.1617C>T c.3014C>T c.2986C>T n.74C>T c.14681C>T (p.Ala4894Val) c.14666C>T (p.Ala4889Val) c.14663C>T (p.Ala4888Val) c.14648C>T (p.Ala4883Val) c.14678C>T (p.Ala4893Val) c.14594C>T (p.Ala4865Val) | ClinVar dbSNP |
| 19 | g.38584978T>A | CA507246330 | RYR1 | c.1618T>A c.3015T>A c.2987T>A n.75T>A c.14682T>A (p.Ala4894=) c.14667T>A (p.Ala4889=) c.14664T>A (p.Ala4888=) c.14649T>A (p.Ala4883=) c.14679T>A (p.Ala4893=) c.14595T>A (p.Ala4865=) | |
| 19 | g.38584978T>C | CA507246332 | RYR1 | c.1618T>C c.3015T>C c.2987T>C n.75T>C c.14682T>C (p.Ala4894=) c.14667T>C (p.Ala4889=) c.14664T>C (p.Ala4888=) c.14649T>C (p.Ala4883=) c.14679T>C (p.Ala4893=) c.14595T>C (p.Ala4865=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38584978T>G | CA507246333 | RYR1 | c.1618T>G c.3015T>G c.2987T>G n.75T>G c.14682T>G (p.Ala4894=) c.14667T>G (p.Ala4889=) c.14664T>G (p.Ala4888=) c.14649T>G (p.Ala4883=) c.14679T>G (p.Ala4893=) c.14595T>G (p.Ala4865=) | |
| 19 | g.38584978T= | CA2335094943 | RYR1 | c.1618T= c.3015T= c.2987T= n.75T= c.14682T= (p.Ala4894=) c.14667T= (p.Ala4889=) c.14664T= (p.Ala4888=) c.14649T= (p.Ala4883=) c.14679T= (p.Ala4893=) c.14595T= (p.Ala4865=) | |
| 19 | g.38584979G>A | CA405690265 | RYR1 | c.1619G>A c.3016G>A c.2988G>A n.76G>A c.14683G>A (p.Gly4895Ser) c.14668G>A (p.Gly4890Ser) c.14665G>A (p.Gly4889Ser) c.14650G>A (p.Gly4884Ser) c.14680G>A (p.Gly4894Ser) c.14596G>A (p.Gly4866Ser) | |
| 19 | g.38584979G>C | CA405690266 | RYR1 | c.1619G>C c.3016G>C c.2988G>C n.76G>C c.14683G>C (p.Gly4895Arg) c.14668G>C (p.Gly4890Arg) c.14665G>C (p.Gly4889Arg) c.14650G>C (p.Gly4884Arg) c.14680G>C (p.Gly4894Arg) c.14596G>C (p.Gly4866Arg) | |
| 19 | g.38584979G>T | CA405690267 | RYR1 | c.1619G>T c.3016G>T c.2988G>T n.76G>T c.14683G>T (p.Gly4895Cys) c.14668G>T (p.Gly4890Cys) c.14665G>T (p.Gly4889Cys) c.14650G>T (p.Gly4884Cys) c.14680G>T (p.Gly4894Cys) c.14596G>T (p.Gly4866Cys) | |
| 19 | g.38584980G>A | CA405690268 | RYR1 | c.1620G>A c.3017G>A c.2989G>A n.77G>A c.14684G>A (p.Gly4895Asp) c.14669G>A (p.Gly4890Asp) c.14666G>A (p.Gly4889Asp) c.14651G>A (p.Gly4884Asp) c.14681G>A (p.Gly4894Asp) c.14597G>A (p.Gly4866Asp) | COSMIC |
| 19 | g.38584980G>C | CA405690269 | RYR1 | c.1620G>C c.3017G>C c.2989G>C n.77G>C c.14684G>C (p.Gly4895Ala) c.14669G>C (p.Gly4890Ala) c.14666G>C (p.Gly4889Ala) c.14651G>C (p.Gly4884Ala) c.14681G>C (p.Gly4894Ala) c.14597G>C (p.Gly4866Ala) | |
| 19 | g.38584980G= | CA2335094944 | RYR1 | c.1620G= c.3017G= c.2989G= n.77G= c.14684G= (p.Gly4895=) c.14669G= (p.Gly4890=) c.14666G= (p.Gly4889=) c.14651G= (p.Gly4884=) c.14681G= (p.Gly4894=) c.14597G= (p.Gly4866=) | |
| 19 | g.38584980G>T | CA405690270 | RYR1 | c.1620G>T c.3017G>T c.2989G>T n.77G>T c.14684G>T (p.Gly4895Val) c.14669G>T (p.Gly4890Val) c.14666G>T (p.Gly4889Val) c.14651G>T (p.Gly4884Val) c.14681G>T (p.Gly4894Val) c.14597G>T (p.Gly4866Val) | ClinVar dbSNP |
| 19 | g.38584981C>A | CA507246335 | RYR1 | c.1621C>A c.3018C>A c.2990C>A n.78C>A c.14685C>A (p.Gly4895=) c.14670C>A (p.Gly4890=) c.14667C>A (p.Gly4889=) c.14652C>A (p.Gly4884=) c.14682C>A (p.Gly4894=) c.14598C>A (p.Gly4866=) | |
| 19 | g.38584981C= | CA2335094945 | RYR1 | c.1621C= c.3018C= c.2990C= n.78C= c.14685C= (p.Gly4895=) c.14670C= (p.Gly4890=) c.14667C= (p.Gly4889=) c.14652C= (p.Gly4884=) c.14682C= (p.Gly4894=) c.14598C= (p.Gly4866=) | |
| 19 | g.38584981C>G | CA507246336 | RYR1 | c.1621C>G c.3018C>G c.2990C>G n.78C>G c.14685C>G (p.Gly4895=) c.14670C>G (p.Gly4890=) c.14667C>G (p.Gly4889=) c.14652C>G (p.Gly4884=) c.14682C>G (p.Gly4894=) c.14598C>G (p.Gly4866=) | |
| 19 | g.38584981C>T | CA061513 | RYR1 | c.1621C>T c.3018C>T c.2990C>T n.78C>T c.14685C>T (p.Gly4895=) c.14670C>T (p.Gly4890=) c.14667C>T (p.Gly4889=) c.14652C>T (p.Gly4884=) c.14682C>T (p.Gly4894=) c.14598C>T (p.Gly4866=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38584982G>A | CA405690275 | RYR1 | c.1622G>A c.3019G>A c.2991G>A n.79G>A c.14686G>A (p.Gly4896Arg) c.14671G>A (p.Gly4891Arg) c.14668G>A (p.Gly4890Arg) c.14653G>A (p.Gly4885Arg) c.14683G>A (p.Gly4895Arg) c.14599G>A (p.Gly4867Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.38584982G>C | CA405690279 | RYR1 | c.1622G>C c.3019G>C c.2991G>C n.79G>C c.14686G>C (p.Gly4896Arg) c.14671G>C (p.Gly4891Arg) c.14668G>C (p.Gly4890Arg) c.14653G>C (p.Gly4885Arg) c.14683G>C (p.Gly4895Arg) c.14599G>C (p.Gly4867Arg) |