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.38584989T>A | CA405690302 | RYR1 | c.1629T>A c.3026T>A c.2998T>A n.86T>A c.14693T>A (p.Ile4898Asn) c.14678T>A (p.Ile4893Asn) c.14675T>A (p.Ile4892Asn) c.14660T>A (p.Ile4887Asn) c.14690T>A (p.Ile4897Asn) c.14606T>A (p.Ile4869Asn) | ClinVar dbSNP |
| 19 | g.38584989T>C | CA024233 | RYR1 | c.1629T>C c.3026T>C c.2998T>C n.86T>C c.14693T>C (p.Ile4898Thr) c.14678T>C (p.Ile4893Thr) c.14675T>C (p.Ile4892Thr) c.14660T>C (p.Ile4887Thr) c.14690T>C (p.Ile4897Thr) c.14606T>C (p.Ile4869Thr) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38584989T>G | CA405690306 | RYR1 | c.1629T>G c.3026T>G c.2998T>G n.86T>G c.14693T>G (p.Ile4898Ser) c.14678T>G (p.Ile4893Ser) c.14675T>G (p.Ile4892Ser) c.14660T>G (p.Ile4887Ser) c.14690T>G (p.Ile4897Ser) c.14606T>G (p.Ile4869Ser) | ClinVar |
| 19 | g.38584989T= | CA2335094949 | RYR1 | c.1629T= c.3026T= c.2998T= n.86T= c.14693T= (p.Ile4898=) c.14678T= (p.Ile4893=) c.14675T= (p.Ile4892=) c.14660T= (p.Ile4887=) c.14690T= (p.Ile4897=) c.14606T= (p.Ile4869=) | |
| 19 | g.38584990dup | CA2584911050 | RYR1 | c.1630dup c.3027dup c.2999dup n.87dup c.14694dup (p.Gly4899TrpfsTer10) c.14679dup (p.Gly4894TrpfsTer10) c.14676dup (p.Gly4893TrpfsTer10) c.14661dup (p.Gly4888TrpfsTer10) c.14691dup (p.Gly4898TrpfsTer10) c.14607dup (p.Gly4870TrpfsTer10) | gnomAD v4 |
| 19 | g.38584990T>A | CA507246348 | RYR1 | c.1630T>A c.3027T>A c.2999T>A n.87T>A c.14694T>A (p.Ile4898=) c.14679T>A (p.Ile4893=) c.14676T>A (p.Ile4892=) c.14661T>A (p.Ile4887=) c.14691T>A (p.Ile4897=) c.14607T>A (p.Ile4869=) | |
| 19 | g.38584990T>C | CA507246347 | RYR1 | c.1630T>C c.3027T>C c.2999T>C n.87T>C c.14694T>C (p.Ile4898=) c.14679T>C (p.Ile4893=) c.14676T>C (p.Ile4892=) c.14661T>C (p.Ile4887=) c.14691T>C (p.Ile4897=) c.14607T>C (p.Ile4869=) | gnomAD v4 |
| 19 | g.38584990T>G | CA405690307 | RYR1 | c.1630T>G c.3027T>G c.2999T>G n.87T>G c.14694T>G (p.Ile4898Met) c.14679T>G (p.Ile4893Met) c.14676T>G (p.Ile4892Met) c.14661T>G (p.Ile4887Met) c.14691T>G (p.Ile4897Met) c.14607T>G (p.Ile4869Met) | |
| 19 | g.38584991G>A | CA024235 | RYR1 | c.1631G>A c.3028G>A c.3000G>A n.88G>A c.14695G>A (p.Gly4899Arg) c.14680G>A (p.Gly4894Arg) c.14677G>A (p.Gly4893Arg) c.14662G>A (p.Gly4888Arg) c.14692G>A (p.Gly4898Arg) c.14608G>A (p.Gly4870Arg) | ClinVar dbSNP |
| 19 | g.38584991G>C | CA405690308 | RYR1 | c.1631G>C c.3028G>C c.3000G>C n.88G>C c.14695G>C (p.Gly4899Arg) c.14680G>C (p.Gly4894Arg) c.14677G>C (p.Gly4893Arg) c.14662G>C (p.Gly4888Arg) c.14692G>C (p.Gly4898Arg) c.14608G>C (p.Gly4870Arg) | |
| 19 | g.38584991G= | CA2335094950 | RYR1 | c.1631G= c.3028G= c.3000G= n.88G= c.14695G= (p.Gly4899=) c.14680G= (p.Gly4894=) c.14677G= (p.Gly4893=) c.14662G= (p.Gly4888=) c.14692G= (p.Gly4898=) c.14608G= (p.Gly4870=) | |
| 19 | g.38584991G>T | CA405690309 | RYR1 | c.1631G>T c.3028G>T c.3000G>T n.88G>T c.14695G>T (p.Gly4899Trp) c.14680G>T (p.Gly4894Trp) c.14677G>T (p.Gly4893Trp) c.14662G>T (p.Gly4888Trp) c.14692G>T (p.Gly4898Trp) c.14608G>T (p.Gly4870Trp) | |
| 19 | g.38584992G>A | CA024237 | RYR1 | c.1632G>A c.3029G>A c.3001G>A n.89G>A c.14696G>A (p.Gly4899Glu) c.14681G>A (p.Gly4894Glu) c.14678G>A (p.Gly4893Glu) c.14663G>A (p.Gly4888Glu) c.14693G>A (p.Gly4898Glu) c.14609G>A (p.Gly4870Glu) | ClinVar dbSNP |
| 19 | g.38584992G>C | CA405690312 | RYR1 | c.1632G>C c.3029G>C c.3001G>C n.89G>C c.14696G>C (p.Gly4899Ala) c.14681G>C (p.Gly4894Ala) c.14678G>C (p.Gly4893Ala) c.14663G>C (p.Gly4888Ala) c.14693G>C (p.Gly4898Ala) c.14609G>C (p.Gly4870Ala) | |
| 19 | g.38584992G= | CA2335094951 | RYR1 | c.1632G= c.3029G= c.3001G= n.89G= c.14696G= (p.Gly4899=) c.14681G= (p.Gly4894=) c.14678G= (p.Gly4893=) c.14663G= (p.Gly4888=) c.14693G= (p.Gly4898=) c.14609G= (p.Gly4870=) | |
| 19 | g.38584992G>T | CA405690314 | RYR1 | c.1632G>T c.3029G>T c.3001G>T n.89G>T c.14696G>T (p.Gly4899Val) c.14681G>T (p.Gly4894Val) c.14678G>T (p.Gly4893Val) c.14663G>T (p.Gly4888Val) c.14693G>T (p.Gly4898Val) c.14609G>T (p.Gly4870Val) | |
| 19 | g.38584993G>A | CA061519 | RYR1 | c.1633G>A c.3030G>A c.3002G>A n.90G>A c.14697G>A (p.Gly4899=) c.14682G>A (p.Gly4894=) c.14679G>A (p.Gly4893=) c.14664G>A (p.Gly4888=) c.14694G>A (p.Gly4898=) c.14610G>A (p.Gly4870=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38584993G>C | CA507246351 | RYR1 | c.1633G>C c.3030G>C c.3002G>C n.90G>C c.14697G>C (p.Gly4899=) c.14682G>C (p.Gly4894=) c.14679G>C (p.Gly4893=) c.14664G>C (p.Gly4888=) c.14694G>C (p.Gly4898=) c.14610G>C (p.Gly4870=) | |
| 19 | g.38584993G= | CA2335094952 | RYR1 | c.1633G= c.3030G= c.3002G= n.90G= c.14697G= (p.Gly4899=) c.14682G= (p.Gly4894=) c.14679G= (p.Gly4893=) c.14664G= (p.Gly4888=) c.14694G= (p.Gly4898=) c.14610G= (p.Gly4870=) | |
| 19 | g.38584993G>T | CA061521 | RYR1 | c.1633G>T c.3030G>T c.3002G>T n.90G>T c.14697G>T (p.Gly4899=) c.14682G>T (p.Gly4894=) c.14679G>T (p.Gly4893=) c.14664G>T (p.Gly4888=) c.14694G>T (p.Gly4898=) c.14610G>T (p.Gly4870=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38584994G>A | CA405690320 | RYR1 | c.1634G>A c.3031G>A c.3003G>A n.91G>A c.14698G>A (p.Asp4900Asn) c.14683G>A (p.Asp4895Asn) c.14680G>A (p.Asp4894Asn) c.14665G>A (p.Asp4889Asn) c.14695G>A (p.Asp4899Asn) c.14611G>A (p.Asp4871Asn) | |
| 19 | g.38584994G>C | CA405690323 | RYR1 | c.1634G>C c.3031G>C c.3003G>C n.91G>C c.14698G>C (p.Asp4900His) c.14683G>C (p.Asp4895His) c.14680G>C (p.Asp4894His) c.14665G>C (p.Asp4889His) c.14695G>C (p.Asp4899His) c.14611G>C (p.Asp4871His) | |
| 19 | g.38584994G>T | CA405690327 | RYR1 | c.1634G>T c.3031G>T c.3003G>T n.91G>T c.14698G>T (p.Asp4900Tyr) c.14683G>T (p.Asp4895Tyr) c.14680G>T (p.Asp4894Tyr) c.14665G>T (p.Asp4889Tyr) c.14695G>T (p.Asp4899Tyr) c.14611G>T (p.Asp4871Tyr) | |
| 19 | g.38584995A>C | CA405690330 | RYR1 | c.1635A>C c.3032A>C c.3004A>C n.92A>C c.14699A>C (p.Asp4900Ala) c.14684A>C (p.Asp4895Ala) c.14681A>C (p.Asp4894Ala) c.14666A>C (p.Asp4889Ala) c.14696A>C (p.Asp4899Ala) c.14612A>C (p.Asp4871Ala) | |
| 19 | g.38584995A>G | CA405690333 | RYR1 | c.1635A>G c.3032A>G c.3004A>G n.92A>G c.14699A>G (p.Asp4900Gly) c.14684A>G (p.Asp4895Gly) c.14681A>G (p.Asp4894Gly) c.14666A>G (p.Asp4889Gly) c.14696A>G (p.Asp4899Gly) c.14612A>G (p.Asp4871Gly) | dbSNP COSMIC |
| 19 | g.38584995A>T | CA405690342 | RYR1 | c.1635A>T c.3032A>T c.3004A>T n.92A>T c.14699A>T (p.Asp4900Val) c.14684A>T (p.Asp4895Val) c.14681A>T (p.Asp4894Val) c.14666A>T (p.Asp4889Val) c.14696A>T (p.Asp4899Val) c.14612A>T (p.Asp4871Val) | |
| 19 | g.38584996C>A | CA405690351 | RYR1 | c.1636C>A c.3033C>A c.3005C>A n.93C>A c.14700C>A (p.Asp4900Glu) c.14685C>A (p.Asp4895Glu) c.14682C>A (p.Asp4894Glu) c.14667C>A (p.Asp4889Glu) c.14697C>A (p.Asp4899Glu) c.14613C>A (p.Asp4871Glu) | |
| 19 | g.38584996C= | CA2335094953 | RYR1 | c.1636C= c.3033C= c.3005C= n.93C= c.14700C= (p.Asp4900=) c.14685C= (p.Asp4895=) c.14682C= (p.Asp4894=) c.14667C= (p.Asp4889=) c.14697C= (p.Asp4899=) c.14613C= (p.Asp4871=) | |
| 19 | g.38584996C>G | CA405690348 | RYR1 | c.1636C>G c.3033C>G c.3005C>G n.93C>G c.14700C>G (p.Asp4900Glu) c.14685C>G (p.Asp4895Glu) c.14682C>G (p.Asp4894Glu) c.14667C>G (p.Asp4889Glu) c.14697C>G (p.Asp4899Glu) c.14613C>G (p.Asp4871Glu) | |
| 19 | g.38584996C>T | CA081298 | RYR1 | c.1636C>T c.3033C>T c.3005C>T n.93C>T c.14700C>T (p.Asp4900=) c.14685C>T (p.Asp4895=) c.14682C>T (p.Asp4894=) c.14667C>T (p.Asp4889=) c.14697C>T (p.Asp4899=) c.14613C>T (p.Asp4871=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38584998_38585012dup | CA2580097258 | RYR1 | c.1638_1652dup c.3035_3049dup c.3007_3021dup n.95_109dup c.14702_14716dup (p.Pro4905_Ala4906insGluIleGluAspPro) c.14687_14701dup (p.Pro4900_Ala4901insGluIleGluAspPro) c.14684_14698dup (p.Pro4899_Ala4900insGluIleGluAspPro) c.14669_14683dup (p.Pro4894_Ala4895insGluIleGluAspPro) c.14699_14713dup (p.Pro4904_Ala4905insGluIleGluAspPro) c.14615_14629dup (p.Pro4876_Ala4877insGluIleGluAspPro) | ClinVar |
| 19 | g.38584997G>A | CA061530 | RYR1 | c.1637G>A c.3034G>A c.3006G>A n.94G>A c.14701G>A (p.Glu4901Lys) c.14686G>A (p.Glu4896Lys) c.14683G>A (p.Glu4895Lys) c.14668G>A (p.Glu4890Lys) c.14698G>A (p.Glu4900Lys) c.14614G>A (p.Glu4872Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38584997G>C | CA405690362 | RYR1 | c.1637G>C c.3034G>C c.3006G>C n.94G>C c.14701G>C (p.Glu4901Gln) c.14686G>C (p.Glu4896Gln) c.14683G>C (p.Glu4895Gln) c.14668G>C (p.Glu4890Gln) c.14698G>C (p.Glu4900Gln) c.14614G>C (p.Glu4872Gln) | |
| 19 | g.38584997G= | CA2335094954 | RYR1 | c.1637G= c.3034G= c.3006G= n.94G= c.14701G= (p.Glu4901=) c.14686G= (p.Glu4896=) c.14683G= (p.Glu4895=) c.14668G= (p.Glu4890=) c.14698G= (p.Glu4900=) c.14614G= (p.Glu4872=) | |
| 19 | g.38584997G>T | CA405690358 | RYR1 | c.1637G>T c.3034G>T c.3006G>T n.94G>T c.14701G>T (p.Glu4901Ter) c.14686G>T (p.Glu4896Ter) c.14683G>T (p.Glu4895Ter) c.14668G>T (p.Glu4890Ter) c.14698G>T (p.Glu4900Ter) c.14614G>T (p.Glu4872Ter) | |
| 19 | g.38584998A>C | CA405690368 | RYR1 | c.1638A>C c.3035A>C c.3007A>C n.95A>C c.14702A>C (p.Glu4901Ala) c.14687A>C (p.Glu4896Ala) c.14684A>C (p.Glu4895Ala) c.14669A>C (p.Glu4890Ala) c.14699A>C (p.Glu4900Ala) c.14615A>C (p.Glu4872Ala) | |
| 19 | g.38584998A>G | CA405690371 | RYR1 | c.1638A>G c.3035A>G c.3007A>G n.95A>G c.14702A>G (p.Glu4901Gly) c.14687A>G (p.Glu4896Gly) c.14684A>G (p.Glu4895Gly) c.14669A>G (p.Glu4890Gly) c.14699A>G (p.Glu4900Gly) c.14615A>G (p.Glu4872Gly) | |
| 19 | g.38584998A>T | CA405690372 | RYR1 | c.1638A>T c.3035A>T c.3007A>T n.95A>T c.14702A>T (p.Glu4901Val) c.14687A>T (p.Glu4896Val) c.14684A>T (p.Glu4895Val) c.14669A>T (p.Glu4890Val) c.14699A>T (p.Glu4900Val) c.14615A>T (p.Glu4872Val) | |
| 19 | g.38584999G>A | CA507246355 | RYR1 | c.1639G>A c.3036G>A c.3008G>A n.96G>A c.14703G>A (p.Glu4901=) c.14688G>A (p.Glu4896=) c.14685G>A (p.Glu4895=) c.14670G>A (p.Glu4890=) c.14700G>A (p.Glu4900=) c.14616G>A (p.Glu4872=) | |
| 19 | g.38584999G>C | CA405690377 | RYR1 | c.1639G>C c.3036G>C c.3008G>C n.96G>C c.14703G>C (p.Glu4901Asp) c.14688G>C (p.Glu4896Asp) c.14685G>C (p.Glu4895Asp) c.14670G>C (p.Glu4890Asp) c.14700G>C (p.Glu4900Asp) c.14616G>C (p.Glu4872Asp) | |
| 19 | g.38584999G>T | CA405690380 | RYR1 | c.1639G>T c.3036G>T c.3008G>T n.96G>T c.14703G>T (p.Glu4901Asp) c.14688G>T (p.Glu4896Asp) c.14685G>T (p.Glu4895Asp) c.14670G>T (p.Glu4890Asp) c.14700G>T (p.Glu4900Asp) c.14616G>T (p.Glu4872Asp) | |
| 19 | g.38585000A>C | CA405690383 | RYR1 | c.1640A>C c.3037A>C c.3009A>C n.97A>C c.14704A>C (p.Ile4902Leu) c.14689A>C (p.Ile4897Leu) c.14686A>C (p.Ile4896Leu) c.14671A>C (p.Ile4891Leu) c.14701A>C (p.Ile4901Leu) c.14617A>C (p.Ile4873Leu) | |
| 19 | g.38585000A>G | CA405690384 | RYR1 | c.1640A>G c.3037A>G c.3009A>G n.97A>G c.14704A>G (p.Ile4902Val) c.14689A>G (p.Ile4897Val) c.14686A>G (p.Ile4896Val) c.14671A>G (p.Ile4891Val) c.14701A>G (p.Ile4901Val) c.14617A>G (p.Ile4873Val) | |
| 19 | g.38585000A>T | CA405690385 | RYR1 | c.1640A>T c.3037A>T c.3009A>T n.97A>T c.14704A>T (p.Ile4902Phe) c.14689A>T (p.Ile4897Phe) c.14686A>T (p.Ile4896Phe) c.14671A>T (p.Ile4891Phe) c.14701A>T (p.Ile4901Phe) c.14617A>T (p.Ile4873Phe) | |
| 19 | g.38585001T>A | CA405690386 | RYR1 | c.1641T>A c.3038T>A c.3010T>A n.98T>A c.14705T>A (p.Ile4902Asn) c.14690T>A (p.Ile4897Asn) c.14687T>A (p.Ile4896Asn) c.14672T>A (p.Ile4891Asn) c.14702T>A (p.Ile4901Asn) c.14618T>A (p.Ile4873Asn) | |
| 19 | g.38585001T>C | CA405690387 | RYR1 | c.1641T>C c.3038T>C c.3010T>C n.98T>C c.14705T>C (p.Ile4902Thr) c.14690T>C (p.Ile4897Thr) c.14687T>C (p.Ile4896Thr) c.14672T>C (p.Ile4891Thr) c.14702T>C (p.Ile4901Thr) c.14618T>C (p.Ile4873Thr) | ClinVar dbSNP |
| 19 | g.38585001T>G | CA405690389 | RYR1 | c.1641T>G c.3038T>G c.3010T>G n.98T>G c.14705T>G (p.Ile4902Ser) c.14690T>G (p.Ile4897Ser) c.14687T>G (p.Ile4896Ser) c.14672T>G (p.Ile4891Ser) c.14702T>G (p.Ile4901Ser) c.14618T>G (p.Ile4873Ser) | |
| 19 | g.38585001T= | CA2335094955 | RYR1 | c.1641T= c.3038T= c.3010T= n.98T= c.14705T= (p.Ile4902=) c.14690T= (p.Ile4897=) c.14687T= (p.Ile4896=) c.14672T= (p.Ile4891=) c.14702T= (p.Ile4901=) c.14618T= (p.Ile4873=) | |
| 19 | g.38585002C>A | CA507246358 | RYR1 | c.1642C>A c.3039C>A c.3011C>A n.99C>A c.14706C>A (p.Ile4902=) c.14691C>A (p.Ile4897=) c.14688C>A (p.Ile4896=) c.14673C>A (p.Ile4891=) c.14703C>A (p.Ile4901=) c.14619C>A (p.Ile4873=) | |
| 19 | g.38585002C= | CA2335094956 | RYR1 | c.1642C= c.3039C= c.3011C= n.99C= c.14706C= (p.Ile4902=) c.14691C= (p.Ile4897=) c.14688C= (p.Ile4896=) c.14673C= (p.Ile4891=) c.14703C= (p.Ile4901=) c.14619C= (p.Ile4873=) |