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.38565293_38565320del | CA2584909136 | RYR1 | c.1369_1396del c.1351_1378del c.12959_12986del (p.Leu4320ProfsTer12) c.12944_12971del (p.Leu4315ProfsTer12) c.12941_12968del (p.Leu4314ProfsTer12) c.12926_12953del (p.Leu4309ProfsTer12) c.12956_12983del (p.Leu4319ProfsTer12) | gnomAD v4 |
| 19 | g.38565310_38565321del | CA2584909138 | RYR1 | c.1386_1397del c.1368_1379del c.12976_12987del (p.Arg4326_Ala4329del) c.12961_12972del (p.Arg4321_Ala4324del) c.12958_12969del (p.Arg4320_Ala4323del) c.12943_12954del (p.Arg4315_Ala4318del) c.12973_12984del (p.Arg4325_Ala4328del) | gnomAD v4 |
| 19 | g.38565320C>A | CA024025 | RYR1 | c.1396C>A c.1378C>A c.12986C>A (p.Ala4329Asp) c.12971C>A (p.Ala4324Asp) c.12968C>A (p.Ala4323Asp) c.12953C>A (p.Ala4318Asp) c.12983C>A (p.Ala4328Asp) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38565320C= | CA2335084810 | RYR1 | c.1396C= c.1378C= c.12986C= (p.Ala4329=) c.12971C= (p.Ala4324=) c.12968C= (p.Ala4323=) c.12953C= (p.Ala4318=) c.12983C= (p.Ala4328=) | |
| 19 | g.38565320C>G | CA405672852 | RYR1 | c.1396C>G c.1378C>G c.12986C>G (p.Ala4329Gly) c.12971C>G (p.Ala4324Gly) c.12968C>G (p.Ala4323Gly) c.12953C>G (p.Ala4318Gly) c.12983C>G (p.Ala4328Gly) | |
| 19 | g.38565320C>T | CA405672854 | RYR1 | c.1396C>T c.1378C>T c.12986C>T (p.Ala4329Val) c.12971C>T (p.Ala4324Val) c.12968C>T (p.Ala4323Val) c.12953C>T (p.Ala4318Val) c.12983C>T (p.Ala4328Val) | gnomAD v4 |
| 19 | g.38565320_38565322delinsCCA | CA2335084809 | RYR1 | c.1396_1398delinsCCA c.1378_1380delinsCCA c.12986_12988delinsCCA (p.Ala4329=) c.12971_12973delinsCCA (p.Ala4324=) c.12968_12970delinsCCA (p.Ala4323=) c.12953_12955delinsCCA (p.Ala4318=) c.12983_12985delinsCCA (p.Ala4328=) | |
| 19 | g.38565321C>A | CA507355744 | RYR1 | c.1397C>A c.1379C>A c.12987C>A (p.Ala4329=) c.12972C>A (p.Ala4324=) c.12969C>A (p.Ala4323=) c.12954C>A (p.Ala4318=) c.12984C>A (p.Ala4328=) | |
| 19 | g.38565321C= | CA2335084811 | RYR1 | c.1397C= c.1379C= c.12987C= (p.Ala4329=) c.12972C= (p.Ala4324=) c.12969C= (p.Ala4323=) c.12954C= (p.Ala4318=) c.12984C= (p.Ala4328=) | |
| 19 | g.38565321C>G | CA507355745 | RYR1 | c.1397C>G c.1379C>G c.12987C>G (p.Ala4329=) c.12972C>G (p.Ala4324=) c.12969C>G (p.Ala4323=) c.12954C>G (p.Ala4318=) c.12984C>G (p.Ala4328=) | |
| 19 | g.38565321C>T | CA507355746 | RYR1 | c.1397C>T c.1379C>T c.12987C>T (p.Ala4329=) c.12972C>T (p.Ala4324=) c.12969C>T (p.Ala4323=) c.12954C>T (p.Ala4318=) c.12984C>T (p.Ala4328=) | dbSNP |
| 19 | g.38565322_38565323del | CA995731632 | RYR1 | c.1398_1399del c.1380_1381del c.12988_12989del (p.Thr4330ArgfsTer?) c.12973_12974del (p.Thr4325ArgfsTer?) c.12970_12971del (p.Thr4324ArgfsTer?) c.12955_12956del (p.Thr4319ArgfsTer?) c.12985_12986del (p.Thr4329ArgfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565322A= | CA2335084812 | RYR1 | c.1398A= c.1380A= c.12988A= (p.Thr4330=) c.12973A= (p.Thr4325=) c.12970A= (p.Thr4324=) c.12955A= (p.Thr4319=) c.12985A= (p.Thr4329=) | |
| 19 | g.38565322A>C | CA405672859 | RYR1 | c.1398A>C c.1380A>C c.12988A>C (p.Thr4330Pro) c.12973A>C (p.Thr4325Pro) c.12970A>C (p.Thr4324Pro) c.12955A>C (p.Thr4319Pro) c.12985A>C (p.Thr4329Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565322A>G | CA405672861 | RYR1 | c.1398A>G c.1380A>G c.12988A>G (p.Thr4330Ala) c.12973A>G (p.Thr4325Ala) c.12970A>G (p.Thr4324Ala) c.12955A>G (p.Thr4319Ala) c.12985A>G (p.Thr4329Ala) | gnomAD v4 |
| 19 | g.38565322A>T | CA405672863 | RYR1 | c.1398A>T c.1380A>T c.12988A>T (p.Thr4330Ser) c.12973A>T (p.Thr4325Ser) c.12970A>T (p.Thr4324Ser) c.12955A>T (p.Thr4319Ser) c.12985A>T (p.Thr4329Ser) | |
| 19 | g.38565323C>A | CA405672872 | RYR1 | c.1399C>A c.1381C>A c.12989C>A (p.Thr4330Asn) c.12974C>A (p.Thr4325Asn) c.12971C>A (p.Thr4324Asn) c.12956C>A (p.Thr4319Asn) c.12986C>A (p.Thr4329Asn) | |
| 19 | g.38565323C>G | CA405672877 | RYR1 | c.1399C>G c.1381C>G c.12989C>G (p.Thr4330Ser) c.12974C>G (p.Thr4325Ser) c.12971C>G (p.Thr4324Ser) c.12956C>G (p.Thr4319Ser) c.12986C>G (p.Thr4329Ser) | gnomAD v3 gnomAD v4 |
| 19 | g.38565323C>T | CA405672876 | RYR1 | c.1399C>T c.1381C>T c.12989C>T (p.Thr4330Ile) c.12974C>T (p.Thr4325Ile) c.12971C>T (p.Thr4324Ile) c.12956C>T (p.Thr4319Ile) c.12986C>T (p.Thr4329Ile) | ClinVar |
| 19 | g.38565324C>A | CA507355748 | RYR1 | c.1400C>A c.1382C>A c.12990C>A (p.Thr4330=) c.12975C>A (p.Thr4325=) c.12972C>A (p.Thr4324=) c.12957C>A (p.Thr4319=) c.12987C>A (p.Thr4329=) | |
| 19 | g.38565324C= | CA2335084813 | RYR1 | c.1400C= c.1382C= c.12990C= (p.Thr4330=) c.12975C= (p.Thr4325=) c.12972C= (p.Thr4324=) c.12957C= (p.Thr4319=) c.12987C= (p.Thr4329=) | |
| 19 | g.38565324C>G | CA10607086 | RYR1 | c.1400C>G c.1382C>G c.12990C>G (p.Thr4330=) c.12975C>G (p.Thr4325=) c.12972C>G (p.Thr4324=) c.12957C>G (p.Thr4319=) c.12987C>G (p.Thr4329=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565324C>T | CA024027 | RYR1 | c.1400C>T c.1382C>T c.12990C>T (p.Thr4330=) c.12975C>T (p.Thr4325=) c.12972C>T (p.Thr4324=) c.12957C>T (p.Thr4319=) c.12987C>T (p.Thr4329=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565325G>A | CA405672881 | RYR1 | c.1401G>A c.1383G>A c.12991G>A (p.Ala4331Thr) c.12976G>A (p.Ala4326Thr) c.12973G>A (p.Ala4325Thr) c.12958G>A (p.Ala4320Thr) c.12988G>A (p.Ala4330Thr) | dbSNP gnomAD v4 |
| 19 | g.38565325G>C | CA405672883 | RYR1 | c.1401G>C c.1383G>C c.12991G>C (p.Ala4331Pro) c.12976G>C (p.Ala4326Pro) c.12973G>C (p.Ala4325Pro) c.12958G>C (p.Ala4320Pro) c.12988G>C (p.Ala4330Pro) | |
| 19 | g.38565325G= | CA2335084814 | RYR1 | c.1401G= c.1383G= c.12991G= (p.Ala4331=) c.12976G= (p.Ala4326=) c.12973G= (p.Ala4325=) c.12958G= (p.Ala4320=) c.12988G= (p.Ala4330=) | |
| 19 | g.38565325G>T | CA405672885 | RYR1 | c.1401G>T c.1383G>T c.12991G>T (p.Ala4331Ser) c.12976G>T (p.Ala4326Ser) c.12973G>T (p.Ala4325Ser) c.12958G>T (p.Ala4320Ser) c.12988G>T (p.Ala4330Ser) | |
| 19 | g.38565325_38565326insTG | CA995731646 | RYR1 | c.1401_1402insTG c.1383_1384insTG c.12991_12992insTG (p.Ala4331ValfsTer11) c.12976_12977insTG (p.Ala4326ValfsTer11) c.12973_12974insTG (p.Ala4325ValfsTer11) c.12958_12959insTG (p.Ala4320ValfsTer11) c.12988_12989insTG (p.Ala4330ValfsTer11) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565327_38565340del | CA2576772102 | RYR1 | c.1403_1416del c.1385_1398del c.12993_13006del (p.Val4332LeufsTer?) c.12978_12991del (p.Val4327LeufsTer?) c.12975_12988del (p.Val4326LeufsTer?) c.12960_12973del (p.Val4321LeufsTer?) c.12990_13003del (p.Val4331LeufsTer?) | |
| 19 | g.38565331_38565354dup | CA2584909139 | RYR1 | c.1407_1430dup c.1389_1412dup c.12997_13020dup (p.Val4340_Thr4341insAlaAlaLeuLeuTrpAlaAlaVal) c.12982_13005dup (p.Val4335_Thr4336insAlaAlaLeuLeuTrpAlaAlaVal) c.12979_13002dup (p.Val4334_Thr4335insAlaAlaLeuLeuTrpAlaAlaVal) c.12964_12987dup (p.Val4329_Thr4330insAlaAlaLeuLeuTrpAlaAlaVal) c.12994_13017dup (p.Val4339_Thr4340insAlaAlaLeuLeuTrpAlaAlaVal) | gnomAD v4 |
| 19 | g.38565326C>A | CA405672888 | RYR1 | c.1402C>A c.1384C>A c.12992C>A (p.Ala4331Glu) c.12977C>A (p.Ala4326Glu) c.12974C>A (p.Ala4325Glu) c.12959C>A (p.Ala4320Glu) c.12989C>A (p.Ala4330Glu) | |
| 19 | g.38565326C>G | CA405672891 | RYR1 | c.1402C>G c.1384C>G c.12992C>G (p.Ala4331Gly) c.12977C>G (p.Ala4326Gly) c.12974C>G (p.Ala4325Gly) c.12959C>G (p.Ala4320Gly) c.12989C>G (p.Ala4330Gly) | |
| 19 | g.38565326C>T | CA405672892 | RYR1 | c.1402C>T c.1384C>T c.12992C>T (p.Ala4331Val) c.12977C>T (p.Ala4326Val) c.12974C>T (p.Ala4325Val) c.12959C>T (p.Ala4320Val) c.12989C>T (p.Ala4330Val) | ClinVar |
| 19 | g.38565327A>C | CA507355749 | RYR1 | c.1403A>C c.1385A>C c.12993A>C (p.Ala4331=) c.12978A>C (p.Ala4326=) c.12975A>C (p.Ala4325=) c.12960A>C (p.Ala4320=) c.12990A>C (p.Ala4330=) | |
| 19 | g.38565327A>G | CA507355750 | RYR1 | c.1403A>G c.1385A>G c.12993A>G (p.Ala4331=) c.12978A>G (p.Ala4326=) c.12975A>G (p.Ala4325=) c.12960A>G (p.Ala4320=) c.12990A>G (p.Ala4330=) | |
| 19 | g.38565327A>T | CA507355752 | RYR1 | c.1403A>T c.1385A>T c.12993A>T (p.Ala4331=) c.12978A>T (p.Ala4326=) c.12975A>T (p.Ala4325=) c.12960A>T (p.Ala4320=) c.12990A>T (p.Ala4330=) | ClinVar |
| 19 | g.38565328G>A | CA405672893 | RYR1 | c.1404G>A c.1386G>A c.12994G>A (p.Val4332Met) c.12979G>A (p.Val4327Met) c.12976G>A (p.Val4326Met) c.12961G>A (p.Val4321Met) c.12991G>A (p.Val4331Met) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565328G>C | CA405672894 | RYR1 | c.1404G>C c.1386G>C c.12994G>C (p.Val4332Leu) c.12979G>C (p.Val4327Leu) c.12976G>C (p.Val4326Leu) c.12961G>C (p.Val4321Leu) c.12991G>C (p.Val4331Leu) | |
| 19 | g.38565328G= | CA2335084815 | RYR1 | c.1404G= c.1386G= c.12994G= (p.Val4332=) c.12979G= (p.Val4327=) c.12976G= (p.Val4326=) c.12961G= (p.Val4321=) c.12991G= (p.Val4331=) | |
| 19 | g.38565328G>T | CA405672895 | RYR1 | c.1404G>T c.1386G>T c.12994G>T (p.Val4332Leu) c.12979G>T (p.Val4327Leu) c.12976G>T (p.Val4326Leu) c.12961G>T (p.Val4321Leu) c.12991G>T (p.Val4331Leu) | |
| 19 | g.38565329T>A | CA405672900 | RYR1 | c.1405T>A c.1387T>A c.12995T>A (p.Val4332Glu) c.12980T>A (p.Val4327Glu) c.12977T>A (p.Val4326Glu) c.12962T>A (p.Val4321Glu) c.12992T>A (p.Val4331Glu) | |
| 19 | g.38565329T>C | CA405672898 | RYR1 | c.1405T>C c.1387T>C c.12995T>C (p.Val4332Ala) c.12980T>C (p.Val4327Ala) c.12977T>C (p.Val4326Ala) c.12962T>C (p.Val4321Ala) c.12992T>C (p.Val4331Ala) | |
| 19 | g.38565329T>G | CA405672897 | RYR1 | c.1405T>G c.1387T>G c.12995T>G (p.Val4332Gly) c.12980T>G (p.Val4327Gly) c.12977T>G (p.Val4326Gly) c.12962T>G (p.Val4321Gly) c.12992T>G (p.Val4331Gly) | |
| 19 | g.38565330G>A | CA507355756 | RYR1 | c.1406G>A c.1388G>A c.12996G>A (p.Val4332=) c.12981G>A (p.Val4327=) c.12978G>A (p.Val4326=) c.12963G>A (p.Val4321=) c.12993G>A (p.Val4331=) | |
| 19 | g.38565330G>C | CA507355755 | RYR1 | c.1406G>C c.1388G>C c.12996G>C (p.Val4332=) c.12981G>C (p.Val4327=) c.12978G>C (p.Val4326=) c.12963G>C (p.Val4321=) c.12993G>C (p.Val4331=) | |
| 19 | g.38565330G>T | CA507355754 | RYR1 | c.1406G>T c.1388G>T c.12996G>T (p.Val4332=) c.12981G>T (p.Val4327=) c.12978G>T (p.Val4326=) c.12963G>T (p.Val4321=) c.12993G>T (p.Val4331=) | |
| 19 | g.38565331G>A | CA405672903 | RYR1 | c.1407G>A c.1389G>A c.12997G>A (p.Ala4333Thr) c.12982G>A (p.Ala4328Thr) c.12979G>A (p.Ala4327Thr) c.12964G>A (p.Ala4322Thr) c.12994G>A (p.Ala4332Thr) | |
| 19 | g.38565331G>C | CA405672906 | RYR1 | c.1407G>C c.1389G>C c.12997G>C (p.Ala4333Pro) c.12982G>C (p.Ala4328Pro) c.12979G>C (p.Ala4327Pro) c.12964G>C (p.Ala4322Pro) c.12994G>C (p.Ala4332Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565331G= | CA2335084816 | RYR1 | c.1407G= c.1389G= c.12997G= (p.Ala4333=) c.12982G= (p.Ala4328=) c.12979G= (p.Ala4327=) c.12964G= (p.Ala4322=) c.12994G= (p.Ala4332=) | |
| 19 | g.38565331G>T | CA405672908 | RYR1 | c.1407G>T c.1389G>T c.12997G>T (p.Ala4333Ser) c.12982G>T (p.Ala4328Ser) c.12979G>T (p.Ala4327Ser) c.12964G>T (p.Ala4322Ser) c.12994G>T (p.Ala4332Ser) |