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.38565161_38565222del | CA2584909119 | RYR1 | c.1237_1298del c.1219_1280del c.12827_12888del (p.Glu4276GlyfsTer?) c.12812_12873del (p.Glu4271GlyfsTer?) c.12809_12870del (p.Glu4270GlyfsTer?) c.6196_6257del c.12794_12855del (p.Glu4265GlyfsTer?) c.12824_12885del (p.Glu4275GlyfsTer?) | gnomAD v4 |
| 19 | g.38565212_38565223dup | CA2335084736 | RYR1 | c.1288_1299dup c.1270_1281dup c.12878_12889dup (p.Arg4296_Val4297insAlaThrAlaArg) c.12863_12874dup (p.Arg4291_Val4292insAlaThrAlaArg) c.12860_12871dup (p.Arg4290_Val4291insAlaThrAlaArg) c.6247_6258dup c.12845_12856dup (p.Arg4285_Val4286insAlaThrAlaArg) c.12875_12886dup (p.Arg4295_Val4296insAlaThrAlaArg) | dbSNP gnomAD v4 |
| 19 | g.38565220C>A | CA507355517 | RYR1 | c.1296C>A c.1278C>A c.12886C>A (p.Arg4296=) c.12871C>A (p.Arg4291=) c.12868C>A (p.Arg4290=) c.6255C>A c.12853C>A (p.Arg4285=) c.12883C>A (p.Arg4295=) | gnomAD v4 |
| 19 | g.38565220C= | CA2335084746 | RYR1 | c.1296C= c.1278C= c.12886C= (p.Arg4296=) c.12871C= (p.Arg4291=) c.12868C= (p.Arg4290=) c.6255C= c.12853C= (p.Arg4285=) c.12883C= (p.Arg4295=) | |
| 19 | g.38565220C>G | CA405672449 | RYR1 | c.1296C>G c.1278C>G c.12886C>G (p.Arg4296Gly) c.12871C>G (p.Arg4291Gly) c.12868C>G (p.Arg4290Gly) c.6255C>G c.12853C>G (p.Arg4285Gly) c.12883C>G (p.Arg4295Gly) | gnomAD v4 |
| 19 | g.38565220C>T | CA308109332 | RYR1 | c.1296C>T c.1278C>T c.12886C>T (p.Arg4296Trp) c.12871C>T (p.Arg4291Trp) c.12868C>T (p.Arg4290Trp) c.6255C>T c.12853C>T (p.Arg4285Trp) c.12883C>T (p.Arg4295Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565224_38565244del | CA2580097181 | RYR1 | c.1300_1320del c.1282_1302del c.12890_12910del (p.Val4297_Arg4303del) c.12875_12895del (p.Val4292_Arg4298del) c.12872_12892del (p.Val4291_Arg4297del) c.12857_12877del (p.Val4286_Arg4292del) c.12887_12907del (p.Val4296_Arg4302del) | ClinVar gnomAD v4 |
| 19 | g.38565221G>A | CA405672455 | RYR1 | c.1297G>A c.1279G>A c.12887G>A (p.Arg4296Gln) c.12872G>A (p.Arg4291Gln) c.12869G>A (p.Arg4290Gln) c.6256G>A c.12854G>A (p.Arg4285Gln) c.12884G>A (p.Arg4295Gln) | dbSNP |
| 19 | g.38565221G>C | CA405672454 | RYR1 | c.1297G>C c.1279G>C c.12887G>C (p.Arg4296Pro) c.12872G>C (p.Arg4291Pro) c.12869G>C (p.Arg4290Pro) c.6256G>C c.12854G>C (p.Arg4285Pro) c.12884G>C (p.Arg4295Pro) | ClinVar gnomAD v4 |
| 19 | g.38565221G= | CA2335084747 | RYR1 | c.1297G= c.1279G= c.12887G= (p.Arg4296=) c.12872G= (p.Arg4291=) c.12869G= (p.Arg4290=) c.6256G= c.12854G= (p.Arg4285=) c.12884G= (p.Arg4295=) | |
| 19 | g.38565221G>T | CA405672452 | RYR1 | c.1297G>T c.1279G>T c.12887G>T (p.Arg4296Leu) c.12872G>T (p.Arg4291Leu) c.12869G>T (p.Arg4290Leu) c.6256G>T c.12854G>T (p.Arg4285Leu) c.12884G>T (p.Arg4295Leu) | dbSNP gnomAD v4 |
| 19 | g.38565222G>A | CA507355519 | RYR1 | c.1298G>A c.1280G>A c.12888G>A (p.Arg4296=) c.12873G>A (p.Arg4291=) c.12870G>A (p.Arg4290=) c.6257G>A c.12855G>A (p.Arg4285=) c.12885G>A (p.Arg4295=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38565222G>C | CA10648658 | RYR1 | c.1298G>C c.1280G>C c.12888G>C (p.Arg4296=) c.12873G>C (p.Arg4291=) c.12870G>C (p.Arg4290=) c.6257G>C c.12855G>C (p.Arg4285=) c.12885G>C (p.Arg4295=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565222G= | CA2335084748 | RYR1 | c.1298G= c.1280G= c.12888G= (p.Arg4296=) c.12873G= (p.Arg4291=) c.12870G= (p.Arg4290=) c.6257G= c.12855G= (p.Arg4285=) c.12885G= (p.Arg4295=) | |
| 19 | g.38565222G>T | CA507355522 | RYR1 | c.1298G>T c.1280G>T c.12888G>T (p.Arg4296=) c.12873G>T (p.Arg4291=) c.12870G>T (p.Arg4290=) c.6257G>T c.12855G>T (p.Arg4285=) c.12885G>T (p.Arg4295=) | gnomAD v4 |
| 19 | g.38565223G>A | CA405672458 | RYR1 | c.1299G>A c.1281G>A c.12889G>A (p.Val4297Ile) c.12874G>A (p.Val4292Ile) c.12871G>A (p.Val4291Ile) c.6258G>A c.12856G>A (p.Val4286Ile) c.12886G>A (p.Val4296Ile) | gnomAD v4 |
| 19 | g.38565223G>C | CA405672459 | RYR1 | c.1299G>C c.1281G>C c.12889G>C (p.Val4297Leu) c.12874G>C (p.Val4292Leu) c.12871G>C (p.Val4291Leu) c.6258G>C c.12856G>C (p.Val4286Leu) c.12886G>C (p.Val4296Leu) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38565223G= | CA2335084749 | RYR1 | c.1299G= c.1281G= c.12889G= (p.Val4297=) c.12874G= (p.Val4292=) c.12871G= (p.Val4291=) c.6258G= c.12856G= (p.Val4286=) c.12886G= (p.Val4296=) | |
| 19 | g.38565223G>T | CA405672460 | RYR1 | c.1299G>T c.1281G>T c.12889G>T (p.Val4297Phe) c.12874G>T (p.Val4292Phe) c.12871G>T (p.Val4291Phe) c.6258G>T c.12856G>T (p.Val4286Phe) c.12886G>T (p.Val4296Phe) | |
| 19 | g.38565224T>A | CA405672462 | RYR1 | c.1300T>A c.1282T>A c.12890T>A (p.Val4297Asp) c.12875T>A (p.Val4292Asp) c.12872T>A (p.Val4291Asp) c.6259T>A c.12857T>A (p.Val4286Asp) c.12887T>A (p.Val4296Asp) | |
| 19 | g.38565224T>C | CA405672466 | RYR1 | c.1300T>C c.1282T>C c.12890T>C (p.Val4297Ala) c.12875T>C (p.Val4292Ala) c.12872T>C (p.Val4291Ala) c.6259T>C c.12857T>C (p.Val4286Ala) c.12887T>C (p.Val4296Ala) | gnomAD v4 |
| 19 | g.38565224T>G | CA405672468 | RYR1 | c.1300T>G c.1282T>G c.12890T>G (p.Val4297Gly) c.12875T>G (p.Val4292Gly) c.12872T>G (p.Val4291Gly) c.6259T>G c.12857T>G (p.Val4286Gly) c.12887T>G (p.Val4296Gly) | dbSNP |
| 19 | g.38565225T>A | CA507355524 | RYR1 | c.1301T>A c.1283T>A c.12891T>A (p.Val4297=) c.12876T>A (p.Val4292=) c.12873T>A (p.Val4291=) c.6260T>A c.12858T>A (p.Val4286=) c.12888T>A (p.Val4296=) | |
| 19 | g.38565225T>C | CA507355527 | RYR1 | c.1301T>C c.1283T>C c.12891T>C (p.Val4297=) c.12876T>C (p.Val4292=) c.12873T>C (p.Val4291=) c.6260T>C c.12858T>C (p.Val4286=) c.12888T>C (p.Val4296=) | gnomAD v4 |
| 19 | g.38565225T>G | CA507355529 | RYR1 | c.1301T>G c.1283T>G c.12891T>G (p.Val4297=) c.12876T>G (p.Val4292=) c.12873T>G (p.Val4291=) c.6260T>G c.12858T>G (p.Val4286=) c.12888T>G (p.Val4296=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38565225_38565242del | CA2584909129 | RYR1 | c.1301_1318del c.1283_1300del c.12891_12908del (p.Val4298_Arg4303del) c.12876_12893del (p.Val4293_Arg4298del) c.12873_12890del (p.Val4292_Arg4297del) c.12858_12875del (p.Val4287_Arg4292del) c.12888_12905del (p.Val4297_Arg4302del) | gnomAD v4 |
| 19 | g.38565226G>A | CA405672469 | RYR1 | c.1302G>A c.1284G>A c.12892G>A (p.Val4298Met) c.12877G>A (p.Val4293Met) c.12874G>A (p.Val4292Met) c.6261G>A c.12859G>A (p.Val4287Met) c.12889G>A (p.Val4297Met) | dbSNP |
| 19 | g.38565226G>C | CA405672470 | RYR1 | c.1302G>C c.1284G>C c.12892G>C (p.Val4298Leu) c.12877G>C (p.Val4293Leu) c.12874G>C (p.Val4292Leu) c.6261G>C c.12859G>C (p.Val4287Leu) c.12889G>C (p.Val4297Leu) | |
| 19 | g.38565226G= | CA2335084750 | RYR1 | c.1302G= c.1284G= c.12892G= (p.Val4298=) c.12877G= (p.Val4293=) c.12874G= (p.Val4292=) c.6261G= c.12859G= (p.Val4287=) c.12889G= (p.Val4297=) | |
| 19 | g.38565226G>T | CA405672473 | RYR1 | c.1302G>T c.1284G>T c.12892G>T (p.Val4298Leu) c.12877G>T (p.Val4293Leu) c.12874G>T (p.Val4292Leu) c.6261G>T c.12859G>T (p.Val4287Leu) c.12889G>T (p.Val4297Leu) | ClinVar gnomAD v4 |
| 19 | g.38565227T>A | CA405672474 | RYR1 | c.1303T>A c.1285T>A c.12893T>A (p.Val4298Glu) c.12878T>A (p.Val4293Glu) c.12875T>A (p.Val4292Glu) c.6262T>A c.12860T>A (p.Val4287Glu) c.12890T>A (p.Val4297Glu) | |
| 19 | g.38565227T>C | CA405672476 | RYR1 | c.1303T>C c.1285T>C c.12893T>C (p.Val4298Ala) c.12878T>C (p.Val4293Ala) c.12875T>C (p.Val4292Ala) c.6262T>C c.12860T>C (p.Val4287Ala) c.12890T>C (p.Val4297Ala) | gnomAD v4 |
| 19 | g.38565227T>G | CA405672478 | RYR1 | c.1303T>G c.1285T>G c.12893T>G (p.Val4298Gly) c.12878T>G (p.Val4293Gly) c.12875T>G (p.Val4292Gly) c.6262T>G c.12860T>G (p.Val4287Gly) c.12890T>G (p.Val4297Gly) | |
| 19 | g.38565227dup | CA2335084751 | RYR1 | c.1303dup c.1285dup c.12893dup (p.Ala4299GlyfsTer?) c.12878dup (p.Ala4294GlyfsTer?) c.12875dup (p.Ala4293GlyfsTer?) c.6262dup c.12860dup (p.Ala4288GlyfsTer?) c.12890dup (p.Ala4298GlyfsTer?) | dbSNP |
| 19 | g.38565228G>A | CA507355536 | RYR1 | c.1304G>A c.1286G>A c.12894G>A (p.Val4298=) c.12879G>A (p.Val4293=) c.12876G>A (p.Val4292=) c.6263G>A c.12861G>A (p.Val4287=) c.12891G>A (p.Val4297=) | |
| 19 | g.38565228G>C | CA507355537 | RYR1 | c.1304G>C c.1286G>C c.12894G>C (p.Val4298=) c.12879G>C (p.Val4293=) c.12876G>C (p.Val4292=) c.6263G>C c.12861G>C (p.Val4287=) c.12891G>C (p.Val4297=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565228G= | CA2335084752 | RYR1 | c.1304G= c.1286G= c.12894G= (p.Val4298=) c.12879G= (p.Val4293=) c.12876G= (p.Val4292=) c.6263G= c.12861G= (p.Val4287=) c.12891G= (p.Val4297=) | |
| 19 | g.38565228G>T | CA507355538 | RYR1 | c.1304G>T c.1286G>T c.12894G>T (p.Val4298=) c.12879G>T (p.Val4293=) c.12876G>T (p.Val4292=) c.6263G>T c.12861G>T (p.Val4287=) c.12891G>T (p.Val4297=) | |
| 19 | g.38565229del | CA2584909130 | RYR1 | c.1305del c.1287del c.12895del (p.Ala4299ArgfsTer?) c.12880del (p.Ala4294ArgfsTer?) c.12877del (p.Ala4293ArgfsTer?) c.12862del (p.Ala4288ArgfsTer?) c.12892del (p.Ala4298ArgfsTer?) | gnomAD v4 |
| 19 | g.38565229G>A | CA405672485 | RYR1 | c.1305G>A c.1287G>A c.12895G>A (p.Ala4299Thr) c.12880G>A (p.Ala4294Thr) c.12877G>A (p.Ala4293Thr) c.12862G>A (p.Ala4288Thr) c.12892G>A (p.Ala4298Thr) | |
| 19 | g.38565229G>C | CA405672483 | RYR1 | c.1305G>C c.1287G>C c.12895G>C (p.Ala4299Pro) c.12880G>C (p.Ala4294Pro) c.12877G>C (p.Ala4293Pro) c.12862G>C (p.Ala4288Pro) c.12892G>C (p.Ala4298Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565229G= | CA2335084753 | RYR1 | c.1305G= c.1287G= c.12895G= (p.Ala4299=) c.12880G= (p.Ala4294=) c.12877G= (p.Ala4293=) c.12862G= (p.Ala4288=) c.12892G= (p.Ala4298=) | |
| 19 | g.38565229G>T | CA405672481 | RYR1 | c.1305G>T c.1287G>T c.12895G>T (p.Ala4299Ser) c.12880G>T (p.Ala4294Ser) c.12877G>T (p.Ala4293Ser) c.12862G>T (p.Ala4288Ser) c.12892G>T (p.Ala4298Ser) | gnomAD v4 |
| 19 | g.38565230C>A | CA405672491 | RYR1 | c.1306C>A c.1288C>A c.12896C>A (p.Ala4299Glu) c.12881C>A (p.Ala4294Glu) c.12878C>A (p.Ala4293Glu) c.12863C>A (p.Ala4288Glu) c.12893C>A (p.Ala4298Glu) | gnomAD v4 |
| 19 | g.38565230C= | CA2335084754 | RYR1 | c.1306C= c.1288C= c.12896C= (p.Ala4299=) c.12881C= (p.Ala4294=) c.12878C= (p.Ala4293=) c.12863C= (p.Ala4288=) c.12893C= (p.Ala4298=) | |
| 19 | g.38565230C>G | CA405672487 | RYR1 | c.1306C>G c.1288C>G c.12896C>G (p.Ala4299Gly) c.12881C>G (p.Ala4294Gly) c.12878C>G (p.Ala4293Gly) c.12863C>G (p.Ala4288Gly) c.12893C>G (p.Ala4298Gly) | |
| 19 | g.38565230C>T | CA405672488 | RYR1 | c.1306C>T c.1288C>T c.12896C>T (p.Ala4299Val) c.12881C>T (p.Ala4294Val) c.12878C>T (p.Ala4293Val) c.12863C>T (p.Ala4288Val) c.12893C>T (p.Ala4298Val) | dbSNP gnomAD v4 |
| 19 | g.38565231G>A | CA507355543 | RYR1 | c.1307G>A c.1289G>A c.12897G>A (p.Ala4299=) c.12882G>A (p.Ala4294=) c.12879G>A (p.Ala4293=) c.12864G>A (p.Ala4288=) c.12894G>A (p.Ala4298=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565231G>C | CA507355544 | RYR1 | c.1307G>C c.1289G>C c.12897G>C (p.Ala4299=) c.12882G>C (p.Ala4294=) c.12879G>C (p.Ala4293=) c.12864G>C (p.Ala4288=) c.12894G>C (p.Ala4298=) | |
| 19 | g.38565231G= | CA2335084755 | RYR1 | c.1307G= c.1289G= c.12897G= (p.Ala4299=) c.12882G= (p.Ala4294=) c.12879G= (p.Ala4293=) c.12864G= (p.Ala4288=) c.12894G= (p.Ala4298=) |