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.38580386_38580394del | CA2573156337 | RYR1 | c.1464_1472del c.2861_2869del c.2833_2841del c.14528_14536del (p.Gly4843_Leu4845del) c.14513_14521del (p.Gly4838_Leu4840del) c.14510_14518del (p.Gly4837_Leu4839del) c.14495_14503del (p.Gly4832_Leu4834del) c.14525_14533del (p.Gly4842_Leu4844del) c.14441_14449del (p.Gly4814_Leu4816del) | ClinVar dbSNP |
| 19 | g.38580390T>A | CA507356042 | RYR1 | c.1468T>A c.2865T>A c.2837T>A c.14532T>A (p.Leu4844=) c.14517T>A (p.Leu4839=) c.14514T>A (p.Leu4838=) c.14499T>A (p.Leu4833=) c.14529T>A (p.Leu4843=) c.14445T>A (p.Leu4815=) | |
| 19 | g.38580390T>C | CA507356040 | RYR1 | c.1468T>C c.2865T>C c.2837T>C c.14532T>C (p.Leu4844=) c.14517T>C (p.Leu4839=) c.14514T>C (p.Leu4838=) c.14499T>C (p.Leu4833=) c.14529T>C (p.Leu4843=) c.14445T>C (p.Leu4815=) | |
| 19 | g.38580390T>G | CA507356041 | RYR1 | c.1468T>G c.2865T>G c.2837T>G c.14532T>G (p.Leu4844=) c.14517T>G (p.Leu4839=) c.14514T>G (p.Leu4838=) c.14499T>G (p.Leu4833=) c.14529T>G (p.Leu4843=) c.14445T>G (p.Leu4815=) | |
| 19 | g.38580391C>A | CA405687617 | RYR1 | c.1469C>A c.2866C>A c.2838C>A c.14533C>A (p.Leu4845Met) c.14518C>A (p.Leu4840Met) c.14515C>A (p.Leu4839Met) c.14500C>A (p.Leu4834Met) c.14530C>A (p.Leu4844Met) c.14446C>A (p.Leu4816Met) | ClinVar dbSNP |
| 19 | g.38580391C>G | CA405687619 | RYR1 | c.1469C>G c.2866C>G c.2838C>G c.14533C>G (p.Leu4845Val) c.14518C>G (p.Leu4840Val) c.14515C>G (p.Leu4839Val) c.14500C>G (p.Leu4834Val) c.14530C>G (p.Leu4844Val) c.14446C>G (p.Leu4816Val) | |
| 19 | g.38580391C>T | CA507356047 | RYR1 | c.1469C>T c.2866C>T c.2838C>T c.14533C>T (p.Leu4845=) c.14518C>T (p.Leu4840=) c.14515C>T (p.Leu4839=) c.14500C>T (p.Leu4834=) c.14530C>T (p.Leu4844=) c.14446C>T (p.Leu4816=) | |
| 19 | g.38580392T>A | CA405687621 | RYR1 | c.1470T>A c.2867T>A c.2839T>A c.14534T>A (p.Leu4845Gln) c.14519T>A (p.Leu4840Gln) c.14516T>A (p.Leu4839Gln) c.14501T>A (p.Leu4834Gln) c.14531T>A (p.Leu4844Gln) c.14447T>A (p.Leu4816Gln) | |
| 19 | g.38580392T>C | CA405687623 | RYR1 | c.1470T>C c.2867T>C c.2839T>C c.14534T>C (p.Leu4845Pro) c.14519T>C (p.Leu4840Pro) c.14516T>C (p.Leu4839Pro) c.14501T>C (p.Leu4834Pro) c.14531T>C (p.Leu4844Pro) c.14447T>C (p.Leu4816Pro) | |
| 19 | g.38580392T>G | CA405687624 | RYR1 | c.1470T>G c.2867T>G c.2839T>G c.14534T>G (p.Leu4845Arg) c.14519T>G (p.Leu4840Arg) c.14516T>G (p.Leu4839Arg) c.14501T>G (p.Leu4834Arg) c.14531T>G (p.Leu4844Arg) c.14447T>G (p.Leu4816Arg) | |
| 19 | g.38580393G>A | CA507356048 | RYR1 | c.1471G>A c.2868G>A c.2840G>A c.14535G>A (p.Leu4845=) c.14520G>A (p.Leu4840=) c.14517G>A (p.Leu4839=) c.14502G>A (p.Leu4834=) c.14532G>A (p.Leu4844=) c.14448G>A (p.Leu4816=) | gnomAD v4 |
| 19 | g.38580393G>C | CA308121927 | RYR1 | c.1471G>C c.2868G>C c.2840G>C c.14535G>C (p.Leu4845=) c.14520G>C (p.Leu4840=) c.14517G>C (p.Leu4839=) c.14502G>C (p.Leu4834=) c.14532G>C (p.Leu4844=) c.14448G>C (p.Leu4816=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38580393G= | CA2335092451 | RYR1 | c.1471G= c.2868G= c.2840G= c.14535G= (p.Leu4845=) c.14520G= (p.Leu4840=) c.14517G= (p.Leu4839=) c.14502G= (p.Leu4834=) c.14532G= (p.Leu4844=) c.14448G= (p.Leu4816=) | |
| 19 | g.38580393G>T | CA507356052 | RYR1 | c.1471G>T c.2868G>T c.2840G>T c.14535G>T (p.Leu4845=) c.14520G>T (p.Leu4840=) c.14517G>T (p.Leu4839=) c.14502G>T (p.Leu4834=) c.14532G>T (p.Leu4844=) c.14448G>T (p.Leu4816=) | |
| 19 | g.38580394G>A | CA405687627 | RYR1 | c.1472G>A c.2869G>A c.2841G>A c.14536G>A (p.Ala4846Thr) c.14521G>A (p.Ala4841Thr) c.14518G>A (p.Ala4840Thr) c.14503G>A (p.Ala4835Thr) c.14533G>A (p.Ala4845Thr) c.14449G>A (p.Ala4817Thr) | |
| 19 | g.38580394G>C | CA405687629 | RYR1 | c.1472G>C c.2869G>C c.2841G>C c.14536G>C (p.Ala4846Pro) c.14521G>C (p.Ala4841Pro) c.14518G>C (p.Ala4840Pro) c.14503G>C (p.Ala4835Pro) c.14533G>C (p.Ala4845Pro) c.14449G>C (p.Ala4817Pro) | ClinVar dbSNP |
| 19 | g.38580394G= | CA2335092452 | RYR1 | c.1472G= c.2869G= c.2841G= c.14536G= (p.Ala4846=) c.14521G= (p.Ala4841=) c.14518G= (p.Ala4840=) c.14503G= (p.Ala4835=) c.14533G= (p.Ala4845=) c.14449G= (p.Ala4817=) | |
| 19 | g.38580394G>T | CA405687625 | RYR1 | c.1472G>T c.2869G>T c.2841G>T c.14536G>T (p.Ala4846Ser) c.14521G>T (p.Ala4841Ser) c.14518G>T (p.Ala4840Ser) c.14503G>T (p.Ala4835Ser) c.14533G>T (p.Ala4845Ser) c.14449G>T (p.Ala4817Ser) | |
| 19 | g.38580395C>A | CA405687631 | RYR1 | c.1473C>A c.2870C>A c.2842C>A c.14537C>A (p.Ala4846Glu) c.14522C>A (p.Ala4841Glu) c.14519C>A (p.Ala4840Glu) c.14504C>A (p.Ala4835Glu) c.14534C>A (p.Ala4845Glu) c.14450C>A (p.Ala4817Glu) | |
| 19 | g.38580395C= | CA2335092453 | RYR1 | c.1473C= c.2870C= c.2842C= c.14537C= (p.Ala4846=) c.14522C= (p.Ala4841=) c.14519C= (p.Ala4840=) c.14504C= (p.Ala4835=) c.14534C= (p.Ala4845=) c.14450C= (p.Ala4817=) | |
| 19 | g.38580395C>G | CA061378 | RYR1 | c.1473C>G c.2870C>G c.2842C>G c.14537C>G (p.Ala4846Gly) c.14522C>G (p.Ala4841Gly) c.14519C>G (p.Ala4840Gly) c.14504C>G (p.Ala4835Gly) c.14534C>G (p.Ala4845Gly) c.14450C>G (p.Ala4817Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38580395C>T | CA024167 | RYR1 | c.1473C>T c.2870C>T c.2842C>T c.14537C>T (p.Ala4846Val) c.14522C>T (p.Ala4841Val) c.14519C>T (p.Ala4840Val) c.14504C>T (p.Ala4835Val) c.14534C>T (p.Ala4845Val) c.14450C>T (p.Ala4817Val) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38580395_38580398delinsCGGT | CA2335092454 | RYR1 | c.1473_1476delinsCGGT c.2870_2873delinsCGGT c.2842_2845delinsCGGT c.14537_14540delinsCGGT (p.Ala4846=) c.14522_14525delinsCGGT (p.Ala4841=) c.14519_14522delinsCGGT (p.Ala4840=) c.14504_14507delinsCGGT (p.Ala4835=) c.14534_14537delinsCGGT (p.Ala4845=) c.14450_14453delinsCGGT (p.Ala4817=) | |
| 19 | g.38580396G>A | CA308121949 | RYR1 | c.1474G>A c.2871G>A c.2843G>A c.14538G>A (p.Ala4846=) c.14523G>A (p.Ala4841=) c.14520G>A (p.Ala4840=) c.14505G>A (p.Ala4835=) c.14535G>A (p.Ala4845=) c.14451G>A (p.Ala4817=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38580396G>C | CA061382 | RYR1 | c.1474G>C c.2871G>C c.2843G>C c.14538G>C (p.Ala4846=) c.14523G>C (p.Ala4841=) c.14520G>C (p.Ala4840=) c.14505G>C (p.Ala4835=) c.14535G>C (p.Ala4845=) c.14451G>C (p.Ala4817=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580396G= | CA2335092455 | RYR1 | c.1474G= c.2871G= c.2843G= c.14538G= (p.Ala4846=) c.14523G= (p.Ala4841=) c.14520G= (p.Ala4840=) c.14505G= (p.Ala4835=) c.14535G= (p.Ala4845=) c.14451G= (p.Ala4817=) | |
| 19 | g.38580396G>T | CA507356055 | RYR1 | c.1474G>T c.2871G>T c.2843G>T c.14538G>T (p.Ala4846=) c.14523G>T (p.Ala4841=) c.14520G>T (p.Ala4840=) c.14505G>T (p.Ala4835=) c.14535G>T (p.Ala4845=) c.14451G>T (p.Ala4817=) | |
| 19 | g.38580399_38580401del | CA658799201 | RYR1 | c.1477_1479del c.2874_2876del c.2846_2848del c.14541_14543del (p.Val4848del) c.14526_14528del (p.Val4843del) c.14523_14525del (p.Val4842del) c.14508_14510del (p.Val4837del) c.14538_14540del (p.Val4847del) c.14454_14456del (p.Val4819del) | ClinVar dbSNP |
| 19 | g.38580397G>A | CA405687636 | RYR1 | c.1475G>A c.2872G>A c.2844G>A c.14539G>A (p.Val4847Met) c.14524G>A (p.Val4842Met) c.14521G>A (p.Val4841Met) c.14506G>A (p.Val4836Met) c.14536G>A (p.Val4846Met) c.14452G>A (p.Val4818Met) | |
| 19 | g.38580397G>C | CA405687638 | RYR1 | c.1475G>C c.2872G>C c.2844G>C c.14539G>C (p.Val4847Leu) c.14524G>C (p.Val4842Leu) c.14521G>C (p.Val4841Leu) c.14506G>C (p.Val4836Leu) c.14536G>C (p.Val4846Leu) c.14452G>C (p.Val4818Leu) | ClinVar dbSNP |
| 19 | g.38580397G= | CA2335092456 | RYR1 | c.1475G= c.2872G= c.2844G= c.14539G= (p.Val4847=) c.14524G= (p.Val4842=) c.14521G= (p.Val4841=) c.14506G= (p.Val4836=) c.14536G= (p.Val4846=) c.14452G= (p.Val4818=) | |
| 19 | g.38580397G>T | CA405687639 | RYR1 | c.1475G>T c.2872G>T c.2844G>T c.14539G>T (p.Val4847Leu) c.14524G>T (p.Val4842Leu) c.14521G>T (p.Val4841Leu) c.14506G>T (p.Val4836Leu) c.14536G>T (p.Val4846Leu) c.14452G>T (p.Val4818Leu) | |
| 19 | g.38580398T>A | CA405687641 | RYR1 | c.1476T>A c.2873T>A c.2845T>A c.14540T>A (p.Val4847Glu) c.14525T>A (p.Val4842Glu) c.14522T>A (p.Val4841Glu) c.14507T>A (p.Val4836Glu) c.14537T>A (p.Val4846Glu) c.14453T>A (p.Val4818Glu) | |
| 19 | g.38580398T>C | CA405687644 | RYR1 | c.1476T>C c.2873T>C c.2845T>C c.14540T>C (p.Val4847Ala) c.14525T>C (p.Val4842Ala) c.14522T>C (p.Val4841Ala) c.14507T>C (p.Val4836Ala) c.14537T>C (p.Val4846Ala) c.14453T>C (p.Val4818Ala) | |
| 19 | g.38580398T>G | CA405687646 | RYR1 | c.1476T>G c.2873T>G c.2845T>G c.14540T>G (p.Val4847Gly) c.14525T>G (p.Val4842Gly) c.14522T>G (p.Val4841Gly) c.14507T>G (p.Val4836Gly) c.14537T>G (p.Val4846Gly) c.14453T>G (p.Val4818Gly) | |
| 19 | g.38580399G>A | CA507356063 | RYR1 | c.1477G>A c.2874G>A c.2846G>A c.14541G>A (p.Val4847=) c.14526G>A (p.Val4842=) c.14523G>A (p.Val4841=) c.14508G>A (p.Val4836=) c.14538G>A (p.Val4846=) c.14454G>A (p.Val4818=) | |
| 19 | g.38580399G>C | CA081258 | RYR1 | c.1477G>C c.2874G>C c.2846G>C c.14541G>C (p.Val4847=) c.14526G>C (p.Val4842=) c.14523G>C (p.Val4841=) c.14508G>C (p.Val4836=) c.14538G>C (p.Val4846=) c.14454G>C (p.Val4818=) | |
| 19 | g.38580399G>T | CA507356064 | RYR1 | c.1477G>T c.2874G>T c.2846G>T c.14541G>T (p.Val4847=) c.14526G>T (p.Val4842=) c.14523G>T (p.Val4841=) c.14508G>T (p.Val4836=) c.14538G>T (p.Val4846=) c.14454G>T (p.Val4818=) | |
| 19 | g.38580400G>A | CA405687649 | RYR1 | c.1478G>A c.2875G>A c.2847G>A c.14542G>A (p.Val4848Ile) c.14527G>A (p.Val4843Ile) c.14524G>A (p.Val4842Ile) c.14509G>A (p.Val4837Ile) c.14539G>A (p.Val4847Ile) c.14455G>A (p.Val4819Ile) | |
| 19 | g.38580400G>C | CA405687650 | RYR1 | c.1478G>C c.2875G>C c.2847G>C c.14542G>C (p.Val4848Leu) c.14527G>C (p.Val4843Leu) c.14524G>C (p.Val4842Leu) c.14509G>C (p.Val4837Leu) c.14539G>C (p.Val4847Leu) c.14455G>C (p.Val4819Leu) | ClinVar dbSNP |
| 19 | g.38580400G= | CA2335092457 | RYR1 | c.1478G= c.2875G= c.2847G= c.14542G= (p.Val4848=) c.14527G= (p.Val4843=) c.14524G= (p.Val4842=) c.14509G= (p.Val4837=) c.14539G= (p.Val4847=) c.14455G= (p.Val4819=) | |
| 19 | g.38580400G>T | CA405687651 | RYR1 | c.1478G>T c.2875G>T c.2847G>T c.14542G>T (p.Val4848Phe) c.14527G>T (p.Val4843Phe) c.14524G>T (p.Val4842Phe) c.14509G>T (p.Val4837Phe) c.14539G>T (p.Val4847Phe) c.14455G>T (p.Val4819Phe) | |
| 19 | g.38580401T>A | CA405687655 | RYR1 | c.1479T>A c.2876T>A c.2848T>A c.14543T>A (p.Val4848Asp) c.14528T>A (p.Val4843Asp) c.14525T>A (p.Val4842Asp) c.14510T>A (p.Val4837Asp) c.14540T>A (p.Val4847Asp) c.14456T>A (p.Val4819Asp) | |
| 19 | g.38580401T>C | CA405687653 | RYR1 | c.1479T>C c.2876T>C c.2848T>C c.14543T>C (p.Val4848Ala) c.14528T>C (p.Val4843Ala) c.14525T>C (p.Val4842Ala) c.14510T>C (p.Val4837Ala) c.14540T>C (p.Val4847Ala) c.14456T>C (p.Val4819Ala) | |
| 19 | g.38580401T>G | CA405687654 | RYR1 | c.1479T>G c.2876T>G c.2848T>G c.14543T>G (p.Val4848Gly) c.14528T>G (p.Val4843Gly) c.14525T>G (p.Val4842Gly) c.14510T>G (p.Val4837Gly) c.14540T>G (p.Val4847Gly) c.14456T>G (p.Val4819Gly) | dbSNP |
| 19 | g.38580401T= | CA2335092458 | RYR1 | c.1479T= c.2876T= c.2848T= c.14543T= (p.Val4848=) c.14528T= (p.Val4843=) c.14525T= (p.Val4842=) c.14510T= (p.Val4837=) c.14540T= (p.Val4847=) c.14456T= (p.Val4819=) | |
| 19 | g.38580403_38580429dup | CA891863041 | RYR1 | c.1481_1507dup c.2878_2904dup c.2850_2876dup c.14545_14571dup (p.Phe4857_Asn4858insValTyrLeuTyrThrValValAlaPhe) c.14530_14556dup (p.Phe4852_Asn4853insValTyrLeuTyrThrValValAlaPhe) c.14527_14553dup (p.Phe4851_Asn4852insValTyrLeuTyrThrValValAlaPhe) c.14512_14538dup (p.Phe4846_Asn4847insValTyrLeuTyrThrValValAlaPhe) c.14542_14568dup (p.Phe4856_Asn4857insValTyrLeuTyrThrValValAlaPhe) c.14458_14484dup (p.Phe4828_Asn4829insValTyrLeuTyrThrValValAlaPhe) | ClinVar dbSNP |
| 19 | g.38580402C>A | CA507356069 | RYR1 | c.1480C>A c.2877C>A c.2849C>A c.14544C>A (p.Val4848=) c.14529C>A (p.Val4843=) c.14526C>A (p.Val4842=) c.14511C>A (p.Val4837=) c.14541C>A (p.Val4847=) c.14457C>A (p.Val4819=) | |
| 19 | g.38580402C= | CA2335092459 | RYR1 | c.1480C= c.2877C= c.2849C= c.14544C= (p.Val4848=) c.14529C= (p.Val4843=) c.14526C= (p.Val4842=) c.14511C= (p.Val4837=) c.14541C= (p.Val4847=) c.14457C= (p.Val4819=) | |
| 19 | g.38580402C>G | CA507356070 | RYR1 | c.1480C>G c.2877C>G c.2849C>G c.14544C>G (p.Val4848=) c.14529C>G (p.Val4843=) c.14526C>G (p.Val4842=) c.14511C>G (p.Val4837=) c.14541C>G (p.Val4847=) c.14457C>G (p.Val4819=) | dbSNP |