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.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.38580422_38580424del | CA915953038 | RYR1 | c.1500_1502del c.2897_2899del c.2869_2871del c.14564_14566del (p.Val4855del) c.14549_14551del (p.Val4850del) c.14546_14548del (p.Val4849del) c.14531_14533del (p.Val4844del) c.14561_14563del (p.Val4854del) c.14477_14479del (p.Val4826del) | ClinVar dbSNP |
| 19 | g.38580421G>A | CA405687706 | RYR1 | c.1499G>A c.2896G>A c.2868G>A c.14563G>A (p.Val4855Met) c.14548G>A (p.Val4850Met) c.14545G>A (p.Val4849Met) c.14530G>A (p.Val4844Met) c.14560G>A (p.Val4854Met) c.14476G>A (p.Val4826Met) | |
| 19 | g.38580421G>C | CA405687707 | RYR1 | c.1499G>C c.2896G>C c.2868G>C c.14563G>C (p.Val4855Leu) c.14548G>C (p.Val4850Leu) c.14545G>C (p.Val4849Leu) c.14530G>C (p.Val4844Leu) c.14560G>C (p.Val4854Leu) c.14476G>C (p.Val4826Leu) | |
| 19 | g.38580421G= | CA2335092468 | RYR1 | c.1499G= c.2896G= c.2868G= c.14563G= (p.Val4855=) c.14548G= (p.Val4850=) c.14545G= (p.Val4849=) c.14530G= (p.Val4844=) c.14560G= (p.Val4854=) c.14476G= (p.Val4826=) | |
| 19 | g.38580421G>T | CA061391 | RYR1 | c.1499G>T c.2896G>T c.2868G>T c.14563G>T (p.Val4855Leu) c.14548G>T (p.Val4850Leu) c.14545G>T (p.Val4849Leu) c.14530G>T (p.Val4844Leu) c.14560G>T (p.Val4854Leu) c.14476G>T (p.Val4826Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580422T>A | CA405687708 | RYR1 | c.1500T>A c.2897T>A c.2869T>A c.14564T>A (p.Val4855Glu) c.14549T>A (p.Val4850Glu) c.14546T>A (p.Val4849Glu) c.14531T>A (p.Val4844Glu) c.14561T>A (p.Val4854Glu) c.14477T>A (p.Val4826Glu) | ClinVar dbSNP |
| 19 | g.38580422T>C | CA405687709 | RYR1 | c.1500T>C c.2897T>C c.2869T>C c.14564T>C (p.Val4855Ala) c.14549T>C (p.Val4850Ala) c.14546T>C (p.Val4849Ala) c.14531T>C (p.Val4844Ala) c.14561T>C (p.Val4854Ala) c.14477T>C (p.Val4826Ala) | |
| 19 | g.38580422T>G | CA405687710 | RYR1 | c.1500T>G c.2897T>G c.2869T>G c.14564T>G (p.Val4855Gly) c.14549T>G (p.Val4850Gly) c.14546T>G (p.Val4849Gly) c.14531T>G (p.Val4844Gly) c.14561T>G (p.Val4854Gly) c.14477T>G (p.Val4826Gly) | |
| 19 | g.38580422T= | CA2335092469 | RYR1 | c.1500T= c.2897T= c.2869T= c.14564T= (p.Val4855=) c.14549T= (p.Val4850=) c.14546T= (p.Val4849=) c.14531T= (p.Val4844=) c.14561T= (p.Val4854=) c.14477T= (p.Val4826=) | |
| 19 | g.38580423G>A | CA507356113 | RYR1 | c.1501G>A c.2898G>A c.2870G>A c.14565G>A (p.Val4855=) c.14550G>A (p.Val4850=) c.14547G>A (p.Val4849=) c.14532G>A (p.Val4844=) c.14562G>A (p.Val4854=) c.14478G>A (p.Val4826=) | |
| 19 | g.38580423G>C | CA507356114 | RYR1 | c.1501G>C c.2898G>C c.2870G>C c.14565G>C (p.Val4855=) c.14550G>C (p.Val4850=) c.14547G>C (p.Val4849=) c.14532G>C (p.Val4844=) c.14562G>C (p.Val4854=) c.14478G>C (p.Val4826=) | |
| 19 | g.38580423G>T | CA507356115 | RYR1 | c.1501G>T c.2898G>T c.2870G>T c.14565G>T (p.Val4855=) c.14550G>T (p.Val4850=) c.14547G>T (p.Val4849=) c.14532G>T (p.Val4844=) c.14562G>T (p.Val4854=) c.14478G>T (p.Val4826=) | |
| 19 | g.38580424G>A | CA405687711 | RYR1 | c.1502G>A c.2899G>A c.2871G>A c.14566G>A (p.Ala4856Thr) c.14551G>A (p.Ala4851Thr) c.14548G>A (p.Ala4850Thr) c.14533G>A (p.Ala4845Thr) c.14563G>A (p.Ala4855Thr) c.14479G>A (p.Ala4827Thr) | ClinVar dbSNP |
| 19 | g.38580424G>C | CA405687712 | RYR1 | c.1502G>C c.2899G>C c.2871G>C c.14566G>C (p.Ala4856Pro) c.14551G>C (p.Ala4851Pro) c.14548G>C (p.Ala4850Pro) c.14533G>C (p.Ala4845Pro) c.14563G>C (p.Ala4855Pro) c.14479G>C (p.Ala4827Pro) | |
| 19 | g.38580424G>T | CA081261 | RYR1 | c.1502G>T c.2899G>T c.2871G>T c.14566G>T (p.Ala4856Ser) c.14551G>T (p.Ala4851Ser) c.14548G>T (p.Ala4850Ser) c.14533G>T (p.Ala4845Ser) c.14563G>T (p.Ala4855Ser) c.14479G>T (p.Ala4827Ser) | |
| 19 | g.38580425C>A | CA405687714 | RYR1 | c.1503C>A c.2900C>A c.2872C>A c.14567C>A (p.Ala4856Asp) c.14552C>A (p.Ala4851Asp) c.14549C>A (p.Ala4850Asp) c.14534C>A (p.Ala4845Asp) c.14564C>A (p.Ala4855Asp) c.14480C>A (p.Ala4827Asp) | |
| 19 | g.38580425C= | CA2335092470 | RYR1 | c.1503C= c.2900C= c.2872C= c.14567C= (p.Ala4856=) c.14552C= (p.Ala4851=) c.14549C= (p.Ala4850=) c.14534C= (p.Ala4845=) c.14564C= (p.Ala4855=) c.14480C= (p.Ala4827=) | |
| 19 | g.38580425C>G | CA024172 | RYR1 | c.1503C>G c.2900C>G c.2872C>G c.14567C>G (p.Ala4856Gly) c.14552C>G (p.Ala4851Gly) c.14549C>G (p.Ala4850Gly) c.14534C>G (p.Ala4845Gly) c.14564C>G (p.Ala4855Gly) c.14480C>G (p.Ala4827Gly) | ClinVar dbSNP |
| 19 | g.38580425C>T | CA405687716 | RYR1 | c.1503C>T c.2900C>T c.2872C>T c.14567C>T (p.Ala4856Val) c.14552C>T (p.Ala4851Val) c.14549C>T (p.Ala4850Val) c.14534C>T (p.Ala4845Val) c.14564C>T (p.Ala4855Val) c.14480C>T (p.Ala4827Val) | |
| 19 | g.38580426C>A | CA507356120 | RYR1 | c.1504C>A c.2901C>A c.2873C>A c.14568C>A (p.Ala4856=) c.14553C>A (p.Ala4851=) c.14550C>A (p.Ala4850=) c.14535C>A (p.Ala4845=) c.14565C>A (p.Ala4855=) c.14481C>A (p.Ala4827=) | |
| 19 | g.38580426C>G | CA507356121 | RYR1 | c.1504C>G c.2901C>G c.2873C>G c.14568C>G (p.Ala4856=) c.14553C>G (p.Ala4851=) c.14550C>G (p.Ala4850=) c.14535C>G (p.Ala4845=) c.14565C>G (p.Ala4855=) c.14481C>G (p.Ala4827=) | |
| 19 | g.38580426C>T | CA507356122 | RYR1 | c.1504C>T c.2901C>T c.2873C>T c.14568C>T (p.Ala4856=) c.14553C>T (p.Ala4851=) c.14550C>T (p.Ala4850=) c.14535C>T (p.Ala4845=) c.14565C>T (p.Ala4855=) c.14481C>T (p.Ala4827=) | |
| 19 | g.38580427T>A | CA405687717 | RYR1 | c.1505T>A c.2902T>A c.2874T>A c.14569T>A (p.Phe4857Ile) c.14554T>A (p.Phe4852Ile) c.14551T>A (p.Phe4851Ile) c.14536T>A (p.Phe4846Ile) c.14566T>A (p.Phe4856Ile) c.14482T>A (p.Phe4828Ile) | |
| 19 | g.38580427T>C | CA405687719 | RYR1 | c.1505T>C c.2902T>C c.2874T>C c.14569T>C (p.Phe4857Leu) c.14554T>C (p.Phe4852Leu) c.14551T>C (p.Phe4851Leu) c.14536T>C (p.Phe4846Leu) c.14566T>C (p.Phe4856Leu) c.14482T>C (p.Phe4828Leu) | ClinVar dbSNP |
| 19 | g.38580427T>G | CA405687721 | RYR1 | c.1505T>G c.2902T>G c.2874T>G c.14569T>G (p.Phe4857Val) c.14554T>G (p.Phe4852Val) c.14551T>G (p.Phe4851Val) c.14536T>G (p.Phe4846Val) c.14566T>G (p.Phe4856Val) c.14482T>G (p.Phe4828Val) | |
| 19 | g.38580428T>A | CA405687728 | RYR1 | c.1506T>A c.2903T>A c.2875T>A c.14570T>A (p.Phe4857Tyr) c.14555T>A (p.Phe4852Tyr) c.14552T>A (p.Phe4851Tyr) c.14537T>A (p.Phe4846Tyr) c.14567T>A (p.Phe4856Tyr) c.14483T>A (p.Phe4828Tyr) | ClinVar dbSNP |
| 19 | g.38580428T>C | CA405687723 | RYR1 | c.1506T>C c.2903T>C c.2875T>C c.14570T>C (p.Phe4857Ser) c.14555T>C (p.Phe4852Ser) c.14552T>C (p.Phe4851Ser) c.14537T>C (p.Phe4846Ser) c.14567T>C (p.Phe4856Ser) c.14483T>C (p.Phe4828Ser) | ClinVar dbSNP |
| 19 | g.38580428T>G | CA405687725 | RYR1 | c.1506T>G c.2903T>G c.2875T>G c.14570T>G (p.Phe4857Cys) c.14555T>G (p.Phe4852Cys) c.14552T>G (p.Phe4851Cys) c.14537T>G (p.Phe4846Cys) c.14567T>G (p.Phe4856Cys) c.14483T>G (p.Phe4828Cys) | ClinVar |
| 19 | g.38580428T= | CA2335092471 | RYR1 | c.1506T= c.2903T= c.2875T= c.14570T= (p.Phe4857=) c.14555T= (p.Phe4852=) c.14552T= (p.Phe4851=) c.14537T= (p.Phe4846=) c.14567T= (p.Phe4856=) c.14483T= (p.Phe4828=) | |
| 19 | g.38580429C>A | CA405687729 | RYR1 | c.1507C>A c.2904C>A c.2876C>A c.14571C>A (p.Phe4857Leu) c.14556C>A (p.Phe4852Leu) c.14553C>A (p.Phe4851Leu) c.14538C>A (p.Phe4846Leu) c.14568C>A (p.Phe4856Leu) c.14484C>A (p.Phe4828Leu) | |
| 19 | g.38580429C>G | CA405687730 | RYR1 | c.1507C>G c.2904C>G c.2876C>G c.14571C>G (p.Phe4857Leu) c.14556C>G (p.Phe4852Leu) c.14553C>G (p.Phe4851Leu) c.14538C>G (p.Phe4846Leu) c.14568C>G (p.Phe4856Leu) c.14484C>G (p.Phe4828Leu) | |
| 19 | g.38580429C>T | CA507356124 | RYR1 | c.1507C>T c.2904C>T c.2876C>T c.14571C>T (p.Phe4857=) c.14556C>T (p.Phe4852=) c.14553C>T (p.Phe4851=) c.14538C>T (p.Phe4846=) c.14568C>T (p.Phe4856=) c.14484C>T (p.Phe4828=) | |
| 19 | g.38580430A= | CA2335092472 | RYR1 | c.1508A= c.2905A= c.2877A= c.14572A= (p.Asn4858=) c.14557A= (p.Asn4853=) c.14554A= (p.Asn4852=) c.14539A= (p.Asn4847=) c.14569A= (p.Asn4857=) c.14485A= (p.Asn4829=) | |
| 19 | g.38580430A>C | CA405687731 | RYR1 | c.1508A>C c.2905A>C c.2877A>C c.14572A>C (p.Asn4858His) c.14557A>C (p.Asn4853His) c.14554A>C (p.Asn4852His) c.14539A>C (p.Asn4847His) c.14569A>C (p.Asn4857His) c.14485A>C (p.Asn4829His) | |
| 19 | g.38580430A>G | CA024174 | RYR1 | c.1508A>G c.2905A>G c.2877A>G c.14572A>G (p.Asn4858Asp) c.14557A>G (p.Asn4853Asp) c.14554A>G (p.Asn4852Asp) c.14539A>G (p.Asn4847Asp) c.14569A>G (p.Asn4857Asp) c.14485A>G (p.Asn4829Asp) | ClinVar dbSNP |
| 19 | g.38580430A>T | CA405687733 | RYR1 | c.1508A>T c.2905A>T c.2877A>T c.14572A>T (p.Asn4858Tyr) c.14557A>T (p.Asn4853Tyr) c.14554A>T (p.Asn4852Tyr) c.14539A>T (p.Asn4847Tyr) c.14569A>T (p.Asn4857Tyr) c.14485A>T (p.Asn4829Tyr) | |
| 19 | g.38580431A= | CA2335092474 | RYR1 | c.1509A= c.2906A= c.2878A= c.14573A= (p.Asn4858=) c.14558A= (p.Asn4853=) c.14555A= (p.Asn4852=) c.14540A= (p.Asn4847=) c.14570A= (p.Asn4857=) c.14486A= (p.Asn4829=) | |
| 19 | g.38580431A>C | CA405687736 | RYR1 | c.1509A>C c.2906A>C c.2878A>C c.14573A>C (p.Asn4858Thr) c.14558A>C (p.Asn4853Thr) c.14555A>C (p.Asn4852Thr) c.14540A>C (p.Asn4847Thr) c.14570A>C (p.Asn4857Thr) c.14486A>C (p.Asn4829Thr) | |
| 19 | g.38580431A>G | CA405687738 | RYR1 | c.1509A>G c.2906A>G c.2878A>G c.14573A>G (p.Asn4858Ser) c.14558A>G (p.Asn4853Ser) c.14555A>G (p.Asn4852Ser) c.14540A>G (p.Asn4847Ser) c.14570A>G (p.Asn4857Ser) c.14486A>G (p.Asn4829Ser) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38580431A>T | CA405687741 | RYR1 | c.1509A>T c.2906A>T c.2878A>T c.14573A>T (p.Asn4858Ile) c.14558A>T (p.Asn4853Ile) c.14555A>T (p.Asn4852Ile) c.14540A>T (p.Asn4847Ile) c.14570A>T (p.Asn4857Ile) c.14486A>T (p.Asn4829Ile) | |
| 19 | g.38580431_38580434delinsACTT | CA2335092473 | RYR1 | c.1509_1512delinsACTT c.2906_2909delinsACTT c.2878_2881delinsACTT c.14573_14576delinsACTT (p.Asn4858=) c.14558_14561delinsACTT (p.Asn4853=) c.14555_14558delinsACTT (p.Asn4852=) c.14540_14543delinsACTT (p.Asn4847=) c.14570_14573delinsACTT (p.Asn4857=) c.14486_14489delinsACTT (p.Asn4829=) | |
| 19 | g.38580432C>A | CA405687744 | RYR1 | c.1510C>A c.2907C>A c.2879C>A c.14574C>A (p.Asn4858Lys) c.14559C>A (p.Asn4853Lys) c.14556C>A (p.Asn4852Lys) c.14541C>A (p.Asn4847Lys) c.14571C>A (p.Asn4857Lys) c.14487C>A (p.Asn4829Lys) | |
| 19 | g.38580432C= | CA2335092475 | RYR1 | c.1510C= c.2907C= c.2879C= c.14574C= (p.Asn4858=) c.14559C= (p.Asn4853=) c.14556C= (p.Asn4852=) c.14541C= (p.Asn4847=) c.14571C= (p.Asn4857=) c.14487C= (p.Asn4829=) | |
| 19 | g.38580432C>G | CA405687747 | RYR1 | c.1510C>G c.2907C>G c.2879C>G c.14574C>G (p.Asn4858Lys) c.14559C>G (p.Asn4853Lys) c.14556C>G (p.Asn4852Lys) c.14541C>G (p.Asn4847Lys) c.14571C>G (p.Asn4857Lys) c.14487C>G (p.Asn4829Lys) | |
| 19 | g.38580432C>T | CA507356126 | RYR1 | c.1510C>T c.2907C>T c.2879C>T c.14574C>T (p.Asn4858=) c.14559C>T (p.Asn4853=) c.14556C>T (p.Asn4852=) c.14541C>T (p.Asn4847=) c.14571C>T (p.Asn4857=) c.14487C>T (p.Asn4829=) | dbSNP |
| 19 | g.38580436_38580438del | CA024177 | RYR1 | c.1514_1516del c.2911_2913del c.2883_2885del c.14578_14580del (p.Phe4860del) c.14563_14565del (p.Phe4855del) c.14560_14562del (p.Phe4854del) c.14545_14547del (p.Phe4849del) c.14575_14577del (p.Phe4859del) c.14491_14493del (p.Phe4831del) | ClinVar dbSNP |
| 19 | g.38580433T>A | CA405687752 | RYR1 | c.1511T>A c.2908T>A c.2880T>A c.14575T>A (p.Phe4859Ile) c.14560T>A (p.Phe4854Ile) c.14557T>A (p.Phe4853Ile) c.14542T>A (p.Phe4848Ile) c.14572T>A (p.Phe4858Ile) c.14488T>A (p.Phe4830Ile) | |
| 19 | g.38580433T>C | CA405687753 | RYR1 | c.1511T>C c.2908T>C c.2880T>C c.14575T>C (p.Phe4859Leu) c.14560T>C (p.Phe4854Leu) c.14557T>C (p.Phe4853Leu) c.14542T>C (p.Phe4848Leu) c.14572T>C (p.Phe4858Leu) c.14488T>C (p.Phe4830Leu) | |
| 19 | g.38580433T>G | CA405687756 | RYR1 | c.1511T>G c.2908T>G c.2880T>G c.14575T>G (p.Phe4859Val) c.14560T>G (p.Phe4854Val) c.14557T>G (p.Phe4853Val) c.14542T>G (p.Phe4848Val) c.14572T>G (p.Phe4858Val) c.14488T>G (p.Phe4830Val) |