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.38543804C>A | CA405662822 | RYR1 | c.351C>A c.333C>A c.11941C>A (p.His3981Asn) c.11926C>A (p.His3976Asn) c.11923C>A (p.His3975Asn) c.550C>A c.5310C>A c.11908C>A (p.His3970Asn) c.11938C>A (p.His3980Asn) | dbSNP |
| 19 | g.38543804C= | CA2335074532 | RYR1 | c.351C= c.333C= c.11941C= (p.His3981=) c.11926C= (p.His3976=) c.11923C= (p.His3975=) c.550C= c.5310C= c.11908C= (p.His3970=) c.11938C= (p.His3980=) | |
| 19 | g.38543804C>G | CA405662825 | RYR1 | c.351C>G c.333C>G c.11941C>G (p.His3981Asp) c.11926C>G (p.His3976Asp) c.11923C>G (p.His3975Asp) c.550C>G c.5310C>G c.11908C>G (p.His3970Asp) c.11938C>G (p.His3980Asp) | |
| 19 | g.38543804C>T | CA023947 | RYR1 | c.351C>T c.333C>T c.11941C>T (p.His3981Tyr) c.11926C>T (p.His3976Tyr) c.11923C>T (p.His3975Tyr) c.550C>T c.5310C>T c.11908C>T (p.His3970Tyr) c.11938C>T (p.His3980Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543805A>C | CA405662827 | RYR1 | c.352A>C c.334A>C c.11942A>C (p.His3981Pro) c.11927A>C (p.His3976Pro) c.11924A>C (p.His3975Pro) c.551A>C c.5311A>C c.11909A>C (p.His3970Pro) c.11939A>C (p.His3980Pro) | |
| 19 | g.38543805A>G | CA405662828 | RYR1 | c.352A>G c.334A>G c.11942A>G (p.His3981Arg) c.11927A>G (p.His3976Arg) c.11924A>G (p.His3975Arg) c.551A>G c.5311A>G c.11909A>G (p.His3970Arg) c.11939A>G (p.His3980Arg) | |
| 19 | g.38543805A>T | CA405662829 | RYR1 | c.352A>T c.334A>T c.11942A>T (p.His3981Leu) c.11927A>T (p.His3976Leu) c.11924A>T (p.His3975Leu) c.551A>T c.5311A>T c.11909A>T (p.His3970Leu) c.11939A>T (p.His3980Leu) | |
| 19 | g.38543806C>A | CA405662830 | RYR1 | c.353C>A c.335C>A c.11943C>A (p.His3981Gln) c.11928C>A (p.His3976Gln) c.11925C>A (p.His3975Gln) c.552C>A c.5312C>A c.11910C>A (p.His3970Gln) c.11940C>A (p.His3980Gln) | |
| 19 | g.38543806C= | CA2335074533 | RYR1 | c.353C= c.335C= c.11943C= (p.His3981=) c.11928C= (p.His3976=) c.11925C= (p.His3975=) c.552C= c.5312C= c.11910C= (p.His3970=) c.11940C= (p.His3980=) | |
| 19 | g.38543806C>G | CA405662831 | RYR1 | c.353C>G c.335C>G c.11943C>G (p.His3981Gln) c.11928C>G (p.His3976Gln) c.11925C>G (p.His3975Gln) c.552C>G c.5312C>G c.11910C>G (p.His3970Gln) c.11940C>G (p.His3980Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38543806C>T | CA507242624 | RYR1 | c.353C>T c.335C>T c.11943C>T (p.His3981=) c.11928C>T (p.His3976=) c.11925C>T (p.His3975=) c.552C>T c.5312C>T c.11910C>T (p.His3970=) c.11940C>T (p.His3980=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38543807A= | CA2335074534 | RYR1 | c.354A= c.336A= c.11944A= (p.Ser3982=) c.11929A= (p.Ser3977=) c.11926A= (p.Ser3976=) c.553A= c.5313A= c.11911A= (p.Ser3971=) c.11941A= (p.Ser3981=) | |
| 19 | g.38543807A>C | CA405662832 | RYR1 | c.354A>C c.336A>C c.11944A>C (p.Ser3982Arg) c.11929A>C (p.Ser3977Arg) c.11926A>C (p.Ser3976Arg) c.553A>C c.5313A>C c.11911A>C (p.Ser3971Arg) c.11941A>C (p.Ser3981Arg) | |
| 19 | g.38543807A>G | CA405662833 | RYR1 | c.354A>G c.336A>G c.11944A>G (p.Ser3982Gly) c.11929A>G (p.Ser3977Gly) c.11926A>G (p.Ser3976Gly) c.553A>G c.5313A>G c.11911A>G (p.Ser3971Gly) c.11941A>G (p.Ser3981Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543807A>T | CA405662834 | RYR1 | c.354A>T c.336A>T c.11944A>T (p.Ser3982Cys) c.11929A>T (p.Ser3977Cys) c.11926A>T (p.Ser3976Cys) c.553A>T c.5313A>T c.11911A>T (p.Ser3971Cys) c.11941A>T (p.Ser3981Cys) | |
| 19 | g.38543808G>A | CA405662837 | RYR1 | c.355G>A c.337G>A c.11945G>A (p.Ser3982Asn) c.11930G>A (p.Ser3977Asn) c.11927G>A (p.Ser3976Asn) c.554G>A c.5314G>A c.11912G>A (p.Ser3971Asn) c.11942G>A (p.Ser3981Asn) | |
| 19 | g.38543808G>C | CA405662836 | RYR1 | c.355G>C c.337G>C c.11945G>C (p.Ser3982Thr) c.11930G>C (p.Ser3977Thr) c.11927G>C (p.Ser3976Thr) c.554G>C c.5314G>C c.11912G>C (p.Ser3971Thr) c.11942G>C (p.Ser3981Thr) | |
| 19 | g.38543808G>T | CA405662835 | RYR1 | c.355G>T c.337G>T c.11945G>T (p.Ser3982Ile) c.11930G>T (p.Ser3977Ile) c.11927G>T (p.Ser3976Ile) c.554G>T c.5314G>T c.11912G>T (p.Ser3971Ile) c.11942G>T (p.Ser3981Ile) | |
| 19 | g.38543809T>A | CA405662838 | RYR1 | c.356T>A c.338T>A c.11946T>A (p.Ser3982Arg) c.11931T>A (p.Ser3977Arg) c.11928T>A (p.Ser3976Arg) c.555T>A c.5315T>A c.11913T>A (p.Ser3971Arg) c.11943T>A (p.Ser3981Arg) | |
| 19 | g.38543809T>C | CA507242626 | RYR1 | c.356T>C c.338T>C c.11946T>C (p.Ser3982=) c.11931T>C (p.Ser3977=) c.11928T>C (p.Ser3976=) c.555T>C c.5315T>C c.11913T>C (p.Ser3971=) c.11943T>C (p.Ser3981=) | |
| 19 | g.38543809T>G | CA405662839 | RYR1 | c.356T>G c.338T>G c.11946T>G (p.Ser3982Arg) c.11931T>G (p.Ser3977Arg) c.11928T>G (p.Ser3976Arg) c.555T>G c.5315T>G c.11913T>G (p.Ser3971Arg) c.11943T>G (p.Ser3981Arg) | |
| 19 | g.38543810C>A | CA405662840 | RYR1 | c.357C>A c.339C>A c.11947C>A (p.Arg3983Ser) c.11932C>A (p.Arg3978Ser) c.11929C>A (p.Arg3977Ser) c.556C>A c.5316C>A c.11914C>A (p.Arg3972Ser) c.11944C>A (p.Arg3982Ser) | |
| 19 | g.38543810C= | CA2335074535 | RYR1 | c.357C= c.339C= c.11947C= (p.Arg3983=) c.11932C= (p.Arg3978=) c.11929C= (p.Arg3977=) c.556C= c.5316C= c.11914C= (p.Arg3972=) c.11944C= (p.Arg3982=) | |
| 19 | g.38543810C>G | CA405662841 | RYR1 | c.357C>G c.339C>G c.11947C>G (p.Arg3983Gly) c.11932C>G (p.Arg3978Gly) c.11929C>G (p.Arg3977Gly) c.556C>G c.5316C>G c.11914C>G (p.Arg3972Gly) c.11944C>G (p.Arg3982Gly) | |
| 19 | g.38543810C>T | CA405662842 | RYR1 | c.357C>T c.339C>T c.11947C>T (p.Arg3983Cys) c.11932C>T (p.Arg3978Cys) c.11929C>T (p.Arg3977Cys) c.556C>T c.5316C>T c.11914C>T (p.Arg3972Cys) c.11944C>T (p.Arg3982Cys) | ClinVar dbSNP COSMIC |
| 19 | g.38543811G>A | CA405662843 | RYR1 | c.358G>A c.340G>A c.11948G>A (p.Arg3983His) c.11933G>A (p.Arg3978His) c.11930G>A (p.Arg3977His) c.557G>A c.5317G>A c.11915G>A (p.Arg3972His) c.11945G>A (p.Arg3982His) | |
| 19 | g.38543811G>C | CA405662844 | RYR1 | c.358G>C c.340G>C c.11948G>C (p.Arg3983Pro) c.11933G>C (p.Arg3978Pro) c.11930G>C (p.Arg3977Pro) c.557G>C c.5317G>C c.11915G>C (p.Arg3972Pro) c.11945G>C (p.Arg3982Pro) | |
| 19 | g.38543811G>T | CA405662845 | RYR1 | c.358G>T c.340G>T c.11948G>T (p.Arg3983Leu) c.11933G>T (p.Arg3978Leu) c.11930G>T (p.Arg3977Leu) c.557G>T c.5317G>T c.11915G>T (p.Arg3972Leu) c.11945G>T (p.Arg3982Leu) | |
| 19 | g.38543812C>A | CA507242628 | RYR1 | c.359C>A c.341C>A c.11949C>A (p.Arg3983=) c.11934C>A (p.Arg3978=) c.11931C>A (p.Arg3977=) c.558C>A c.5318C>A c.11916C>A (p.Arg3972=) c.11946C>A (p.Arg3982=) | gnomAD v4 |
| 19 | g.38543812C>G | CA507242631 | RYR1 | c.359C>G c.341C>G c.11949C>G (p.Arg3983=) c.11934C>G (p.Arg3978=) c.11931C>G (p.Arg3977=) c.558C>G c.5318C>G c.11916C>G (p.Arg3972=) c.11946C>G (p.Arg3982=) | ClinVar |
| 19 | g.38543812C>T | CA507242629 | RYR1 | c.359C>T c.341C>T c.11949C>T (p.Arg3983=) c.11934C>T (p.Arg3978=) c.11931C>T (p.Arg3977=) c.558C>T c.5318C>T c.11916C>T (p.Arg3972=) c.11946C>T (p.Arg3982=) | |
| 19 | g.38543813C>A | CA405662846 | RYR1 | c.360C>A c.342C>A c.11950C>A (p.Leu3984Ile) c.11935C>A (p.Leu3979Ile) c.11932C>A (p.Leu3978Ile) c.559C>A c.5319C>A c.11917C>A (p.Leu3973Ile) c.11947C>A (p.Leu3983Ile) | |
| 19 | g.38543813C= | CA2335074536 | RYR1 | c.360C= c.342C= c.11950C= (p.Leu3984=) c.11935C= (p.Leu3979=) c.11932C= (p.Leu3978=) c.559C= c.5319C= c.11917C= (p.Leu3973=) c.11947C= (p.Leu3983=) | |
| 19 | g.38543813C>G | CA405662847 | RYR1 | c.360C>G c.342C>G c.11950C>G (p.Leu3984Val) c.11935C>G (p.Leu3979Val) c.11932C>G (p.Leu3978Val) c.559C>G c.5319C>G c.11917C>G (p.Leu3973Val) c.11947C>G (p.Leu3983Val) | |
| 19 | g.38543813C>T | CA507242633 | RYR1 | c.360C>T c.342C>T c.11950C>T (p.Leu3984=) c.11935C>T (p.Leu3979=) c.11932C>T (p.Leu3978=) c.559C>T c.5319C>T c.11917C>T (p.Leu3973=) c.11947C>T (p.Leu3983=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38543814T>A | CA405662848 | RYR1 | c.361T>A c.343T>A c.11951T>A (p.Leu3984Gln) c.11936T>A (p.Leu3979Gln) c.11933T>A (p.Leu3978Gln) c.560T>A c.5320T>A c.11918T>A (p.Leu3973Gln) c.11948T>A (p.Leu3983Gln) | |
| 19 | g.38543814T>C | CA405662849 | RYR1 | c.361T>C c.343T>C c.11951T>C (p.Leu3984Pro) c.11936T>C (p.Leu3979Pro) c.11933T>C (p.Leu3978Pro) c.560T>C c.5320T>C c.11918T>C (p.Leu3973Pro) c.11948T>C (p.Leu3983Pro) | |
| 19 | g.38543814T>G | CA405662850 | RYR1 | c.361T>G c.343T>G c.11951T>G (p.Leu3984Arg) c.11936T>G (p.Leu3979Arg) c.11933T>G (p.Leu3978Arg) c.560T>G c.5320T>G c.11918T>G (p.Leu3973Arg) c.11948T>G (p.Leu3983Arg) | |
| 19 | g.38543815A= | CA2335074537 | RYR1 | c.362A= c.344A= c.11952A= (p.Leu3984=) c.11937A= (p.Leu3979=) c.11934A= (p.Leu3978=) c.561A= c.5321A= c.11919A= (p.Leu3973=) c.11949A= (p.Leu3983=) | |
| 19 | g.38543815A>C | CA308092405 | RYR1 | c.362A>C c.344A>C c.11952A>C (p.Leu3984=) c.11937A>C (p.Leu3979=) c.11934A>C (p.Leu3978=) c.561A>C c.5321A>C c.11919A>C (p.Leu3973=) c.11949A>C (p.Leu3983=) | dbSNP |
| 19 | g.38543815A>G | CA057950 | RYR1 | c.362A>G c.344A>G c.11952A>G (p.Leu3984=) c.11937A>G (p.Leu3979=) c.11934A>G (p.Leu3978=) c.561A>G c.5321A>G c.11919A>G (p.Leu3973=) c.11949A>G (p.Leu3983=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38543815A>T | CA507242634 | RYR1 | c.362A>T c.344A>T c.11952A>T (p.Leu3984=) c.11937A>T (p.Leu3979=) c.11934A>T (p.Leu3978=) c.561A>T c.5321A>T c.11919A>T (p.Leu3973=) c.11949A>T (p.Leu3983=) | |
| 19 | g.38543816T>A | CA405662852 | RYR1 | c.363T>A c.345T>A c.11953T>A (p.Trp3985Arg) c.11938T>A (p.Trp3980Arg) c.11935T>A (p.Trp3979Arg) c.562T>A c.5322T>A c.11920T>A (p.Trp3974Arg) c.11950T>A (p.Trp3984Arg) | |
| 19 | g.38543816T>C | CA023949 | RYR1 | c.363T>C c.345T>C c.11953T>C (p.Trp3985Arg) c.11938T>C (p.Trp3980Arg) c.11935T>C (p.Trp3979Arg) c.562T>C c.5322T>C c.11920T>C (p.Trp3974Arg) c.11950T>C (p.Trp3984Arg) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38543816T>G | CA405662851 | RYR1 | c.363T>G c.345T>G c.11953T>G (p.Trp3985Gly) c.11938T>G (p.Trp3980Gly) c.11935T>G (p.Trp3979Gly) c.562T>G c.5322T>G c.11920T>G (p.Trp3974Gly) c.11950T>G (p.Trp3984Gly) | |
| 19 | g.38543816T= | CA2335074538 | RYR1 | c.363T= c.345T= c.11953T= (p.Trp3985=) c.11938T= (p.Trp3980=) c.11935T= (p.Trp3979=) c.562T= c.5322T= c.11920T= (p.Trp3974=) c.11950T= (p.Trp3984=) | |
| 19 | g.38543817G>A | CA405662853 | RYR1 | c.364G>A c.346G>A c.11954G>A (p.Trp3985Ter) c.11939G>A (p.Trp3980Ter) c.11936G>A (p.Trp3979Ter) c.563G>A c.5323G>A c.11921G>A (p.Trp3974Ter) c.11951G>A (p.Trp3984Ter) | gnomAD v4 |
| 19 | g.38543817G>C | CA405662854 | RYR1 | c.364G>C c.346G>C c.11954G>C (p.Trp3985Ser) c.11939G>C (p.Trp3980Ser) c.11936G>C (p.Trp3979Ser) c.563G>C c.5323G>C c.11921G>C (p.Trp3974Ser) c.11951G>C (p.Trp3984Ser) | |
| 19 | g.38543817G>T | CA405662855 | RYR1 | c.364G>T c.346G>T c.11954G>T (p.Trp3985Leu) c.11939G>T (p.Trp3980Leu) c.11936G>T (p.Trp3979Leu) c.563G>T c.5323G>T c.11921G>T (p.Trp3974Leu) c.11951G>T (p.Trp3984Leu) | |
| 19 | g.38543819del | CA2739276752 | RYR1 | c.366del c.348del c.11956del (p.Asp3986ThrfsTer13) c.11941del (p.Asp3981ThrfsTer13) c.11938del (p.Asp3980ThrfsTer13) c.565del c.5325del c.11923del (p.Asp3975ThrfsTer13) c.11953del (p.Asp3985ThrfsTer13) | ClinVar |