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.38584998_38585012dup | CA2580097258 | RYR1 | c.1638_1652dup c.3035_3049dup c.3007_3021dup n.95_109dup c.14702_14716dup (p.Pro4905_Ala4906insGluIleGluAspPro) c.14687_14701dup (p.Pro4900_Ala4901insGluIleGluAspPro) c.14684_14698dup (p.Pro4899_Ala4900insGluIleGluAspPro) c.14669_14683dup (p.Pro4894_Ala4895insGluIleGluAspPro) c.14699_14713dup (p.Pro4904_Ala4905insGluIleGluAspPro) c.14615_14629dup (p.Pro4876_Ala4877insGluIleGluAspPro) | ClinVar |
| 19 | g.38585001T>A | CA405690386 | RYR1 | c.1641T>A c.3038T>A c.3010T>A n.98T>A c.14705T>A (p.Ile4902Asn) c.14690T>A (p.Ile4897Asn) c.14687T>A (p.Ile4896Asn) c.14672T>A (p.Ile4891Asn) c.14702T>A (p.Ile4901Asn) c.14618T>A (p.Ile4873Asn) | |
| 19 | g.38585001T>C | CA405690387 | RYR1 | c.1641T>C c.3038T>C c.3010T>C n.98T>C c.14705T>C (p.Ile4902Thr) c.14690T>C (p.Ile4897Thr) c.14687T>C (p.Ile4896Thr) c.14672T>C (p.Ile4891Thr) c.14702T>C (p.Ile4901Thr) c.14618T>C (p.Ile4873Thr) | ClinVar dbSNP |
| 19 | g.38585001T>G | CA405690389 | RYR1 | c.1641T>G c.3038T>G c.3010T>G n.98T>G c.14705T>G (p.Ile4902Ser) c.14690T>G (p.Ile4897Ser) c.14687T>G (p.Ile4896Ser) c.14672T>G (p.Ile4891Ser) c.14702T>G (p.Ile4901Ser) c.14618T>G (p.Ile4873Ser) | |
| 19 | g.38585001T= | CA2335094955 | RYR1 | c.1641T= c.3038T= c.3010T= n.98T= c.14705T= (p.Ile4902=) c.14690T= (p.Ile4897=) c.14687T= (p.Ile4896=) c.14672T= (p.Ile4891=) c.14702T= (p.Ile4901=) c.14618T= (p.Ile4873=) | |
| 19 | g.38585002C>A | CA507246358 | RYR1 | c.1642C>A c.3039C>A c.3011C>A n.99C>A c.14706C>A (p.Ile4902=) c.14691C>A (p.Ile4897=) c.14688C>A (p.Ile4896=) c.14673C>A (p.Ile4891=) c.14703C>A (p.Ile4901=) c.14619C>A (p.Ile4873=) | |
| 19 | g.38585002C= | CA2335094956 | RYR1 | c.1642C= c.3039C= c.3011C= n.99C= c.14706C= (p.Ile4902=) c.14691C= (p.Ile4897=) c.14688C= (p.Ile4896=) c.14673C= (p.Ile4891=) c.14703C= (p.Ile4901=) c.14619C= (p.Ile4873=) | |
| 19 | g.38585002C>G | CA405690396 | RYR1 | c.1642C>G c.3039C>G c.3011C>G n.99C>G c.14706C>G (p.Ile4902Met) c.14691C>G (p.Ile4897Met) c.14688C>G (p.Ile4896Met) c.14673C>G (p.Ile4891Met) c.14703C>G (p.Ile4901Met) c.14619C>G (p.Ile4873Met) | |
| 19 | g.38585002C>T | CA10642775 | RYR1 | c.1642C>T c.3039C>T c.3011C>T n.99C>T c.14706C>T (p.Ile4902=) c.14691C>T (p.Ile4897=) c.14688C>T (p.Ile4896=) c.14673C>T (p.Ile4891=) c.14703C>T (p.Ile4901=) c.14619C>T (p.Ile4873=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38585003G>A | CA061534 | RYR1 | c.1643G>A c.3040G>A c.3012G>A n.100G>A c.14707G>A (p.Glu4903Lys) c.14692G>A (p.Glu4898Lys) c.14689G>A (p.Glu4897Lys) c.14674G>A (p.Glu4892Lys) c.14704G>A (p.Glu4902Lys) c.14620G>A (p.Glu4874Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38585003G>C | CA405690409 | RYR1 | c.1643G>C c.3040G>C c.3012G>C n.100G>C c.14707G>C (p.Glu4903Gln) c.14692G>C (p.Glu4898Gln) c.14689G>C (p.Glu4897Gln) c.14674G>C (p.Glu4892Gln) c.14704G>C (p.Glu4902Gln) c.14620G>C (p.Glu4874Gln) | |
| 19 | g.38585003G= | CA2335094957 | RYR1 | c.1643G= c.3040G= c.3012G= n.100G= c.14707G= (p.Glu4903=) c.14692G= (p.Glu4898=) c.14689G= (p.Glu4897=) c.14674G= (p.Glu4892=) c.14704G= (p.Glu4902=) c.14620G= (p.Glu4874=) | |
| 19 | g.38585003G>T | CA405690406 | RYR1 | c.1643G>T c.3040G>T c.3012G>T n.100G>T c.14707G>T (p.Glu4903Ter) c.14692G>T (p.Glu4898Ter) c.14689G>T (p.Glu4897Ter) c.14674G>T (p.Glu4892Ter) c.14704G>T (p.Glu4902Ter) c.14620G>T (p.Glu4874Ter) | |
| 19 | g.38585004A>C | CA405690410 | RYR1 | c.1644A>C c.3041A>C c.3013A>C n.101A>C c.14708A>C (p.Glu4903Ala) c.14693A>C (p.Glu4898Ala) c.14690A>C (p.Glu4897Ala) c.14675A>C (p.Glu4892Ala) c.14705A>C (p.Glu4902Ala) c.14621A>C (p.Glu4874Ala) | |
| 19 | g.38585004A>G | CA405690412 | RYR1 | c.1644A>G c.3041A>G c.3013A>G n.101A>G c.14708A>G (p.Glu4903Gly) c.14693A>G (p.Glu4898Gly) c.14690A>G (p.Glu4897Gly) c.14675A>G (p.Glu4892Gly) c.14705A>G (p.Glu4902Gly) c.14621A>G (p.Glu4874Gly) | |
| 19 | g.38585004A>T | CA405690414 | RYR1 | c.1644A>T c.3041A>T c.3013A>T n.101A>T c.14708A>T (p.Glu4903Val) c.14693A>T (p.Glu4898Val) c.14690A>T (p.Glu4897Val) c.14675A>T (p.Glu4892Val) c.14705A>T (p.Glu4902Val) c.14621A>T (p.Glu4874Val) | |
| 19 | g.38585005G>A | CA507246362 | RYR1 | c.1645G>A c.3042G>A c.3014G>A n.102G>A c.14709G>A (p.Glu4903=) c.14694G>A (p.Glu4898=) c.14691G>A (p.Glu4897=) c.14676G>A (p.Glu4892=) c.14706G>A (p.Glu4902=) c.14622G>A (p.Glu4874=) | |
| 19 | g.38585005G>C | CA061537 | RYR1 | c.1645G>C c.3042G>C c.3014G>C n.102G>C c.14709G>C (p.Glu4903Asp) c.14694G>C (p.Glu4898Asp) c.14691G>C (p.Glu4897Asp) c.14676G>C (p.Glu4892Asp) c.14706G>C (p.Glu4902Asp) c.14622G>C (p.Glu4874Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38585005G= | CA2335094958 | RYR1 | c.1645G= c.3042G= c.3014G= n.102G= c.14709G= (p.Glu4903=) c.14694G= (p.Glu4898=) c.14691G= (p.Glu4897=) c.14676G= (p.Glu4892=) c.14706G= (p.Glu4902=) c.14622G= (p.Glu4874=) | |
| 19 | g.38585005G>T | CA405690422 | RYR1 | c.1645G>T c.3042G>T c.3014G>T n.102G>T c.14709G>T (p.Glu4903Asp) c.14694G>T (p.Glu4898Asp) c.14691G>T (p.Glu4897Asp) c.14676G>T (p.Glu4892Asp) c.14706G>T (p.Glu4902Asp) c.14622G>T (p.Glu4874Asp) | |
| 19 | g.38585006G>A | CA081301 | RYR1 | c.1646G>A c.3043G>A c.3015G>A n.103G>A c.14710G>A (p.Asp4904Asn) c.14695G>A (p.Asp4899Asn) c.14692G>A (p.Asp4898Asn) c.14677G>A (p.Asp4893Asn) c.14707G>A (p.Asp4903Asn) c.14623G>A (p.Asp4875Asn) | |
| 19 | g.38585006G>C | CA405690426 | RYR1 | c.1646G>C c.3043G>C c.3015G>C n.103G>C c.14710G>C (p.Asp4904His) c.14695G>C (p.Asp4899His) c.14692G>C (p.Asp4898His) c.14677G>C (p.Asp4893His) c.14707G>C (p.Asp4903His) c.14623G>C (p.Asp4875His) | |
| 19 | g.38585006G>T | CA405690430 | RYR1 | c.1646G>T c.3043G>T c.3015G>T n.103G>T c.14710G>T (p.Asp4904Tyr) c.14695G>T (p.Asp4899Tyr) c.14692G>T (p.Asp4898Tyr) c.14677G>T (p.Asp4893Tyr) c.14707G>T (p.Asp4903Tyr) c.14623G>T (p.Asp4875Tyr) | |
| 19 | g.38585007A= | CA2335094959 | RYR1 | c.1647A= c.3044A= c.3016A= n.104A= c.14711A= (p.Asp4904=) c.14696A= (p.Asp4899=) c.14693A= (p.Asp4898=) c.14678A= (p.Asp4893=) c.14708A= (p.Asp4903=) c.14624A= (p.Asp4875=) | |
| 19 | g.38585007A>C | CA405690447 | RYR1 | c.1647A>C c.3044A>C c.3016A>C n.104A>C c.14711A>C (p.Asp4904Ala) c.14696A>C (p.Asp4899Ala) c.14693A>C (p.Asp4898Ala) c.14678A>C (p.Asp4893Ala) c.14708A>C (p.Asp4903Ala) c.14624A>C (p.Asp4875Ala) | dbSNP |
| 19 | g.38585007A>G | CA405690448 | RYR1 | c.1647A>G c.3044A>G c.3016A>G n.104A>G c.14711A>G (p.Asp4904Gly) c.14696A>G (p.Asp4899Gly) c.14693A>G (p.Asp4898Gly) c.14678A>G (p.Asp4893Gly) c.14708A>G (p.Asp4903Gly) c.14624A>G (p.Asp4875Gly) | |
| 19 | g.38585007A>T | CA405690451 | RYR1 | c.1647A>T c.3044A>T c.3016A>T n.104A>T c.14711A>T (p.Asp4904Val) c.14696A>T (p.Asp4899Val) c.14693A>T (p.Asp4898Val) c.14678A>T (p.Asp4893Val) c.14708A>T (p.Asp4903Val) c.14624A>T (p.Asp4875Val) | |
| 19 | g.38585008C>A | CA405690454 | RYR1 | c.1648C>A c.3045C>A c.3017C>A n.105C>A c.14712C>A (p.Asp4904Glu) c.14697C>A (p.Asp4899Glu) c.14694C>A (p.Asp4898Glu) c.14679C>A (p.Asp4893Glu) c.14709C>A (p.Asp4903Glu) c.14625C>A (p.Asp4875Glu) | |
| 19 | g.38585008C>G | CA405690464 | RYR1 | c.1648C>G c.3045C>G c.3017C>G n.105C>G c.14712C>G (p.Asp4904Glu) c.14697C>G (p.Asp4899Glu) c.14694C>G (p.Asp4898Glu) c.14679C>G (p.Asp4893Glu) c.14709C>G (p.Asp4903Glu) c.14625C>G (p.Asp4875Glu) | |
| 19 | g.38585008C>T | CA507246366 | RYR1 | c.1648C>T c.3045C>T c.3017C>T n.105C>T c.14712C>T (p.Asp4904=) c.14697C>T (p.Asp4899=) c.14694C>T (p.Asp4898=) c.14679C>T (p.Asp4893=) c.14709C>T (p.Asp4903=) c.14625C>T (p.Asp4875=) | ClinVar |
| 19 | g.38585009C>A | CA16043558 | RYR1 | c.1649C>A c.3046C>A c.3018C>A n.106C>A c.14713C>A (p.Pro4905Thr) c.14698C>A (p.Pro4900Thr) c.14695C>A (p.Pro4899Thr) c.14680C>A (p.Pro4894Thr) c.14710C>A (p.Pro4904Thr) c.14626C>A (p.Pro4876Thr) | ClinVar dbSNP |
| 19 | g.38585009C= | CA2335094960 | RYR1 | c.1649C= c.3046C= c.3018C= n.106C= c.14713C= (p.Pro4905=) c.14698C= (p.Pro4900=) c.14695C= (p.Pro4899=) c.14680C= (p.Pro4894=) c.14710C= (p.Pro4904=) c.14626C= (p.Pro4876=) | |
| 19 | g.38585009C>G | CA405690474 | RYR1 | c.1649C>G c.3046C>G c.3018C>G n.106C>G c.14713C>G (p.Pro4905Ala) c.14698C>G (p.Pro4900Ala) c.14695C>G (p.Pro4899Ala) c.14680C>G (p.Pro4894Ala) c.14710C>G (p.Pro4904Ala) c.14626C>G (p.Pro4876Ala) | |
| 19 | g.38585009C>T | CA405690476 | RYR1 | c.1649C>T c.3046C>T c.3018C>T n.106C>T c.14713C>T (p.Pro4905Ser) c.14698C>T (p.Pro4900Ser) c.14695C>T (p.Pro4899Ser) c.14680C>T (p.Pro4894Ser) c.14710C>T (p.Pro4904Ser) c.14626C>T (p.Pro4876Ser) | ClinVar |
| 19 | g.38585010C>A | CA405690479 | RYR1 | c.1650C>A c.3047C>A c.3019C>A n.107C>A c.14714C>A (p.Pro4905His) c.14699C>A (p.Pro4900His) c.14696C>A (p.Pro4899His) c.14681C>A (p.Pro4894His) c.14711C>A (p.Pro4904His) c.14627C>A (p.Pro4876His) | gnomAD v4 |
| 19 | g.38585010C>G | CA405690481 | RYR1 | c.1650C>G c.3047C>G c.3019C>G n.107C>G c.14714C>G (p.Pro4905Arg) c.14699C>G (p.Pro4900Arg) c.14696C>G (p.Pro4899Arg) c.14681C>G (p.Pro4894Arg) c.14711C>G (p.Pro4904Arg) c.14627C>G (p.Pro4876Arg) | |
| 19 | g.38585010C>T | CA405690486 | RYR1 | c.1650C>T c.3047C>T c.3019C>T n.107C>T c.14714C>T (p.Pro4905Leu) c.14699C>T (p.Pro4900Leu) c.14696C>T (p.Pro4899Leu) c.14681C>T (p.Pro4894Leu) c.14711C>T (p.Pro4904Leu) c.14627C>T (p.Pro4876Leu) | |
| 19 | g.38585011C>A | CA507246368 | RYR1 | c.1651C>A c.3048C>A c.3020C>A n.108C>A c.14715C>A (p.Pro4905=) c.14700C>A (p.Pro4900=) c.14697C>A (p.Pro4899=) c.14682C>A (p.Pro4894=) c.14712C>A (p.Pro4904=) c.14628C>A (p.Pro4876=) | |
| 19 | g.38585011C= | CA2335094961 | RYR1 | c.1651C= c.3048C= c.3020C= n.108C= c.14715C= (p.Pro4905=) c.14700C= (p.Pro4900=) c.14697C= (p.Pro4899=) c.14682C= (p.Pro4894=) c.14712C= (p.Pro4904=) c.14628C= (p.Pro4876=) | |
| 19 | g.38585011C>G | CA507246369 | RYR1 | c.1651C>G c.3048C>G c.3020C>G n.108C>G c.14715C>G (p.Pro4905=) c.14700C>G (p.Pro4900=) c.14697C>G (p.Pro4899=) c.14682C>G (p.Pro4894=) c.14712C>G (p.Pro4904=) c.14628C>G (p.Pro4876=) | |
| 19 | g.38585011C>T | CA507246370 | RYR1 | c.1651C>T c.3048C>T c.3020C>T n.108C>T c.14715C>T (p.Pro4905=) c.14700C>T (p.Pro4900=) c.14697C>T (p.Pro4899=) c.14682C>T (p.Pro4894=) c.14712C>T (p.Pro4904=) c.14628C>T (p.Pro4876=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38585012G>A | CA405690492 | RYR1 | c.1652G>A c.3049G>A c.3021G>A n.109G>A c.14716G>A (p.Ala4906Thr) c.14701G>A (p.Ala4901Thr) c.14698G>A (p.Ala4900Thr) c.14683G>A (p.Ala4895Thr) c.14713G>A (p.Ala4905Thr) c.14629G>A (p.Ala4877Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38585012G>C | CA405690495 | RYR1 | c.1652G>C c.3049G>C c.3021G>C n.109G>C c.14716G>C (p.Ala4906Pro) c.14701G>C (p.Ala4901Pro) c.14698G>C (p.Ala4900Pro) c.14683G>C (p.Ala4895Pro) c.14713G>C (p.Ala4905Pro) c.14629G>C (p.Ala4877Pro) | |
| 19 | g.38585012G= | CA2335094962 | RYR1 | c.1652G= c.3049G= c.3021G= n.109G= c.14716G= (p.Ala4906=) c.14701G= (p.Ala4901=) c.14698G= (p.Ala4900=) c.14683G= (p.Ala4895=) c.14713G= (p.Ala4905=) c.14629G= (p.Ala4877=) | |
| 19 | g.38585012G>T | CA405690499 | RYR1 | c.1652G>T c.3049G>T c.3021G>T n.109G>T c.14716G>T (p.Ala4906Ser) c.14701G>T (p.Ala4901Ser) c.14698G>T (p.Ala4900Ser) c.14683G>T (p.Ala4895Ser) c.14713G>T (p.Ala4905Ser) c.14629G>T (p.Ala4877Ser) | dbSNP |
| 19 | g.38585013C>A | CA405690510 | RYR1 | c.1653C>A c.3050C>A c.3022C>A n.110C>A c.14717C>A (p.Ala4906Glu) c.14702C>A (p.Ala4901Glu) c.14699C>A (p.Ala4900Glu) c.14684C>A (p.Ala4895Glu) c.14714C>A (p.Ala4905Glu) c.14630C>A (p.Ala4877Glu) | |
| 19 | g.38585013C= | CA2335094963 | RYR1 | c.1653C= c.3050C= c.3022C= n.110C= c.14717C= (p.Ala4906=) c.14702C= (p.Ala4901=) c.14699C= (p.Ala4900=) c.14684C= (p.Ala4895=) c.14714C= (p.Ala4905=) c.14630C= (p.Ala4877=) | |
| 19 | g.38585013C>G | CA024239 | RYR1 | c.1653C>G c.3050C>G c.3022C>G n.110C>G c.14717C>G (p.Ala4906Gly) c.14702C>G (p.Ala4901Gly) c.14699C>G (p.Ala4900Gly) c.14684C>G (p.Ala4895Gly) c.14714C>G (p.Ala4905Gly) c.14630C>G (p.Ala4877Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38585013C>T | CA024241 | RYR1 | c.1653C>T c.3050C>T c.3022C>T n.110C>T c.14717C>T (p.Ala4906Val) c.14702C>T (p.Ala4901Val) c.14699C>T (p.Ala4900Val) c.14684C>T (p.Ala4895Val) c.14714C>T (p.Ala4905Val) c.14630C>T (p.Ala4877Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38585014G>A | CA061546 | RYR1 | c.1654G>A c.3051G>A c.3023G>A n.111G>A c.14718G>A (p.Ala4906=) c.14703G>A (p.Ala4901=) c.14700G>A (p.Ala4900=) c.14685G>A (p.Ala4895=) c.14715G>A (p.Ala4905=) c.14631G>A (p.Ala4877=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |