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.38729323C>A | CA405706689 | ACTN4 | c.2612C>A (p.Ala871Asp) c.2486C>A (p.Ala829Asp) c.2627C>A (p.Ala876Asp) c.1970C>A (p.Ala657Asp) c.1457C>A (p.Ala486Asp) c.920C>A (p.Ala307Asp) n.446C>A n.380C>A c.286-666C>A c.2693C>A (p.Ala898Asp) | |
| 19 | g.38729323C>G | CA405706691 | ACTN4 | c.2612C>G (p.Ala871Gly) c.2486C>G (p.Ala829Gly) c.2627C>G (p.Ala876Gly) c.1970C>G (p.Ala657Gly) c.1457C>G (p.Ala486Gly) c.920C>G (p.Ala307Gly) n.446C>G n.380C>G c.286-666C>G c.2693C>G (p.Ala898Gly) | |
| 19 | g.38729323C>T | CA405706694 | ACTN4 | c.2612C>T (p.Ala871Val) c.2486C>T (p.Ala829Val) c.2627C>T (p.Ala876Val) c.1970C>T (p.Ala657Val) c.1457C>T (p.Ala486Val) c.920C>T (p.Ala307Val) n.446C>T n.380C>T c.286-666C>T c.2693C>T (p.Ala898Val) | |
| 19 | g.38729324C>A | CA507356536 | ACTN4 | c.2613C>A (p.Ala871=) c.2487C>A (p.Ala829=) c.2628C>A (p.Ala876=) c.1971C>A (p.Ala657=) c.1458C>A (p.Ala486=) c.921C>A (p.Ala307=) n.447C>A n.381C>A c.286-665C>A c.2694C>A (p.Ala898=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38729324C= | CA2335166146 | ACTN4 | c.2613C= (p.Ala871=) c.2487C= (p.Ala829=) c.2628C= (p.Ala876=) c.1971C= (p.Ala657=) c.1458C= (p.Ala486=) c.921C= (p.Ala307=) n.447C= n.381C= c.286-665C= c.2694C= (p.Ala898=) | |
| 19 | g.38729324C>G | CA507356537 | ACTN4 | c.2613C>G (p.Ala871=) c.2487C>G (p.Ala829=) c.2628C>G (p.Ala876=) c.1971C>G (p.Ala657=) c.1458C>G (p.Ala486=) c.921C>G (p.Ala307=) n.447C>G n.381C>G c.286-665C>G c.2694C>G (p.Ala898=) | |
| 19 | g.38729324C>T | CA507356539 | ACTN4 | c.2613C>T (p.Ala871=) c.2487C>T (p.Ala829=) c.2628C>T (p.Ala876=) c.1971C>T (p.Ala657=) c.1458C>T (p.Ala486=) c.921C>T (p.Ala307=) n.447C>T n.381C>T c.286-665C>T c.2694C>T (p.Ala898=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38729325G>A | CA9418121 | ACTN4 | c.2614G>A (p.Glu872Lys) c.2488G>A (p.Glu830Lys) c.2629G>A (p.Glu877Lys) c.1972G>A (p.Glu658Lys) c.1459G>A (p.Glu487Lys) c.922G>A (p.Glu308Lys) n.448G>A n.382G>A c.286-664G>A c.2695G>A (p.Glu899Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38729325G>C | CA405706697 | ACTN4 | c.2614G>C (p.Glu872Gln) c.2488G>C (p.Glu830Gln) c.2629G>C (p.Glu877Gln) c.1972G>C (p.Glu658Gln) c.1459G>C (p.Glu487Gln) c.922G>C (p.Glu308Gln) n.448G>C n.382G>C c.286-664G>C c.2695G>C (p.Glu899Gln) | |
| 19 | g.38729325G= | CA2335166147 | ACTN4 | c.2614G= (p.Glu872=) c.2488G= (p.Glu830=) c.2629G= (p.Glu877=) c.1972G= (p.Glu658=) c.1459G= (p.Glu487=) c.922G= (p.Glu308=) n.448G= n.382G= c.286-664G= c.2695G= (p.Glu899=) | |
| 19 | g.38729325G>T | CA405706699 | ACTN4 | c.2614G>T (p.Glu872Ter) c.2488G>T (p.Glu830Ter) c.2629G>T (p.Glu877Ter) c.1972G>T (p.Glu658Ter) c.1459G>T (p.Glu487Ter) c.922G>T (p.Glu308Ter) n.448G>T n.382G>T c.286-664G>T c.2695G>T (p.Glu899Ter) | |
| 19 | g.38729326A= | CA2335166148 | ACTN4 | c.2615A= (p.Glu872=) c.2489A= (p.Glu830=) c.2630A= (p.Glu877=) c.1973A= (p.Glu658=) c.1460A= (p.Glu487=) c.923A= (p.Glu308=) n.449A= n.383A= c.286-663A= c.2696A= (p.Glu899=) | |
| 19 | g.38729326A>C | CA405706702 | ACTN4 | c.2615A>C (p.Glu872Ala) c.2489A>C (p.Glu830Ala) c.2630A>C (p.Glu877Ala) c.1973A>C (p.Glu658Ala) c.1460A>C (p.Glu487Ala) c.923A>C (p.Glu308Ala) n.449A>C n.383A>C c.286-663A>C c.2696A>C (p.Glu899Ala) | |
| 19 | g.38729326A>G | CA308125755 | ACTN4 | c.2615A>G (p.Glu872Gly) c.2489A>G (p.Glu830Gly) c.2630A>G (p.Glu877Gly) c.1973A>G (p.Glu658Gly) c.1460A>G (p.Glu487Gly) c.923A>G (p.Glu308Gly) n.449A>G n.383A>G c.286-663A>G c.2696A>G (p.Glu899Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38729326A>T | CA405706705 | ACTN4 | c.2615A>T (p.Glu872Val) c.2489A>T (p.Glu830Val) c.2630A>T (p.Glu877Val) c.1973A>T (p.Glu658Val) c.1460A>T (p.Glu487Val) c.923A>T (p.Glu308Val) n.449A>T n.383A>T c.286-663A>T c.2696A>T (p.Glu899Val) | |
| 19 | g.38729327G>A | CA507356541 | ACTN4 | c.2616G>A (p.Glu872=) c.2490G>A (p.Glu830=) c.2631G>A (p.Glu877=) c.1974G>A (p.Glu658=) c.1461G>A (p.Glu487=) c.924G>A (p.Glu308=) n.450G>A n.384G>A c.286-662G>A c.2697G>A (p.Glu899=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38729327G>C | CA405706710 | ACTN4 | c.2616G>C (p.Glu872Asp) c.2490G>C (p.Glu830Asp) c.2631G>C (p.Glu877Asp) c.1974G>C (p.Glu658Asp) c.1461G>C (p.Glu487Asp) c.924G>C (p.Glu308Asp) n.450G>C n.384G>C c.286-662G>C c.2697G>C (p.Glu899Asp) | |
| 19 | g.38729327G= | CA2335166149 | ACTN4 | c.2616G= (p.Glu872=) c.2490G= (p.Glu830=) c.2631G= (p.Glu877=) c.1974G= (p.Glu658=) c.1461G= (p.Glu487=) c.924G= (p.Glu308=) n.450G= n.384G= c.286-662G= c.2697G= (p.Glu899=) | |
| 19 | g.38729327G>T | CA405706708 | ACTN4 | c.2616G>T (p.Glu872Asp) c.2490G>T (p.Glu830Asp) c.2631G>T (p.Glu877Asp) c.1974G>T (p.Glu658Asp) c.1461G>T (p.Glu487Asp) c.924G>T (p.Glu308Asp) n.450G>T n.384G>T c.286-662G>T c.2697G>T (p.Glu899Asp) | gnomAD v4 |
| 19 | g.38729328T>A | CA405706713 | ACTN4 | c.2617T>A (p.Tyr873Asn) c.2491T>A (p.Tyr831Asn) c.2632T>A (p.Tyr878Asn) c.1975T>A (p.Tyr659Asn) c.1462T>A (p.Tyr488Asn) c.925T>A (p.Tyr309Asn) n.451T>A n.385T>A c.286-661T>A c.2698T>A (p.Tyr900Asn) | |
| 19 | g.38729328T>C | CA405706714 | ACTN4 | c.2617T>C (p.Tyr873His) c.2491T>C (p.Tyr831His) c.2632T>C (p.Tyr878His) c.1975T>C (p.Tyr659His) c.1462T>C (p.Tyr488His) c.925T>C (p.Tyr309His) n.451T>C n.385T>C c.286-661T>C c.2698T>C (p.Tyr900His) | |
| 19 | g.38729328T>G | CA405706716 | ACTN4 | c.2617T>G (p.Tyr873Asp) c.2491T>G (p.Tyr831Asp) c.2632T>G (p.Tyr878Asp) c.1975T>G (p.Tyr659Asp) c.1462T>G (p.Tyr488Asp) c.925T>G (p.Tyr309Asp) n.451T>G n.385T>G c.286-661T>G c.2698T>G (p.Tyr900Asp) | |
| 19 | g.38729329A= | CA2335166150 | ACTN4 | c.2618A= (p.Tyr873=) c.2492A= (p.Tyr831=) c.2633A= (p.Tyr878=) c.1976A= (p.Tyr659=) c.1463A= (p.Tyr488=) c.926A= (p.Tyr309=) n.452A= n.386A= c.286-660A= c.2699A= (p.Tyr900=) | |
| 19 | g.38729329A>C | CA405706719 | ACTN4 | c.2618A>C (p.Tyr873Ser) c.2492A>C (p.Tyr831Ser) c.2633A>C (p.Tyr878Ser) c.1976A>C (p.Tyr659Ser) c.1463A>C (p.Tyr488Ser) c.926A>C (p.Tyr309Ser) n.452A>C n.386A>C c.286-660A>C c.2699A>C (p.Tyr900Ser) | |
| 19 | g.38729329A>G | CA405706720 | ACTN4 | c.2618A>G (p.Tyr873Cys) c.2492A>G (p.Tyr831Cys) c.2633A>G (p.Tyr878Cys) c.1976A>G (p.Tyr659Cys) c.1463A>G (p.Tyr488Cys) c.926A>G (p.Tyr309Cys) n.452A>G n.386A>G c.286-660A>G c.2699A>G (p.Tyr900Cys) | dbSNP |
| 19 | g.38729329A>T | CA405706723 | ACTN4 | c.2618A>T (p.Tyr873Phe) c.2492A>T (p.Tyr831Phe) c.2633A>T (p.Tyr878Phe) c.1976A>T (p.Tyr659Phe) c.1463A>T (p.Tyr488Phe) c.926A>T (p.Tyr309Phe) n.452A>T n.386A>T c.286-660A>T c.2699A>T (p.Tyr900Phe) | gnomAD v4 |
| 19 | g.38729330C>A | CA405706726 | ACTN4 | c.2619C>A (p.Tyr873Ter) c.2493C>A (p.Tyr831Ter) c.2634C>A (p.Tyr878Ter) c.1977C>A (p.Tyr659Ter) c.1464C>A (p.Tyr488Ter) c.927C>A (p.Tyr309Ter) n.453C>A n.387C>A c.286-659C>A c.2700C>A (p.Tyr900Ter) | |
| 19 | g.38729330C>G | CA405706729 | ACTN4 | c.2619C>G (p.Tyr873Ter) c.2493C>G (p.Tyr831Ter) c.2634C>G (p.Tyr878Ter) c.1977C>G (p.Tyr659Ter) c.1464C>G (p.Tyr488Ter) c.927C>G (p.Tyr309Ter) n.453C>G n.387C>G c.286-659C>G c.2700C>G (p.Tyr900Ter) | |
| 19 | g.38729330C>T | CA507356542 | ACTN4 | c.2619C>T (p.Tyr873=) c.2493C>T (p.Tyr831=) c.2634C>T (p.Tyr878=) c.1977C>T (p.Tyr659=) c.1464C>T (p.Tyr488=) c.927C>T (p.Tyr309=) n.453C>T n.387C>T c.286-659C>T c.2700C>T (p.Tyr900=) | gnomAD v4 |
| 19 | g.38729331T>A | CA405706732 | ACTN4 | c.2620T>A (p.Cys874Ser) c.2494T>A (p.Cys832Ser) c.2635T>A (p.Cys879Ser) c.1978T>A (p.Cys660Ser) c.1465T>A (p.Cys489Ser) c.928T>A (p.Cys310Ser) n.454T>A n.388T>A c.286-658T>A c.2701T>A (p.Cys901Ser) | |
| 19 | g.38729331T>C | CA405706735 | ACTN4 | c.2620T>C (p.Cys874Arg) c.2494T>C (p.Cys832Arg) c.2635T>C (p.Cys879Arg) c.1978T>C (p.Cys660Arg) c.1465T>C (p.Cys489Arg) c.928T>C (p.Cys310Arg) n.454T>C n.388T>C c.286-658T>C c.2701T>C (p.Cys901Arg) | |
| 19 | g.38729331T>G | CA405706737 | ACTN4 | c.2620T>G (p.Cys874Gly) c.2494T>G (p.Cys832Gly) c.2635T>G (p.Cys879Gly) c.1978T>G (p.Cys660Gly) c.1465T>G (p.Cys489Gly) c.928T>G (p.Cys310Gly) n.454T>G n.388T>G c.286-658T>G c.2701T>G (p.Cys901Gly) | |
| 19 | g.38729332G>A | CA405706741 | ACTN4 | c.2621G>A (p.Cys874Tyr) c.2495G>A (p.Cys832Tyr) c.2636G>A (p.Cys879Tyr) c.1979G>A (p.Cys660Tyr) c.1466G>A (p.Cys489Tyr) c.929G>A (p.Cys310Tyr) n.455G>A n.389G>A c.286-657G>A c.2702G>A (p.Cys901Tyr) | |
| 19 | g.38729332G>C | CA405706744 | ACTN4 | c.2621G>C (p.Cys874Ser) c.2495G>C (p.Cys832Ser) c.2636G>C (p.Cys879Ser) c.1979G>C (p.Cys660Ser) c.1466G>C (p.Cys489Ser) c.929G>C (p.Cys310Ser) n.455G>C n.389G>C c.286-657G>C c.2702G>C (p.Cys901Ser) | |
| 19 | g.38729332G>T | CA405706747 | ACTN4 | c.2621G>T (p.Cys874Phe) c.2495G>T (p.Cys832Phe) c.2636G>T (p.Cys879Phe) c.1979G>T (p.Cys660Phe) c.1466G>T (p.Cys489Phe) c.929G>T (p.Cys310Phe) n.455G>T n.389G>T c.286-657G>T c.2702G>T (p.Cys901Phe) | |
| 19 | g.38729333C>A | CA405706755 | ACTN4 | c.2622C>A (p.Cys874Ter) c.2496C>A (p.Cys832Ter) c.2637C>A (p.Cys879Ter) c.1980C>A (p.Cys660Ter) c.1467C>A (p.Cys489Ter) c.930C>A (p.Cys310Ter) n.456C>A n.390C>A c.286-656C>A c.2703C>A (p.Cys901Ter) | |
| 19 | g.38729333C= | CA2335166151 | ACTN4 | c.2622C= (p.Cys874=) c.2496C= (p.Cys832=) c.2637C= (p.Cys879=) c.1980C= (p.Cys660=) c.1467C= (p.Cys489=) c.930C= (p.Cys310=) n.456C= n.390C= c.286-656C= c.2703C= (p.Cys901=) | |
| 19 | g.38729333C>G | CA405706752 | ACTN4 | c.2622C>G (p.Cys874Trp) c.2496C>G (p.Cys832Trp) c.2637C>G (p.Cys879Trp) c.1980C>G (p.Cys660Trp) c.1467C>G (p.Cys489Trp) c.930C>G (p.Cys310Trp) n.456C>G n.390C>G c.286-656C>G c.2703C>G (p.Cys901Trp) | |
| 19 | g.38729333C>T | CA9418122 | ACTN4 | c.2622C>T (p.Cys874=) c.2496C>T (p.Cys832=) c.2637C>T (p.Cys879=) c.1980C>T (p.Cys660=) c.1467C>T (p.Cys489=) c.930C>T (p.Cys310=) n.456C>T n.390C>T c.286-656C>T c.2703C>T (p.Cys901=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38729334A= | CA2335166152 | ACTN4 | c.2623A= (p.Ile875=) c.2497A= (p.Ile833=) c.2638A= (p.Ile880=) c.1981A= (p.Ile661=) c.1468A= (p.Ile490=) c.931A= (p.Ile311=) n.457A= n.391A= c.286-655A= c.2704A= (p.Ile902=) | |
| 19 | g.38729334A>C | CA405706760 | ACTN4 | c.2623A>C (p.Ile875Leu) c.2497A>C (p.Ile833Leu) c.2638A>C (p.Ile880Leu) c.1981A>C (p.Ile661Leu) c.1468A>C (p.Ile490Leu) c.931A>C (p.Ile311Leu) n.457A>C n.391A>C c.286-655A>C c.2704A>C (p.Ile902Leu) | |
| 19 | g.38729334A>G | CA9418123 | ACTN4 | c.2623A>G (p.Ile875Val) c.2497A>G (p.Ile833Val) c.2638A>G (p.Ile880Val) c.1981A>G (p.Ile661Val) c.1468A>G (p.Ile490Val) c.931A>G (p.Ile311Val) n.457A>G n.391A>G c.286-655A>G c.2704A>G (p.Ile902Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38729334A>T | CA405706765 | ACTN4 | c.2623A>T (p.Ile875Phe) c.2497A>T (p.Ile833Phe) c.2638A>T (p.Ile880Phe) c.1981A>T (p.Ile661Phe) c.1468A>T (p.Ile490Phe) c.931A>T (p.Ile311Phe) n.457A>T n.391A>T c.286-655A>T c.2704A>T (p.Ile902Phe) | |
| 19 | g.38729335T>A | CA405706769 | ACTN4 | c.2624T>A (p.Ile875Asn) c.2498T>A (p.Ile833Asn) c.2639T>A (p.Ile880Asn) c.1982T>A (p.Ile661Asn) c.1469T>A (p.Ile490Asn) c.932T>A (p.Ile311Asn) n.458T>A n.392T>A c.286-654T>A c.2705T>A (p.Ile902Asn) | dbSNP |
| 19 | g.38729335T>C | CA405706773 | ACTN4 | c.2624T>C (p.Ile875Thr) c.2498T>C (p.Ile833Thr) c.2639T>C (p.Ile880Thr) c.1982T>C (p.Ile661Thr) c.1469T>C (p.Ile490Thr) c.932T>C (p.Ile311Thr) n.458T>C n.392T>C c.286-654T>C c.2705T>C (p.Ile902Thr) | |
| 19 | g.38729335T>G | CA405706775 | ACTN4 | c.2624T>G (p.Ile875Ser) c.2498T>G (p.Ile833Ser) c.2639T>G (p.Ile880Ser) c.1982T>G (p.Ile661Ser) c.1469T>G (p.Ile490Ser) c.932T>G (p.Ile311Ser) n.458T>G n.392T>G c.286-654T>G c.2705T>G (p.Ile902Ser) | |
| 19 | g.38729335T= | CA2335166153 | ACTN4 | c.2624T= (p.Ile875=) c.2498T= (p.Ile833=) c.2639T= (p.Ile880=) c.1982T= (p.Ile661=) c.1469T= (p.Ile490=) c.932T= (p.Ile311=) n.458T= n.392T= c.286-654T= c.2705T= (p.Ile902=) | |
| 19 | g.38729336C>A | CA507356550 | ACTN4 | c.2625C>A (p.Ile875=) c.2499C>A (p.Ile833=) c.2640C>A (p.Ile880=) c.1983C>A (p.Ile661=) c.1470C>A (p.Ile490=) c.933C>A (p.Ile311=) n.459C>A n.393C>A c.286-653C>A c.2706C>A (p.Ile902=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38729336C= | CA2335166154 | ACTN4 | c.2625C= (p.Ile875=) c.2499C= (p.Ile833=) c.2640C= (p.Ile880=) c.1983C= (p.Ile661=) c.1470C= (p.Ile490=) c.933C= (p.Ile311=) n.459C= n.393C= c.286-653C= c.2706C= (p.Ile902=) | |
| 19 | g.38729336C>G | CA405706777 | ACTN4 | c.2625C>G (p.Ile875Met) c.2499C>G (p.Ile833Met) c.2640C>G (p.Ile880Met) c.1983C>G (p.Ile661Met) c.1470C>G (p.Ile490Met) c.933C>G (p.Ile311Met) n.459C>G n.393C>G c.286-653C>G c.2706C>G (p.Ile902Met) | dbSNP |