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 |
|---|---|---|---|---|---|
| 1 | g.197093056T>A | CA344006586 | ASPM | n.2577A>T c.9290A>T (p.Lys3097Ile) c.9512A>T (p.Lys3171Ile) c.4535A>T (p.Lys1512Ile) c.2285A>T (p.Lys762Ile) c.3248A>T (p.Lys1083Ile) | |
| 1 | g.197093056T>C | CA344006588 | ASPM | n.2577A>G c.9290A>G (p.Lys3097Arg) c.9512A>G (p.Lys3171Arg) c.4535A>G (p.Lys1512Arg) c.2285A>G (p.Lys762Arg) c.3248A>G (p.Lys1083Arg) | |
| 1 | g.197093056T>G | CA344006589 | ASPM | n.2577A>C c.9290A>C (p.Lys3097Thr) c.9512A>C (p.Lys3171Thr) c.4535A>C (p.Lys1512Thr) c.2285A>C (p.Lys762Thr) c.3248A>C (p.Lys1083Thr) | gnomAD v4 |
| 1 | g.197093057T>A | CA344006592 | ASPM | n.2576A>T c.9289A>T (p.Lys3097Ter) c.9511A>T (p.Lys3171Ter) c.4534A>T (p.Lys1512Ter) c.2284A>T (p.Lys762Ter) c.3247A>T (p.Lys1083Ter) | |
| 1 | g.197093057T>C | CA344006595 | ASPM | n.2576A>G c.9289A>G (p.Lys3097Glu) c.9511A>G (p.Lys3171Glu) c.4534A>G (p.Lys1512Glu) c.2284A>G (p.Lys762Glu) c.3247A>G (p.Lys1083Glu) | |
| 1 | g.197093057T>G | CA344006598 | ASPM | n.2576A>C c.9289A>C (p.Lys3097Gln) c.9511A>C (p.Lys3171Gln) c.4534A>C (p.Lys1512Gln) c.2284A>C (p.Lys762Gln) c.3247A>C (p.Lys1083Gln) | |
| 1 | g.197093058T>A | CA422672720 | ASPM | n.2575A>T c.9288A>T (p.Arg3096=) c.9510A>T (p.Arg3170=) c.4533A>T (p.Arg1511=) c.2283A>T (p.Arg761=) c.3246A>T (p.Arg1082=) | |
| 1 | g.197093058T>C | CA422672722 | ASPM | n.2575A>G c.9288A>G (p.Arg3096=) c.9510A>G (p.Arg3170=) c.4533A>G (p.Arg1511=) c.2283A>G (p.Arg761=) c.3246A>G (p.Arg1082=) | |
| 1 | g.197093058T>G | CA422672723 | ASPM | n.2575A>C c.9288A>C (p.Arg3096=) c.9510A>C (p.Arg3170=) c.4533A>C (p.Arg1511=) c.2283A>C (p.Arg761=) c.3246A>C (p.Arg1082=) | |
| 1 | g.197093059C>A | CA344006606 | ASPM | n.2574G>T c.9287G>T (p.Arg3096Leu) c.9509G>T (p.Arg3170Leu) c.4532G>T (p.Arg1511Leu) c.2282G>T (p.Arg761Leu) c.3245G>T (p.Arg1082Leu) | |
| 1 | g.197093059C= | CA1142116455 | ASPM | n.2574G= c.9287G= (p.Arg3096=) c.9509G= (p.Arg3170=) c.4532G= (p.Arg1511=) c.2282G= (p.Arg761=) c.3245G= (p.Arg1082=) | |
| 1 | g.197093059C>G | CA344006604 | ASPM | n.2574G>C c.9287G>C (p.Arg3096Pro) c.9509G>C (p.Arg3170Pro) c.4532G>C (p.Arg1511Pro) c.2282G>C (p.Arg761Pro) c.3245G>C (p.Arg1082Pro) | |
| 1 | g.197093059C>T | CA1308998 | ASPM | n.2574G>A c.9287G>A (p.Arg3096Gln) c.9509G>A (p.Arg3170Gln) c.4532G>A (p.Arg1511Gln) c.2282G>A (p.Arg761Gln) c.3245G>A (p.Arg1082Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093060G>A | CA344006610 | ASPM | n.2573C>T c.9286C>T (p.Arg3096Ter) c.9508C>T (p.Arg3170Ter) c.4531C>T (p.Arg1511Ter) c.2281C>T (p.Arg761Ter) c.3244C>T (p.Arg1082Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.197093060G>C | CA344006613 | ASPM | n.2573C>G c.9286C>G (p.Arg3096Gly) c.9508C>G (p.Arg3170Gly) c.4531C>G (p.Arg1511Gly) c.2281C>G (p.Arg761Gly) c.3244C>G (p.Arg1082Gly) | |
| 1 | g.197093060G= | CA1217926667 | ASPM | n.2573C= c.9286C= (p.Arg3096=) c.9508C= (p.Arg3170=) c.4531C= (p.Arg1511=) c.2281C= (p.Arg761=) c.3244C= (p.Arg1082=) | |
| 1 | g.197093060G>T | CA1308999 | ASPM | n.2573C>A c.9286C>A (p.Arg3096=) c.9508C>A (p.Arg3170=) c.4531C>A (p.Arg1511=) c.2281C>A (p.Arg761=) c.3244C>A (p.Arg1082=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093061T>A | CA422672732 | ASPM | n.2572A>T c.9285A>T (p.Val3095=) c.9507A>T (p.Val3169=) c.4530A>T (p.Val1510=) c.2280A>T (p.Val760=) c.3243A>T (p.Val1081=) | |
| 1 | g.197093061T>C | CA422672736 | ASPM | n.2572A>G c.9285A>G (p.Val3095=) c.9507A>G (p.Val3169=) c.4530A>G (p.Val1510=) c.2280A>G (p.Val760=) c.3243A>G (p.Val1081=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197093061T>G | CA422672734 | ASPM | n.2572A>C c.9285A>C (p.Val3095=) c.9507A>C (p.Val3169=) c.4530A>C (p.Val1510=) c.2280A>C (p.Val760=) c.3243A>C (p.Val1081=) | |
| 1 | g.197093061T= | CA1217926668 | ASPM | n.2572A= c.9285A= (p.Val3095=) c.9507A= (p.Val3169=) c.4530A= (p.Val1510=) c.2280A= (p.Val760=) c.3243A= (p.Val1081=) | |
| 1 | g.197093062A>C | CA344006622 | ASPM | n.2571T>G c.9284T>G (p.Val3095Gly) c.9506T>G (p.Val3169Gly) c.4529T>G (p.Val1510Gly) c.2279T>G (p.Val760Gly) c.3242T>G (p.Val1081Gly) | |
| 1 | g.197093062A>G | CA344006624 | ASPM | n.2571T>C c.9284T>C (p.Val3095Ala) c.9506T>C (p.Val3169Ala) c.4529T>C (p.Val1510Ala) c.2279T>C (p.Val760Ala) c.3242T>C (p.Val1081Ala) | |
| 1 | g.197093062A>T | CA344006626 | ASPM | n.2571T>A c.9284T>A (p.Val3095Glu) c.9506T>A (p.Val3169Glu) c.4529T>A (p.Val1510Glu) c.2279T>A (p.Val760Glu) c.3242T>A (p.Val1081Glu) | |
| 1 | g.197093063C>A | CA344006630 | ASPM | n.2570G>T c.9283G>T (p.Val3095Leu) c.9505G>T (p.Val3169Leu) c.4528G>T (p.Val1510Leu) c.2278G>T (p.Val760Leu) c.3241G>T (p.Val1081Leu) | gnomAD v4 |
| 1 | g.197093063C= | CA1217926669 | ASPM | n.2570G= c.9283G= (p.Val3095=) c.9505G= (p.Val3169=) c.4528G= (p.Val1510=) c.2278G= (p.Val760=) c.3241G= (p.Val1081=) | |
| 1 | g.197093063C>G | CA344006636 | ASPM | n.2570G>C c.9283G>C (p.Val3095Leu) c.9505G>C (p.Val3169Leu) c.4528G>C (p.Val1510Leu) c.2278G>C (p.Val760Leu) c.3241G>C (p.Val1081Leu) | |
| 1 | g.197093063C>T | CA344006633 | ASPM | n.2570G>A c.9283G>A (p.Val3095Ile) c.9505G>A (p.Val3169Ile) c.4528G>A (p.Val1510Ile) c.2278G>A (p.Val760Ile) c.3241G>A (p.Val1081Ile) | dbSNP |
| 1 | g.197093064T>A | CA422672744 | ASPM | n.2569A>T c.9282A>T (p.Leu3094=) c.9504A>T (p.Leu3168=) c.4527A>T (p.Leu1509=) c.2277A>T (p.Leu759=) c.3240A>T (p.Leu1080=) | gnomAD v4 |
| 1 | g.197093064T>C | CA422672746 | ASPM | n.2569A>G c.9282A>G (p.Leu3094=) c.9504A>G (p.Leu3168=) c.4527A>G (p.Leu1509=) c.2277A>G (p.Leu759=) c.3240A>G (p.Leu1080=) | gnomAD v4 |
| 1 | g.197093064T>G | CA422672748 | ASPM | n.2569A>C c.9282A>C (p.Leu3094=) c.9504A>C (p.Leu3168=) c.4527A>C (p.Leu1509=) c.2277A>C (p.Leu759=) c.3240A>C (p.Leu1080=) | |
| 1 | g.197093065A= | CA1217926670 | ASPM | n.2568T= c.9281T= (p.Leu3094=) c.9503T= (p.Leu3168=) c.4526T= (p.Leu1509=) c.2276T= (p.Leu759=) c.3239T= (p.Leu1080=) | |
| 1 | g.197093065A>C | CA344006640 | ASPM | n.2568T>G c.9281T>G (p.Leu3094Arg) c.9503T>G (p.Leu3168Arg) c.4526T>G (p.Leu1509Arg) c.2276T>G (p.Leu759Arg) c.3239T>G (p.Leu1080Arg) | |
| 1 | g.197093065A>G | CA344006650 | ASPM | n.2568T>C c.9281T>C (p.Leu3094Pro) c.9503T>C (p.Leu3168Pro) c.4526T>C (p.Leu1509Pro) c.2276T>C (p.Leu759Pro) c.3239T>C (p.Leu1080Pro) | |
| 1 | g.197093065A>T | CA344006653 | ASPM | n.2568T>A c.9281T>A (p.Leu3094Gln) c.9503T>A (p.Leu3168Gln) c.4526T>A (p.Leu1509Gln) c.2276T>A (p.Leu759Gln) c.3239T>A (p.Leu1080Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093066G>A | CA422672758 | ASPM | n.2567C>T c.9280C>T (p.Leu3094=) c.9502C>T (p.Leu3168=) c.4525C>T (p.Leu1509=) c.2275C>T (p.Leu759=) c.3238C>T (p.Leu1080=) | |
| 1 | g.197093066G>C | CA344006657 | ASPM | n.2567C>G c.9280C>G (p.Leu3094Val) c.9502C>G (p.Leu3168Val) c.4525C>G (p.Leu1509Val) c.2275C>G (p.Leu759Val) c.3238C>G (p.Leu1080Val) | |
| 1 | g.197093066G>T | CA344006659 | ASPM | n.2567C>A c.9280C>A (p.Leu3094Ile) c.9502C>A (p.Leu3168Ile) c.4525C>A (p.Leu1509Ile) c.2275C>A (p.Leu759Ile) c.3238C>A (p.Leu1080Ile) | |
| 1 | g.197093067C>A | CA344006664 | ASPM | n.2566G>T c.9279G>T (p.Trp3093Cys) c.9501G>T (p.Trp3167Cys) c.4524G>T (p.Trp1508Cys) c.2274G>T (p.Trp758Cys) c.3237G>T (p.Trp1079Cys) | |
| 1 | g.197093067C= | CA1217926671 | ASPM | n.2566G= c.9279G= (p.Trp3093=) c.9501G= (p.Trp3167=) c.4524G= (p.Trp1508=) c.2274G= (p.Trp758=) c.3237G= (p.Trp1079=) | |
| 1 | g.197093067C>G | CA344006667 | ASPM | n.2566G>C c.9279G>C (p.Trp3093Cys) c.9501G>C (p.Trp3167Cys) c.4524G>C (p.Trp1508Cys) c.2274G>C (p.Trp758Cys) c.3237G>C (p.Trp1079Cys) | |
| 1 | g.197093067C>T | CA344006670 | ASPM | n.2566G>A c.9279G>A (p.Trp3093Ter) c.9501G>A (p.Trp3167Ter) c.4524G>A (p.Trp1508Ter) c.2274G>A (p.Trp758Ter) c.3237G>A (p.Trp1079Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197093068C>A | CA344006675 | ASPM | n.2565G>T c.9278G>T (p.Trp3093Leu) c.9500G>T (p.Trp3167Leu) c.4523G>T (p.Trp1508Leu) c.2273G>T (p.Trp758Leu) c.3236G>T (p.Trp1079Leu) | |
| 1 | g.197093068C>G | CA344006685 | ASPM | n.2565G>C c.9278G>C (p.Trp3093Ser) c.9500G>C (p.Trp3167Ser) c.4523G>C (p.Trp1508Ser) c.2273G>C (p.Trp758Ser) c.3236G>C (p.Trp1079Ser) | |
| 1 | g.197093068C>T | CA344006689 | ASPM | n.2565G>A c.9278G>A (p.Trp3093Ter) c.9500G>A (p.Trp3167Ter) c.4523G>A (p.Trp1508Ter) c.2273G>A (p.Trp758Ter) c.3236G>A (p.Trp1079Ter) | |
| 1 | g.197093068_197093069delinsCA | CA1217926672 | ASPM | n.2564_2565delinsTG c.9277_9278delinsTG (p.Trp3093=) c.9499_9500delinsTG (p.Trp3167=) c.4522_4523delinsTG (p.Trp1508=) c.2272_2273delinsTG (p.Trp758=) c.3235_3236delinsTG (p.Trp1079=) | |
| 1 | g.197093069A>C | CA344006693 | ASPM | n.2564T>G c.9277T>G (p.Trp3093Gly) c.9499T>G (p.Trp3167Gly) c.4522T>G (p.Trp1508Gly) c.2272T>G (p.Trp758Gly) c.3235T>G (p.Trp1079Gly) | |
| 1 | g.197093069A>G | CA344006697 | ASPM | n.2564T>C c.9277T>C (p.Trp3093Arg) c.9499T>C (p.Trp3167Arg) c.4522T>C (p.Trp1508Arg) c.2272T>C (p.Trp758Arg) c.3235T>C (p.Trp1079Arg) | |
| 1 | g.197093069A>T | CA344006695 | ASPM | n.2564T>A c.9277T>A (p.Trp3093Arg) c.9499T>A (p.Trp3167Arg) c.4522T>A (p.Trp1508Arg) c.2272T>A (p.Trp758Arg) c.3235T>A (p.Trp1079Arg) | |
| 1 | g.197093070del | CA1217926673 | ASPM | n.2564del c.9277del (p.Trp3093GlyfsTer2) c.9499del (p.Trp3167GlyfsTer2) c.4522del (p.Trp1508GlyfsTer2) c.2272del (p.Trp758GlyfsTer2) c.3235del (p.Trp1079GlyfsTer2) | dbSNP |