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.197090961T>A | CA344003022 | ASPM | n.2812A>T c.9525A>T (p.Gln3175His) c.9747A>T (p.Gln3249His) c.9501A>T (p.Gln3167His) c.4770A>T (p.Gln1590His) c.2520A>T (p.Gln840His) c.3483A>T (p.Gln1161His) | |
| 1 | g.197090961T>C | CA422672461 | ASPM | n.2812A>G c.9525A>G (p.Gln3175=) c.9747A>G (p.Gln3249=) c.9501A>G (p.Gln3167=) c.4770A>G (p.Gln1590=) c.2520A>G (p.Gln840=) c.3483A>G (p.Gln1161=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090961T>G | CA344003026 | ASPM | n.2812A>C c.9525A>C (p.Gln3175His) c.9747A>C (p.Gln3249His) c.9501A>C (p.Gln3167His) c.4770A>C (p.Gln1590His) c.2520A>C (p.Gln840His) c.3483A>C (p.Gln1161His) | |
| 1 | g.197090961T= | CA1217925824 | ASPM | n.2812A= c.9525A= (p.Gln3175=) c.9747A= (p.Gln3249=) c.9501A= (p.Gln3167=) c.4770A= (p.Gln1590=) c.2520A= (p.Gln840=) c.3483A= (p.Gln1161=) | |
| 1 | g.197090962T>A | CA344003027 | ASPM | n.2811A>T c.9524A>T (p.Gln3175Leu) c.9746A>T (p.Gln3249Leu) c.9500A>T (p.Gln3167Leu) c.4769A>T (p.Gln1590Leu) c.2519A>T (p.Gln840Leu) c.3482A>T (p.Gln1161Leu) | gnomAD v4 |
| 1 | g.197090962T>C | CA344003028 | ASPM | n.2811A>G c.9524A>G (p.Gln3175Arg) c.9746A>G (p.Gln3249Arg) c.9500A>G (p.Gln3167Arg) c.4769A>G (p.Gln1590Arg) c.2519A>G (p.Gln840Arg) c.3482A>G (p.Gln1161Arg) | |
| 1 | g.197090962T>G | CA344003033 | ASPM | n.2811A>C c.9524A>C (p.Gln3175Pro) c.9746A>C (p.Gln3249Pro) c.9500A>C (p.Gln3167Pro) c.4769A>C (p.Gln1590Pro) c.2519A>C (p.Gln840Pro) c.3482A>C (p.Gln1161Pro) | |
| 1 | g.197090963G>A | CA344003037 | ASPM | n.2810C>T c.9523C>T (p.Gln3175Ter) c.9745C>T (p.Gln3249Ter) c.9499C>T (p.Gln3167Ter) c.4768C>T (p.Gln1590Ter) c.2518C>T (p.Gln840Ter) c.3481C>T (p.Gln1161Ter) | |
| 1 | g.197090963G>C | CA344003046 | ASPM | n.2810C>G c.9523C>G (p.Gln3175Glu) c.9745C>G (p.Gln3249Glu) c.9499C>G (p.Gln3167Glu) c.4768C>G (p.Gln1590Glu) c.2518C>G (p.Gln840Glu) c.3481C>G (p.Gln1161Glu) | dbSNP |
| 1 | g.197090963G= | CA1217925827 | ASPM | n.2810C= c.9523C= (p.Gln3175=) c.9745C= (p.Gln3249=) c.9499C= (p.Gln3167=) c.4768C= (p.Gln1590=) c.2518C= (p.Gln840=) c.3481C= (p.Gln1161=) | |
| 1 | g.197090963G>T | CA344003049 | ASPM | n.2810C>A c.9523C>A (p.Gln3175Lys) c.9745C>A (p.Gln3249Lys) c.9499C>A (p.Gln3167Lys) c.4768C>A (p.Gln1590Lys) c.2518C>A (p.Gln840Lys) c.3481C>A (p.Gln1161Lys) | |
| 1 | g.197090964A>C | CA422672462 | ASPM | n.2809T>G c.9522T>G (p.Gly3174=) c.9744T>G (p.Gly3248=) c.9498T>G (p.Gly3166=) c.4767T>G (p.Gly1589=) c.2517T>G (p.Gly839=) c.3480T>G (p.Gly1160=) | |
| 1 | g.197090964A>G | CA422672464 | ASPM | n.2809T>C c.9522T>C (p.Gly3174=) c.9744T>C (p.Gly3248=) c.9498T>C (p.Gly3166=) c.4767T>C (p.Gly1589=) c.2517T>C (p.Gly839=) c.3480T>C (p.Gly1160=) | gnomAD v4 |
| 1 | g.197090964A>T | CA422672463 | ASPM | n.2809T>A c.9522T>A (p.Gly3174=) c.9744T>A (p.Gly3248=) c.9498T>A (p.Gly3166=) c.4767T>A (p.Gly1589=) c.2517T>A (p.Gly839=) c.3480T>A (p.Gly1160=) | |
| 1 | g.197090965C>A | CA344003054 | ASPM | n.2808G>T c.9521G>T (p.Gly3174Val) c.9743G>T (p.Gly3248Val) c.9497G>T (p.Gly3166Val) c.4766G>T (p.Gly1589Val) c.2516G>T (p.Gly839Val) c.3479G>T (p.Gly1160Val) | dbSNP |
| 1 | g.197090965C= | CA1148349526 | ASPM | n.2808G= c.9521G= (p.Gly3174=) c.9743G= (p.Gly3248=) c.9497G= (p.Gly3166=) c.4766G= (p.Gly1589=) c.2516G= (p.Gly839=) c.3479G= (p.Gly1160=) | |
| 1 | g.197090965C>G | CA344003057 | ASPM | n.2808G>C c.9521G>C (p.Gly3174Ala) c.9743G>C (p.Gly3248Ala) c.9497G>C (p.Gly3166Ala) c.4766G>C (p.Gly1589Ala) c.2516G>C (p.Gly839Ala) c.3479G>C (p.Gly1160Ala) | |
| 1 | g.197090965C>T | CA1308932 | ASPM | n.2808G>A c.9521G>A (p.Gly3174Asp) c.9743G>A (p.Gly3248Asp) c.9497G>A (p.Gly3166Asp) c.4766G>A (p.Gly1589Asp) c.2516G>A (p.Gly839Asp) c.3479G>A (p.Gly1160Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090966C>A | CA344003063 | ASPM | n.2807G>T c.9520G>T (p.Gly3174Cys) c.9742G>T (p.Gly3248Cys) c.9496G>T (p.Gly3166Cys) c.4765G>T (p.Gly1589Cys) c.2515G>T (p.Gly839Cys) c.3478G>T (p.Gly1160Cys) | |
| 1 | g.197090966C= | CA1217925834 | ASPM | n.2807G= c.9520G= (p.Gly3174=) c.9742G= (p.Gly3248=) c.9496G= (p.Gly3166=) c.4765G= (p.Gly1589=) c.2515G= (p.Gly839=) c.3478G= (p.Gly1160=) | |
| 1 | g.197090966C>G | CA344003065 | ASPM | n.2807G>C c.9520G>C (p.Gly3174Arg) c.9742G>C (p.Gly3248Arg) c.9496G>C (p.Gly3166Arg) c.4765G>C (p.Gly1589Arg) c.2515G>C (p.Gly839Arg) c.3478G>C (p.Gly1160Arg) | |
| 1 | g.197090966C>T | CA344003068 | ASPM | n.2807G>A c.9520G>A (p.Gly3174Ser) c.9742G>A (p.Gly3248Ser) c.9496G>A (p.Gly3166Ser) c.4765G>A (p.Gly1589Ser) c.2515G>A (p.Gly839Ser) c.3478G>A (p.Gly1160Ser) | dbSNP gnomAD v4 |
| 1 | g.197090967T>A | CA344003076 | ASPM | n.2806A>T c.9519A>T (p.Glu3173Asp) c.9741A>T (p.Glu3247Asp) c.9495A>T (p.Glu3165Asp) c.4764A>T (p.Glu1588Asp) c.2514A>T (p.Glu838Asp) c.3477A>T (p.Glu1159Asp) | |
| 1 | g.197090967T>C | CA422672465 | ASPM | n.2806A>G c.9519A>G (p.Glu3173=) c.9741A>G (p.Glu3247=) c.9495A>G (p.Glu3165=) c.4764A>G (p.Glu1588=) c.2514A>G (p.Glu838=) c.3477A>G (p.Glu1159=) | |
| 1 | g.197090967T>G | CA344003072 | ASPM | n.2806A>C c.9519A>C (p.Glu3173Asp) c.9741A>C (p.Glu3247Asp) c.9495A>C (p.Glu3165Asp) c.4764A>C (p.Glu1588Asp) c.2514A>C (p.Glu838Asp) c.3477A>C (p.Glu1159Asp) | |
| 1 | g.197090968T>A | CA344003080 | ASPM | n.2805A>T c.9518A>T (p.Glu3173Val) c.9740A>T (p.Glu3247Val) c.9494A>T (p.Glu3165Val) c.4763A>T (p.Glu1588Val) c.2513A>T (p.Glu838Val) c.3476A>T (p.Glu1159Val) | |
| 1 | g.197090968T>C | CA344003083 | ASPM | n.2805A>G c.9518A>G (p.Glu3173Gly) c.9740A>G (p.Glu3247Gly) c.9494A>G (p.Glu3165Gly) c.4763A>G (p.Glu1588Gly) c.2513A>G (p.Glu838Gly) c.3476A>G (p.Glu1159Gly) | |
| 1 | g.197090968T>G | CA344003095 | ASPM | n.2805A>C c.9518A>C (p.Glu3173Ala) c.9740A>C (p.Glu3247Ala) c.9494A>C (p.Glu3165Ala) c.4763A>C (p.Glu1588Ala) c.2513A>C (p.Glu838Ala) c.3476A>C (p.Glu1159Ala) | |
| 1 | g.197090969C>A | CA344003099 | ASPM | n.2804G>T c.9517G>T (p.Glu3173Ter) c.9739G>T (p.Glu3247Ter) c.9493G>T (p.Glu3165Ter) c.4762G>T (p.Glu1588Ter) c.2512G>T (p.Glu838Ter) c.3475G>T (p.Glu1159Ter) | |
| 1 | g.197090969C>G | CA344003102 | ASPM | n.2804G>C c.9517G>C (p.Glu3173Gln) c.9739G>C (p.Glu3247Gln) c.9493G>C (p.Glu3165Gln) c.4762G>C (p.Glu1588Gln) c.2512G>C (p.Glu838Gln) c.3475G>C (p.Glu1159Gln) | |
| 1 | g.197090969C>T | CA344003105 | ASPM | n.2804G>A c.9517G>A (p.Glu3173Lys) c.9739G>A (p.Glu3247Lys) c.9493G>A (p.Glu3165Lys) c.4762G>A (p.Glu1588Lys) c.2512G>A (p.Glu838Lys) c.3475G>A (p.Glu1159Lys) | |
| 1 | g.197090970A>C | CA344003106 | ASPM | n.2803T>G c.9516T>G (p.His3172Gln) c.9738T>G (p.His3246Gln) c.9492T>G (p.His3164Gln) c.4761T>G (p.His1587Gln) c.2511T>G (p.His837Gln) c.3474T>G (p.His1158Gln) | |
| 1 | g.197090970A>G | CA422672466 | ASPM | n.2803T>C c.9516T>C (p.His3172=) c.9738T>C (p.His3246=) c.9492T>C (p.His3164=) c.4761T>C (p.His1587=) c.2511T>C (p.His837=) c.3474T>C (p.His1158=) | |
| 1 | g.197090970A>T | CA344003107 | ASPM | n.2803T>A c.9516T>A (p.His3172Gln) c.9738T>A (p.His3246Gln) c.9492T>A (p.His3164Gln) c.4761T>A (p.His1587Gln) c.2511T>A (p.His837Gln) c.3474T>A (p.His1158Gln) | |
| 1 | g.197090971T>A | CA344003111 | ASPM | n.2802A>T c.9515A>T (p.His3172Leu) c.9737A>T (p.His3246Leu) c.9491A>T (p.His3164Leu) c.4760A>T (p.His1587Leu) c.2510A>T (p.His837Leu) c.3473A>T (p.His1158Leu) | gnomAD v4 |
| 1 | g.197090971T>C | CA344003113 | ASPM | n.2802A>G c.9515A>G (p.His3172Arg) c.9737A>G (p.His3246Arg) c.9491A>G (p.His3164Arg) c.4760A>G (p.His1587Arg) c.2510A>G (p.His837Arg) c.3473A>G (p.His1158Arg) | gnomAD v4 |
| 1 | g.197090971T>G | CA344003129 | ASPM | n.2802A>C c.9515A>C (p.His3172Pro) c.9737A>C (p.His3246Pro) c.9491A>C (p.His3164Pro) c.4760A>C (p.His1587Pro) c.2510A>C (p.His837Pro) c.3473A>C (p.His1158Pro) | |
| 1 | g.197090972G>A | CA344003133 | ASPM | n.2801C>T c.9514C>T (p.His3172Tyr) c.9736C>T (p.His3246Tyr) c.9490C>T (p.His3164Tyr) c.4759C>T (p.His1587Tyr) c.2509C>T (p.His837Tyr) c.3472C>T (p.His1158Tyr) | |
| 1 | g.197090972G>C | CA344003139 | ASPM | n.2801C>G c.9514C>G (p.His3172Asp) c.9736C>G (p.His3246Asp) c.9490C>G (p.His3164Asp) c.4759C>G (p.His1587Asp) c.2509C>G (p.His837Asp) c.3472C>G (p.His1158Asp) | |
| 1 | g.197090972G>T | CA344003142 | ASPM | n.2801C>A c.9514C>A (p.His3172Asn) c.9736C>A (p.His3246Asn) c.9490C>A (p.His3164Asn) c.4759C>A (p.His1587Asn) c.2509C>A (p.His837Asn) c.3472C>A (p.His1158Asn) | gnomAD v4 |
| 1 | g.197090973C>A | CA344003152 | ASPM | n.2800G>T c.9513G>T (p.Glu3171Asp) c.9735G>T (p.Glu3245Asp) c.9489G>T (p.Glu3163Asp) c.4758G>T (p.Glu1586Asp) c.2508G>T (p.Glu836Asp) c.3471G>T (p.Glu1157Asp) | |
| 1 | g.197090973C= | CA1217925837 | ASPM | n.2800G= c.9513G= (p.Glu3171=) c.9735G= (p.Glu3245=) c.9489G= (p.Glu3163=) c.4758G= (p.Glu1586=) c.2508G= (p.Glu836=) c.3471G= (p.Glu1157=) | |
| 1 | g.197090973C>G | CA344003154 | ASPM | n.2800G>C c.9513G>C (p.Glu3171Asp) c.9735G>C (p.Glu3245Asp) c.9489G>C (p.Glu3163Asp) c.4758G>C (p.Glu1586Asp) c.2508G>C (p.Glu836Asp) c.3471G>C (p.Glu1157Asp) | |
| 1 | g.197090973C>T | CA422672467 | ASPM | n.2800G>A c.9513G>A (p.Glu3171=) c.9735G>A (p.Glu3245=) c.9489G>A (p.Glu3163=) c.4758G>A (p.Glu1586=) c.2508G>A (p.Glu836=) c.3471G>A (p.Glu1157=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197090974T>A | CA344003157 | ASPM | n.2799A>T c.9512A>T (p.Glu3171Val) c.9734A>T (p.Glu3245Val) c.9488A>T (p.Glu3163Val) c.4757A>T (p.Glu1586Val) c.2507A>T (p.Glu836Val) c.3470A>T (p.Glu1157Val) | |
| 1 | g.197090974T>C | CA344003166 | ASPM | n.2799A>G c.9512A>G (p.Glu3171Gly) c.9734A>G (p.Glu3245Gly) c.9488A>G (p.Glu3163Gly) c.4757A>G (p.Glu1586Gly) c.2507A>G (p.Glu836Gly) c.3470A>G (p.Glu1157Gly) | |
| 1 | g.197090974T>G | CA344003161 | ASPM | n.2799A>C c.9512A>C (p.Glu3171Ala) c.9734A>C (p.Glu3245Ala) c.9488A>C (p.Glu3163Ala) c.4757A>C (p.Glu1586Ala) c.2507A>C (p.Glu836Ala) c.3470A>C (p.Glu1157Ala) | gnomAD v4 |
| 1 | g.197090975C>A | CA344003177 | ASPM | n.2798G>T c.9511G>T (p.Glu3171Ter) c.9733G>T (p.Glu3245Ter) c.9487G>T (p.Glu3163Ter) c.4756G>T (p.Glu1586Ter) c.2506G>T (p.Glu836Ter) c.3469G>T (p.Glu1157Ter) | |
| 1 | g.197090975C>G | CA344003180 | ASPM | n.2798G>C c.9511G>C (p.Glu3171Gln) c.9733G>C (p.Glu3245Gln) c.9487G>C (p.Glu3163Gln) c.4756G>C (p.Glu1586Gln) c.2506G>C (p.Glu836Gln) c.3469G>C (p.Glu1157Gln) | |
| 1 | g.197090975C>T | CA344003185 | ASPM | n.2798G>A c.9511G>A (p.Glu3171Lys) c.9733G>A (p.Glu3245Lys) c.9487G>A (p.Glu3163Lys) c.4756G>A (p.Glu1586Lys) c.2506G>A (p.Glu836Lys) c.3469G>A (p.Glu1157Lys) | gnomAD v4 |