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.197090951T>A | CA344002915 | ASPM | n.2822A>T c.9535A>T (p.Ser3179Cys) c.9757A>T (p.Ser3253Cys) c.9511A>T (p.Ser3171Cys) c.4780A>T (p.Ser1594Cys) c.2530A>T (p.Ser844Cys) c.3493A>T (p.Ser1165Cys) | |
| 1 | g.197090951T>C | CA344002918 | ASPM | n.2822A>G c.9535A>G (p.Ser3179Gly) c.9757A>G (p.Ser3253Gly) c.9511A>G (p.Ser3171Gly) c.4780A>G (p.Ser1594Gly) c.2530A>G (p.Ser844Gly) c.3493A>G (p.Ser1165Gly) | |
| 1 | g.197090951T>G | CA344002922 | ASPM | n.2822A>C c.9535A>C (p.Ser3179Arg) c.9757A>C (p.Ser3253Arg) c.9511A>C (p.Ser3171Arg) c.4780A>C (p.Ser1594Arg) c.2530A>C (p.Ser844Arg) c.3493A>C (p.Ser1165Arg) | |
| 1 | g.197090952C>A | CA422672455 | ASPM | n.2821G>T c.9534G>T (p.Leu3178=) c.9756G>T (p.Leu3252=) c.9510G>T (p.Leu3170=) c.4779G>T (p.Leu1593=) c.2529G>T (p.Leu843=) c.3492G>T (p.Leu1164=) | |
| 1 | g.197090952C>G | CA422672456 | ASPM | n.2821G>C c.9534G>C (p.Leu3178=) c.9756G>C (p.Leu3252=) c.9510G>C (p.Leu3170=) c.4779G>C (p.Leu1593=) c.2529G>C (p.Leu843=) c.3492G>C (p.Leu1164=) | gnomAD v4 |
| 1 | g.197090952C>T | CA422672457 | ASPM | n.2821G>A c.9534G>A (p.Leu3178=) c.9756G>A (p.Leu3252=) c.9510G>A (p.Leu3170=) c.4779G>A (p.Leu1593=) c.2529G>A (p.Leu843=) c.3492G>A (p.Leu1164=) | |
| 1 | g.197090953A>C | CA344002926 | ASPM | n.2820T>G c.9533T>G (p.Leu3178Arg) c.9755T>G (p.Leu3252Arg) c.9509T>G (p.Leu3170Arg) c.4778T>G (p.Leu1593Arg) c.2528T>G (p.Leu843Arg) c.3491T>G (p.Leu1164Arg) | |
| 1 | g.197090953A>G | CA344002928 | ASPM | n.2820T>C c.9533T>C (p.Leu3178Pro) c.9755T>C (p.Leu3252Pro) c.9509T>C (p.Leu3170Pro) c.4778T>C (p.Leu1593Pro) c.2528T>C (p.Leu843Pro) c.3491T>C (p.Leu1164Pro) | |
| 1 | g.197090953A>T | CA344002931 | ASPM | n.2820T>A c.9533T>A (p.Leu3178Gln) c.9755T>A (p.Leu3252Gln) c.9509T>A (p.Leu3170Gln) c.4778T>A (p.Leu1593Gln) c.2528T>A (p.Leu843Gln) c.3491T>A (p.Leu1164Gln) | |
| 1 | g.197090954G>A | CA422672458 | ASPM | n.2819C>T c.9532C>T (p.Leu3178=) c.9754C>T (p.Leu3252=) c.9508C>T (p.Leu3170=) c.4777C>T (p.Leu1593=) c.2527C>T (p.Leu843=) c.3490C>T (p.Leu1164=) | |
| 1 | g.197090954G>C | CA344002947 | ASPM | n.2819C>G c.9532C>G (p.Leu3178Val) c.9754C>G (p.Leu3252Val) c.9508C>G (p.Leu3170Val) c.4777C>G (p.Leu1593Val) c.2527C>G (p.Leu843Val) c.3490C>G (p.Leu1164Val) | gnomAD v4 |
| 1 | g.197090954G>T | CA344002934 | ASPM | n.2819C>A c.9532C>A (p.Leu3178Met) c.9754C>A (p.Leu3252Met) c.9508C>A (p.Leu3170Met) c.4777C>A (p.Leu1593Met) c.2527C>A (p.Leu843Met) c.3490C>A (p.Leu1164Met) | |
| 1 | g.197090955A>C | CA344002952 | ASPM | n.2818T>G c.9531T>G (p.Cys3177Trp) c.9753T>G (p.Cys3251Trp) c.9507T>G (p.Cys3169Trp) c.4776T>G (p.Cys1592Trp) c.2526T>G (p.Cys842Trp) c.3489T>G (p.Cys1163Trp) | |
| 1 | g.197090955A>G | CA422672459 | ASPM | n.2818T>C c.9531T>C (p.Cys3177=) c.9753T>C (p.Cys3251=) c.9507T>C (p.Cys3169=) c.4776T>C (p.Cys1592=) c.2526T>C (p.Cys842=) c.3489T>C (p.Cys1163=) | |
| 1 | g.197090955A>T | CA344002955 | ASPM | n.2818T>A c.9531T>A (p.Cys3177Ter) c.9753T>A (p.Cys3251Ter) c.9507T>A (p.Cys3169Ter) c.4776T>A (p.Cys1592Ter) c.2526T>A (p.Cys842Ter) c.3489T>A (p.Cys1163Ter) | |
| 1 | g.197090956C>A | CA344002962 | ASPM | n.2817G>T c.9530G>T (p.Cys3177Phe) c.9752G>T (p.Cys3251Phe) c.9506G>T (p.Cys3169Phe) c.4775G>T (p.Cys1592Phe) c.2525G>T (p.Cys842Phe) c.3488G>T (p.Cys1163Phe) | |
| 1 | g.197090956C>G | CA344002965 | ASPM | n.2817G>C c.9530G>C (p.Cys3177Ser) c.9752G>C (p.Cys3251Ser) c.9506G>C (p.Cys3169Ser) c.4775G>C (p.Cys1592Ser) c.2525G>C (p.Cys842Ser) c.3488G>C (p.Cys1163Ser) | |
| 1 | g.197090956C>T | CA344002968 | ASPM | n.2817G>A c.9530G>A (p.Cys3177Tyr) c.9752G>A (p.Cys3251Tyr) c.9506G>A (p.Cys3169Tyr) c.4775G>A (p.Cys1592Tyr) c.2525G>A (p.Cys842Tyr) c.3488G>A (p.Cys1163Tyr) | |
| 1 | g.197090957A= | CA1217925817 | ASPM | n.2816T= c.9529T= (p.Cys3177=) c.9751T= (p.Cys3251=) c.9505T= (p.Cys3169=) c.4774T= (p.Cys1592=) c.2524T= (p.Cys842=) c.3487T= (p.Cys1163=) | |
| 1 | g.197090957A>C | CA344002970 | ASPM | n.2816T>G c.9529T>G (p.Cys3177Gly) c.9751T>G (p.Cys3251Gly) c.9505T>G (p.Cys3169Gly) c.4774T>G (p.Cys1592Gly) c.2524T>G (p.Cys842Gly) c.3487T>G (p.Cys1163Gly) | |
| 1 | g.197090957A>G | CA344002974 | ASPM | n.2816T>C c.9529T>C (p.Cys3177Arg) c.9751T>C (p.Cys3251Arg) c.9505T>C (p.Cys3169Arg) c.4774T>C (p.Cys1592Arg) c.2524T>C (p.Cys842Arg) c.3487T>C (p.Cys1163Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090957A>T | CA344002977 | ASPM | n.2816T>A c.9529T>A (p.Cys3177Ser) c.9751T>A (p.Cys3251Ser) c.9505T>A (p.Cys3169Ser) c.4774T>A (p.Cys1592Ser) c.2524T>A (p.Cys842Ser) c.3487T>A (p.Cys1163Ser) | |
| 1 | g.197090958T>A | CA344002981 | ASPM | n.2815A>T c.9528A>T (p.Glu3176Asp) c.9750A>T (p.Glu3250Asp) c.9504A>T (p.Glu3168Asp) c.4773A>T (p.Glu1591Asp) c.2523A>T (p.Glu841Asp) c.3486A>T (p.Glu1162Asp) | |
| 1 | g.197090958T>C | CA422672460 | ASPM | n.2815A>G c.9528A>G (p.Glu3176=) c.9750A>G (p.Glu3250=) c.9504A>G (p.Glu3168=) c.4773A>G (p.Glu1591=) c.2523A>G (p.Glu841=) c.3486A>G (p.Glu1162=) | gnomAD v4 |
| 1 | g.197090958T>G | CA344002985 | ASPM | n.2815A>C c.9528A>C (p.Glu3176Asp) c.9750A>C (p.Glu3250Asp) c.9504A>C (p.Glu3168Asp) c.4773A>C (p.Glu1591Asp) c.2523A>C (p.Glu841Asp) c.3486A>C (p.Glu1162Asp) | |
| 1 | g.197090959T>A | CA344002991 | ASPM | n.2814A>T c.9527A>T (p.Glu3176Val) c.9749A>T (p.Glu3250Val) c.9503A>T (p.Glu3168Val) c.4772A>T (p.Glu1591Val) c.2522A>T (p.Glu841Val) c.3485A>T (p.Glu1162Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197090959T>C | CA344002994 | ASPM | n.2814A>G c.9527A>G (p.Glu3176Gly) c.9749A>G (p.Glu3250Gly) c.9503A>G (p.Glu3168Gly) c.4772A>G (p.Glu1591Gly) c.2522A>G (p.Glu841Gly) c.3485A>G (p.Glu1162Gly) | |
| 1 | g.197090959T>G | CA344003009 | ASPM | n.2814A>C c.9527A>C (p.Glu3176Ala) c.9749A>C (p.Glu3250Ala) c.9503A>C (p.Glu3168Ala) c.4772A>C (p.Glu1591Ala) c.2522A>C (p.Glu841Ala) c.3485A>C (p.Glu1162Ala) | |
| 1 | g.197090959T= | CA1217925821 | ASPM | n.2814A= c.9527A= (p.Glu3176=) c.9749A= (p.Glu3250=) c.9503A= (p.Glu3168=) c.4772A= (p.Glu1591=) c.2522A= (p.Glu841=) c.3485A= (p.Glu1162=) | |
| 1 | g.197090960C>A | CA344003017 | ASPM | n.2813G>T c.9526G>T (p.Glu3176Ter) c.9748G>T (p.Glu3250Ter) c.9502G>T (p.Glu3168Ter) c.4771G>T (p.Glu1591Ter) c.2521G>T (p.Glu841Ter) c.3484G>T (p.Glu1162Ter) | |
| 1 | g.197090960C>G | CA344003015 | ASPM | n.2813G>C c.9526G>C (p.Glu3176Gln) c.9748G>C (p.Glu3250Gln) c.9502G>C (p.Glu3168Gln) c.4771G>C (p.Glu1591Gln) c.2521G>C (p.Glu841Gln) c.3484G>C (p.Glu1162Gln) | COSMIC |
| 1 | g.197090960C>T | CA344003012 | ASPM | n.2813G>A c.9526G>A (p.Glu3176Lys) c.9748G>A (p.Glu3250Lys) c.9502G>A (p.Glu3168Lys) c.4771G>A (p.Glu1591Lys) c.2521G>A (p.Glu841Lys) c.3484G>A (p.Glu1162Lys) | COSMIC |
| 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 |