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.197090860A= | CA1217925665 | ASPM | n.2913T= c.9626T= (p.Ile3209=) c.9848T= (p.Ile3283=) c.9602T= (p.Ile3201=) c.4871T= (p.Ile1624=) c.2621T= (p.Ile874=) c.3584T= (p.Ile1195=) | |
| 1 | g.197090860A>C | CA344002297 | ASPM | n.2913T>G c.9626T>G (p.Ile3209Ser) c.9848T>G (p.Ile3283Ser) c.9602T>G (p.Ile3201Ser) c.4871T>G (p.Ile1624Ser) c.2621T>G (p.Ile874Ser) c.3584T>G (p.Ile1195Ser) | |
| 1 | g.197090860A>G | CA16603499 | ASPM | n.2913T>C c.9626T>C (p.Ile3209Thr) c.9848T>C (p.Ile3283Thr) c.9602T>C (p.Ile3201Thr) c.4871T>C (p.Ile1624Thr) c.2621T>C (p.Ile874Thr) c.3584T>C (p.Ile1195Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090860A>T | CA344002296 | ASPM | n.2913T>A c.9626T>A (p.Ile3209Asn) c.9848T>A (p.Ile3283Asn) c.9602T>A (p.Ile3201Asn) c.4871T>A (p.Ile1624Asn) c.2621T>A (p.Ile874Asn) c.3584T>A (p.Ile1195Asn) | gnomAD v4 |
| 1 | g.197090861T>A | CA344002298 | ASPM | n.2912A>T c.9625A>T (p.Ile3209Phe) c.9847A>T (p.Ile3283Phe) c.9601A>T (p.Ile3201Phe) c.4870A>T (p.Ile1624Phe) c.2620A>T (p.Ile874Phe) c.3583A>T (p.Ile1195Phe) | |
| 1 | g.197090861T>C | CA344002300 | ASPM | n.2912A>G c.9625A>G (p.Ile3209Val) c.9847A>G (p.Ile3283Val) c.9601A>G (p.Ile3201Val) c.4870A>G (p.Ile1624Val) c.2620A>G (p.Ile874Val) c.3583A>G (p.Ile1195Val) | gnomAD v4 |
| 1 | g.197090861T>G | CA344002301 | ASPM | n.2912A>C c.9625A>C (p.Ile3209Leu) c.9847A>C (p.Ile3283Leu) c.9601A>C (p.Ile3201Leu) c.4870A>C (p.Ile1624Leu) c.2620A>C (p.Ile874Leu) c.3583A>C (p.Ile1195Leu) | |
| 1 | g.197090862G>A | CA422672399 | ASPM | n.2911C>T c.9624C>T (p.Ile3208=) c.9846C>T (p.Ile3282=) c.9600C>T (p.Ile3200=) c.4869C>T (p.Ile1623=) c.2619C>T (p.Ile873=) c.3582C>T (p.Ile1194=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090862G>C | CA344002304 | ASPM | n.2911C>G c.9624C>G (p.Ile3208Met) c.9846C>G (p.Ile3282Met) c.9600C>G (p.Ile3200Met) c.4869C>G (p.Ile1623Met) c.2619C>G (p.Ile873Met) c.3582C>G (p.Ile1194Met) | |
| 1 | g.197090862G= | CA1217925669 | ASPM | n.2911C= c.9624C= (p.Ile3208=) c.9846C= (p.Ile3282=) c.9600C= (p.Ile3200=) c.4869C= (p.Ile1623=) c.2619C= (p.Ile873=) c.3582C= (p.Ile1194=) | |
| 1 | g.197090862G>T | CA1308913 | ASPM | n.2911C>A c.9624C>A (p.Ile3208=) c.9846C>A (p.Ile3282=) c.9600C>A (p.Ile3200=) c.4869C>A (p.Ile1623=) c.2619C>A (p.Ile873=) c.3582C>A (p.Ile1194=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090863A>C | CA344002314 | ASPM | n.2910T>G c.9623T>G (p.Ile3208Ser) c.9845T>G (p.Ile3282Ser) c.9599T>G (p.Ile3200Ser) c.4868T>G (p.Ile1623Ser) c.2618T>G (p.Ile873Ser) c.3581T>G (p.Ile1194Ser) | |
| 1 | g.197090863A>G | CA344002313 | ASPM | n.2910T>C c.9623T>C (p.Ile3208Thr) c.9845T>C (p.Ile3282Thr) c.9599T>C (p.Ile3200Thr) c.4868T>C (p.Ile1623Thr) c.2618T>C (p.Ile873Thr) c.3581T>C (p.Ile1194Thr) | |
| 1 | g.197090863A>T | CA344002311 | ASPM | n.2910T>A c.9623T>A (p.Ile3208Asn) c.9845T>A (p.Ile3282Asn) c.9599T>A (p.Ile3200Asn) c.4868T>A (p.Ile1623Asn) c.2618T>A (p.Ile873Asn) c.3581T>A (p.Ile1194Asn) | |
| 1 | g.197090864T>A | CA344002315 | ASPM | n.2909A>T c.9622A>T (p.Ile3208Phe) c.9844A>T (p.Ile3282Phe) c.9598A>T (p.Ile3200Phe) c.4867A>T (p.Ile1623Phe) c.2617A>T (p.Ile873Phe) c.3580A>T (p.Ile1194Phe) | |
| 1 | g.197090864T>C | CA344002317 | ASPM | n.2909A>G c.9622A>G (p.Ile3208Val) c.9844A>G (p.Ile3282Val) c.9598A>G (p.Ile3200Val) c.4867A>G (p.Ile1623Val) c.2617A>G (p.Ile873Val) c.3580A>G (p.Ile1194Val) | gnomAD v4 |
| 1 | g.197090864T>G | CA344002319 | ASPM | n.2909A>C c.9622A>C (p.Ile3208Leu) c.9844A>C (p.Ile3282Leu) c.9598A>C (p.Ile3200Leu) c.4867A>C (p.Ile1623Leu) c.2617A>C (p.Ile873Leu) c.3580A>C (p.Ile1194Leu) | |
| 1 | g.197090865T>A | CA422672401 | ASPM | n.2908A>T c.9621A>T (p.Gly3207=) c.9843A>T (p.Gly3281=) c.9597A>T (p.Gly3199=) c.4866A>T (p.Gly1622=) c.2616A>T (p.Gly872=) c.3579A>T (p.Gly1193=) | |
| 1 | g.197090865T>C | CA422672402 | ASPM | n.2908A>G c.9621A>G (p.Gly3207=) c.9843A>G (p.Gly3281=) c.9597A>G (p.Gly3199=) c.4866A>G (p.Gly1622=) c.2616A>G (p.Gly872=) c.3579A>G (p.Gly1193=) | dbSNP |
| 1 | g.197090865T>G | CA422672403 | ASPM | n.2908A>C c.9621A>C (p.Gly3207=) c.9843A>C (p.Gly3281=) c.9597A>C (p.Gly3199=) c.4866A>C (p.Gly1622=) c.2616A>C (p.Gly872=) c.3579A>C (p.Gly1193=) | |
| 1 | g.197090865T= | CA1217925672 | ASPM | n.2908A= c.9621A= (p.Gly3207=) c.9843A= (p.Gly3281=) c.9597A= (p.Gly3199=) c.4866A= (p.Gly1622=) c.2616A= (p.Gly872=) c.3579A= (p.Gly1193=) | |
| 1 | g.197090866C>A | CA344002321 | ASPM | n.2907G>T c.9620G>T (p.Gly3207Val) c.9842G>T (p.Gly3281Val) c.9596G>T (p.Gly3199Val) c.4865G>T (p.Gly1622Val) c.2615G>T (p.Gly872Val) c.3578G>T (p.Gly1193Val) | |
| 1 | g.197090866C= | CA1217925676 | ASPM | n.2907G= c.9620G= (p.Gly3207=) c.9842G= (p.Gly3281=) c.9596G= (p.Gly3199=) c.4865G= (p.Gly1622=) c.2615G= (p.Gly872=) c.3578G= (p.Gly1193=) | |
| 1 | g.197090866C>G | CA344002323 | ASPM | n.2907G>C c.9620G>C (p.Gly3207Ala) c.9842G>C (p.Gly3281Ala) c.9596G>C (p.Gly3199Ala) c.4865G>C (p.Gly1622Ala) c.2615G>C (p.Gly872Ala) c.3578G>C (p.Gly1193Ala) | |
| 1 | g.197090866C>T | CA344002324 | ASPM | n.2907G>A c.9620G>A (p.Gly3207Glu) c.9842G>A (p.Gly3281Glu) c.9596G>A (p.Gly3199Glu) c.4865G>A (p.Gly1622Glu) c.2615G>A (p.Gly872Glu) c.3578G>A (p.Gly1193Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090867C>A | CA344002328 | ASPM | n.2906G>T c.9619G>T (p.Gly3207Ter) c.9841G>T (p.Gly3281Ter) c.9595G>T (p.Gly3199Ter) c.4864G>T (p.Gly1622Ter) c.2614G>T (p.Gly872Ter) c.3577G>T (p.Gly1193Ter) | |
| 1 | g.197090867C>G | CA344002340 | ASPM | n.2906G>C c.9619G>C (p.Gly3207Arg) c.9841G>C (p.Gly3281Arg) c.9595G>C (p.Gly3199Arg) c.4864G>C (p.Gly1622Arg) c.2614G>C (p.Gly872Arg) c.3577G>C (p.Gly1193Arg) | |
| 1 | g.197090867C>T | CA344002337 | ASPM | n.2906G>A c.9619G>A (p.Gly3207Arg) c.9841G>A (p.Gly3281Arg) c.9595G>A (p.Gly3199Arg) c.4864G>A (p.Gly1622Arg) c.2614G>A (p.Gly872Arg) c.3577G>A (p.Gly1193Arg) | |
| 1 | g.197090868A>C | CA344002343 | ASPM | n.2905T>G c.9618T>G (p.Ser3206Arg) c.9840T>G (p.Ser3280Arg) c.9594T>G (p.Ser3198Arg) c.4863T>G (p.Ser1621Arg) c.2613T>G (p.Ser871Arg) c.3576T>G (p.Ser1192Arg) | |
| 1 | g.197090868A>G | CA422672404 | ASPM | n.2905T>C c.9618T>C (p.Ser3206=) c.9840T>C (p.Ser3280=) c.9594T>C (p.Ser3198=) c.4863T>C (p.Ser1621=) c.2613T>C (p.Ser871=) c.3576T>C (p.Ser1192=) | |
| 1 | g.197090868A>T | CA344002345 | ASPM | n.2905T>A c.9618T>A (p.Ser3206Arg) c.9840T>A (p.Ser3280Arg) c.9594T>A (p.Ser3198Arg) c.4863T>A (p.Ser1621Arg) c.2613T>A (p.Ser871Arg) c.3576T>A (p.Ser1192Arg) | |
| 1 | g.197090869C>A | CA344002346 | ASPM | n.2904G>T c.9617G>T (p.Ser3206Ile) c.9839G>T (p.Ser3280Ile) c.9593G>T (p.Ser3198Ile) c.4862G>T (p.Ser1621Ile) c.2612G>T (p.Ser871Ile) c.3575G>T (p.Ser1192Ile) | |
| 1 | g.197090869C= | CA1217925678 | ASPM | n.2904G= c.9617G= (p.Ser3206=) c.9839G= (p.Ser3280=) c.9593G= (p.Ser3198=) c.4862G= (p.Ser1621=) c.2612G= (p.Ser871=) c.3575G= (p.Ser1192=) | |
| 1 | g.197090869C>G | CA1308914 | ASPM | n.2904G>C c.9617G>C (p.Ser3206Thr) c.9839G>C (p.Ser3280Thr) c.9593G>C (p.Ser3198Thr) c.4862G>C (p.Ser1621Thr) c.2612G>C (p.Ser871Thr) c.3575G>C (p.Ser1192Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197090869C>T | CA344002347 | ASPM | n.2904G>A c.9617G>A (p.Ser3206Asn) c.9839G>A (p.Ser3280Asn) c.9593G>A (p.Ser3198Asn) c.4862G>A (p.Ser1621Asn) c.2612G>A (p.Ser871Asn) c.3575G>A (p.Ser1192Asn) | dbSNP |
| 1 | g.197090870T>A | CA344002350 | ASPM | n.2903A>T c.9616A>T (p.Ser3206Cys) c.9838A>T (p.Ser3280Cys) c.9592A>T (p.Ser3198Cys) c.4861A>T (p.Ser1621Cys) c.2611A>T (p.Ser871Cys) c.3574A>T (p.Ser1192Cys) | |
| 1 | g.197090870T>C | CA344002352 | ASPM | n.2903A>G c.9616A>G (p.Ser3206Gly) c.9838A>G (p.Ser3280Gly) c.9592A>G (p.Ser3198Gly) c.4861A>G (p.Ser1621Gly) c.2611A>G (p.Ser871Gly) c.3574A>G (p.Ser1192Gly) | COSMIC |
| 1 | g.197090870T>G | CA344002355 | ASPM | n.2903A>C c.9616A>C (p.Ser3206Arg) c.9838A>C (p.Ser3280Arg) c.9592A>C (p.Ser3198Arg) c.4861A>C (p.Ser1621Arg) c.2611A>C (p.Ser871Arg) c.3574A>C (p.Ser1192Arg) | |
| 1 | g.197090871A= | CA1217925683 | ASPM | n.2902T= c.9615T= (p.Thr3205=) c.9837T= (p.Thr3279=) c.9591T= (p.Thr3197=) c.4860T= (p.Thr1620=) c.2610T= (p.Thr870=) c.3573T= (p.Thr1191=) | |
| 1 | g.197090871A>C | CA422672405 | ASPM | n.2902T>G c.9615T>G (p.Thr3205=) c.9837T>G (p.Thr3279=) c.9591T>G (p.Thr3197=) c.4860T>G (p.Thr1620=) c.2610T>G (p.Thr870=) c.3573T>G (p.Thr1191=) | gnomAD v4 |
| 1 | g.197090871A>G | CA422672406 | ASPM | n.2902T>C c.9615T>C (p.Thr3205=) c.9837T>C (p.Thr3279=) c.9591T>C (p.Thr3197=) c.4860T>C (p.Thr1620=) c.2610T>C (p.Thr870=) c.3573T>C (p.Thr1191=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197090871A>T | CA422672407 | ASPM | n.2902T>A c.9615T>A (p.Thr3205=) c.9837T>A (p.Thr3279=) c.9591T>A (p.Thr3197=) c.4860T>A (p.Thr1620=) c.2610T>A (p.Thr870=) c.3573T>A (p.Thr1191=) | |
| 1 | g.197090872G>A | CA344002358 | ASPM | n.2901C>T c.9614C>T (p.Thr3205Ile) c.9836C>T (p.Thr3279Ile) c.9590C>T (p.Thr3197Ile) c.4859C>T (p.Thr1620Ile) c.2609C>T (p.Thr870Ile) c.3572C>T (p.Thr1191Ile) | |
| 1 | g.197090872G>C | CA344002361 | ASPM | n.2901C>G c.9614C>G (p.Thr3205Ser) c.9836C>G (p.Thr3279Ser) c.9590C>G (p.Thr3197Ser) c.4859C>G (p.Thr1620Ser) c.2609C>G (p.Thr870Ser) c.3572C>G (p.Thr1191Ser) | |
| 1 | g.197090872G>T | CA344002362 | ASPM | n.2901C>A c.9614C>A (p.Thr3205Asn) c.9836C>A (p.Thr3279Asn) c.9590C>A (p.Thr3197Asn) c.4859C>A (p.Thr1620Asn) c.2609C>A (p.Thr870Asn) c.3572C>A (p.Thr1191Asn) | gnomAD v4 |
| 1 | g.197090873T>A | CA344002369 | ASPM | n.2900A>T c.9613A>T (p.Thr3205Ser) c.9835A>T (p.Thr3279Ser) c.9589A>T (p.Thr3197Ser) c.4858A>T (p.Thr1620Ser) c.2608A>T (p.Thr870Ser) c.3571A>T (p.Thr1191Ser) | gnomAD v4 |
| 1 | g.197090873T>C | CA344002365 | ASPM | n.2900A>G c.9613A>G (p.Thr3205Ala) c.9835A>G (p.Thr3279Ala) c.9589A>G (p.Thr3197Ala) c.4858A>G (p.Thr1620Ala) c.2608A>G (p.Thr870Ala) c.3571A>G (p.Thr1191Ala) | |
| 1 | g.197090873T>G | CA344002367 | ASPM | n.2900A>C c.9613A>C (p.Thr3205Pro) c.9835A>C (p.Thr3279Pro) c.9589A>C (p.Thr3197Pro) c.4858A>C (p.Thr1620Pro) c.2608A>C (p.Thr870Pro) c.3571A>C (p.Thr1191Pro) | |
| 1 | g.197090874G>A | CA422672408 | ASPM | n.2899C>T c.9612C>T (p.Phe3204=) c.9834C>T (p.Phe3278=) c.9588C>T (p.Phe3196=) c.4857C>T (p.Phe1619=) c.2607C>T (p.Phe869=) c.3570C>T (p.Phe1190=) | |
| 1 | g.197090874G>C | CA344002372 | ASPM | n.2899C>G c.9612C>G (p.Phe3204Leu) c.9834C>G (p.Phe3278Leu) c.9588C>G (p.Phe3196Leu) c.4857C>G (p.Phe1619Leu) c.2607C>G (p.Phe869Leu) c.3570C>G (p.Phe1190Leu) |