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.197093096C>A | CA344006804 | ASPM | n.2537G>T c.9250G>T (p.Val3084Phe) c.9472G>T (p.Val3158Phe) c.4495G>T (p.Val1499Phe) c.2245G>T (p.Val749Phe) c.3208G>T (p.Val1070Phe) | |
| 1 | g.197093096C= | CA1141659807 | ASPM | n.2537G= c.9250G= (p.Val3084=) c.9472G= (p.Val3158=) c.4495G= (p.Val1499=) c.2245G= (p.Val749=) c.3208G= (p.Val1070=) | |
| 1 | g.197093096C>G | CA344006805 | ASPM | n.2537G>C c.9250G>C (p.Val3084Leu) c.9472G>C (p.Val3158Leu) c.4495G>C (p.Val1499Leu) c.2245G>C (p.Val749Leu) c.3208G>C (p.Val1070Leu) | |
| 1 | g.197093096C>T | CA1309005 | ASPM | n.2537G>A c.9250G>A (p.Val3084Ile) c.9472G>A (p.Val3158Ile) c.4495G>A (p.Val1499Ile) c.2245G>A (p.Val749Ile) c.3208G>A (p.Val1070Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093097T>A | CA422672871 | ASPM | n.2536A>T c.9249A>T (p.Thr3083=) c.9471A>T (p.Thr3157=) c.4494A>T (p.Thr1498=) c.2244A>T (p.Thr748=) c.3207A>T (p.Thr1069=) | |
| 1 | g.197093097T>C | CA422672873 | ASPM | n.2536A>G c.9249A>G (p.Thr3083=) c.9471A>G (p.Thr3157=) c.4494A>G (p.Thr1498=) c.2244A>G (p.Thr748=) c.3207A>G (p.Thr1069=) | |
| 1 | g.197093097T>G | CA422672874 | ASPM | n.2536A>C c.9249A>C (p.Thr3083=) c.9471A>C (p.Thr3157=) c.4494A>C (p.Thr1498=) c.2244A>C (p.Thr748=) c.3207A>C (p.Thr1069=) | |
| 1 | g.197093098G>A | CA344006806 | ASPM | n.2535C>T c.9248C>T (p.Thr3083Ile) c.9470C>T (p.Thr3157Ile) c.4493C>T (p.Thr1498Ile) c.2243C>T (p.Thr748Ile) c.3206C>T (p.Thr1069Ile) | gnomAD v4 |
| 1 | g.197093098G>C | CA344006807 | ASPM | n.2535C>G c.9248C>G (p.Thr3083Arg) c.9470C>G (p.Thr3157Arg) c.4493C>G (p.Thr1498Arg) c.2243C>G (p.Thr748Arg) c.3206C>G (p.Thr1069Arg) | |
| 1 | g.197093098G>T | CA344006808 | ASPM | n.2535C>A c.9248C>A (p.Thr3083Lys) c.9470C>A (p.Thr3157Lys) c.4493C>A (p.Thr1498Lys) c.2243C>A (p.Thr748Lys) c.3206C>A (p.Thr1069Lys) | |
| 1 | g.197093099T>A | CA344006814 | ASPM | n.2534A>T c.9247A>T (p.Thr3083Ser) c.9469A>T (p.Thr3157Ser) c.4492A>T (p.Thr1498Ser) c.2242A>T (p.Thr748Ser) c.3205A>T (p.Thr1069Ser) | |
| 1 | g.197093099T>C | CA344006816 | ASPM | n.2534A>G c.9247A>G (p.Thr3083Ala) c.9469A>G (p.Thr3157Ala) c.4492A>G (p.Thr1498Ala) c.2242A>G (p.Thr748Ala) c.3205A>G (p.Thr1069Ala) | dbSNP |
| 1 | g.197093099T>G | CA344006812 | ASPM | n.2534A>C c.9247A>C (p.Thr3083Pro) c.9469A>C (p.Thr3157Pro) c.4492A>C (p.Thr1498Pro) c.2242A>C (p.Thr748Pro) c.3205A>C (p.Thr1069Pro) | |
| 1 | g.197093099T= | CA1217926682 | ASPM | n.2534A= c.9247A= (p.Thr3083=) c.9469A= (p.Thr3157=) c.4492A= (p.Thr1498=) c.2242A= (p.Thr748=) c.3205A= (p.Thr1069=) | |
| 1 | g.197093100A= | CA1143457821 | ASPM | n.2533T= c.9246T= (p.Ser3082=) c.9468T= (p.Ser3156=) c.4491T= (p.Ser1497=) c.2241T= (p.Ser747=) c.3204T= (p.Ser1068=) | |
| 1 | g.197093100A>C | CA422672883 | ASPM | n.2533T>G c.9246T>G (p.Ser3082=) c.9468T>G (p.Ser3156=) c.4491T>G (p.Ser1497=) c.2241T>G (p.Ser747=) c.3204T>G (p.Ser1068=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197093100A>G | CA1309006 | ASPM | n.2533T>C c.9246T>C (p.Ser3082=) c.9468T>C (p.Ser3156=) c.4491T>C (p.Ser1497=) c.2241T>C (p.Ser747=) c.3204T>C (p.Ser1068=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093100A>T | CA422672886 | ASPM | n.2533T>A c.9246T>A (p.Ser3082=) c.9468T>A (p.Ser3156=) c.4491T>A (p.Ser1497=) c.2241T>A (p.Ser747=) c.3204T>A (p.Ser1068=) | |
| 1 | g.197093100dup | CA645534325 | ASPM | n.2533dup c.9246dup (p.Thr3083TyrfsTer?) c.9468dup (p.Thr3157TyrfsTer?) c.4491dup (p.Thr1498TyrfsTer?) c.2241dup (p.Thr748TyrfsTer?) c.3204dup (p.Thr1069TyrfsTer?) | COSMIC |
| 1 | g.197093101G>A | CA344006823 | ASPM | n.2532C>T c.9245C>T (p.Ser3082Phe) c.9467C>T (p.Ser3156Phe) c.4490C>T (p.Ser1497Phe) c.2240C>T (p.Ser747Phe) c.3203C>T (p.Ser1068Phe) | |
| 1 | g.197093101G>C | CA344006828 | ASPM | n.2532C>G c.9245C>G (p.Ser3082Cys) c.9467C>G (p.Ser3156Cys) c.4490C>G (p.Ser1497Cys) c.2240C>G (p.Ser747Cys) c.3203C>G (p.Ser1068Cys) | dbSNP |
| 1 | g.197093101G= | CA1217926683 | ASPM | n.2532C= c.9245C= (p.Ser3082=) c.9467C= (p.Ser3156=) c.4490C= (p.Ser1497=) c.2240C= (p.Ser747=) c.3203C= (p.Ser1068=) | |
| 1 | g.197093101G>T | CA344006825 | ASPM | n.2532C>A c.9245C>A (p.Ser3082Tyr) c.9467C>A (p.Ser3156Tyr) c.4490C>A (p.Ser1497Tyr) c.2240C>A (p.Ser747Tyr) c.3203C>A (p.Ser1068Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197093102A= | CA1217926684 | ASPM | n.2531T= c.9244T= (p.Ser3082=) c.9466T= (p.Ser3156=) c.4489T= (p.Ser1497=) c.2239T= (p.Ser747=) c.3202T= (p.Ser1068=) | |
| 1 | g.197093102A>C | CA344006830 | ASPM | n.2531T>G c.9244T>G (p.Ser3082Ala) c.9466T>G (p.Ser3156Ala) c.4489T>G (p.Ser1497Ala) c.2239T>G (p.Ser747Ala) c.3202T>G (p.Ser1068Ala) | |
| 1 | g.197093102A>G | CA344006832 | ASPM | n.2531T>C c.9244T>C (p.Ser3082Pro) c.9466T>C (p.Ser3156Pro) c.4489T>C (p.Ser1497Pro) c.2239T>C (p.Ser747Pro) c.3202T>C (p.Ser1068Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197093102A>T | CA344006835 | ASPM | n.2531T>A c.9244T>A (p.Ser3082Thr) c.9466T>A (p.Ser3156Thr) c.4489T>A (p.Ser1497Thr) c.2239T>A (p.Ser747Thr) c.3202T>A (p.Ser1068Thr) | |
| 1 | g.197093103T>A | CA344006839 | ASPM | n.2530A>T c.9243A>T (p.Lys3081Asn) c.9465A>T (p.Lys3155Asn) c.4488A>T (p.Lys1496Asn) c.2238A>T (p.Lys746Asn) c.3201A>T (p.Lys1067Asn) | |
| 1 | g.197093103T>C | CA422672901 | ASPM | n.2530A>G c.9243A>G (p.Lys3081=) c.9465A>G (p.Lys3155=) c.4488A>G (p.Lys1496=) c.2238A>G (p.Lys746=) c.3201A>G (p.Lys1067=) | |
| 1 | g.197093103T>G | CA344006841 | ASPM | n.2530A>C c.9243A>C (p.Lys3081Asn) c.9465A>C (p.Lys3155Asn) c.4488A>C (p.Lys1496Asn) c.2238A>C (p.Lys746Asn) c.3201A>C (p.Lys1067Asn) | |
| 1 | g.197093103_197093108delinsTTTTTT | CA1149118332 | ASPM | n.2525_2530delinsAAAAAA c.9238_9243delinsAAAAAA (p.Lys3080=) c.9460_9465delinsAAAAAA (p.Lys3154=) c.4483_4488delinsAAAAAA (p.Lys1495=) c.2233_2238delinsAAAAAA (p.Lys745=) c.3196_3201delinsAAAAAA (p.Lys1066=) | |
| 1 | g.197093108dup | CA1309007 | ASPM | n.2530dup c.9243dup (p.Ser3082IlefsTer?) c.9465dup (p.Ser3156IlefsTer?) c.4488dup (p.Ser1497IlefsTer?) c.2238dup (p.Ser747IlefsTer?) c.3201dup (p.Ser1068IlefsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197093104T>A | CA344006846 | ASPM | n.2529A>T c.9242A>T (p.Lys3081Ile) c.9464A>T (p.Lys3155Ile) c.4487A>T (p.Lys1496Ile) c.2237A>T (p.Lys746Ile) c.3200A>T (p.Lys1067Ile) | |
| 1 | g.197093104T>C | CA344006848 | ASPM | n.2529A>G c.9242A>G (p.Lys3081Arg) c.9464A>G (p.Lys3155Arg) c.4487A>G (p.Lys1496Arg) c.2237A>G (p.Lys746Arg) c.3200A>G (p.Lys1067Arg) | |
| 1 | g.197093104T>G | CA344006850 | ASPM | n.2529A>C c.9242A>C (p.Lys3081Thr) c.9464A>C (p.Lys3155Thr) c.4487A>C (p.Lys1496Thr) c.2237A>C (p.Lys746Thr) c.3200A>C (p.Lys1067Thr) | |
| 1 | g.197093105T>A | CA344006854 | ASPM | n.2528A>T c.9241A>T (p.Lys3081Ter) c.9463A>T (p.Lys3155Ter) c.4486A>T (p.Lys1496Ter) c.2236A>T (p.Lys746Ter) c.3199A>T (p.Lys1067Ter) | |
| 1 | g.197093105T>C | CA344006856 | ASPM | n.2528A>G c.9241A>G (p.Lys3081Glu) c.9463A>G (p.Lys3155Glu) c.4486A>G (p.Lys1496Glu) c.2236A>G (p.Lys746Glu) c.3199A>G (p.Lys1067Glu) | |
| 1 | g.197093105T>G | CA344006859 | ASPM | n.2528A>C c.9241A>C (p.Lys3081Gln) c.9463A>C (p.Lys3155Gln) c.4486A>C (p.Lys1496Gln) c.2236A>C (p.Lys746Gln) c.3199A>C (p.Lys1067Gln) | |
| 1 | g.197093106T>A | CA344006862 | ASPM | n.2527A>T c.9240A>T (p.Lys3080Asn) c.9462A>T (p.Lys3154Asn) c.4485A>T (p.Lys1495Asn) c.2235A>T (p.Lys745Asn) c.3198A>T (p.Lys1066Asn) | COSMIC |
| 1 | g.197093106T>C | CA422672911 | ASPM | n.2527A>G c.9240A>G (p.Lys3080=) c.9462A>G (p.Lys3154=) c.4485A>G (p.Lys1495=) c.2235A>G (p.Lys745=) c.3198A>G (p.Lys1066=) | |
| 1 | g.197093106T>G | CA344006864 | ASPM | n.2527A>C c.9240A>C (p.Lys3080Asn) c.9462A>C (p.Lys3154Asn) c.4485A>C (p.Lys1495Asn) c.2235A>C (p.Lys745Asn) c.3198A>C (p.Lys1066Asn) | |
| 1 | g.197093107T>A | CA344006866 | ASPM | n.2526A>T c.9239A>T (p.Lys3080Ile) c.9461A>T (p.Lys3154Ile) c.4484A>T (p.Lys1495Ile) c.2234A>T (p.Lys745Ile) c.3197A>T (p.Lys1066Ile) | |
| 1 | g.197093107T>C | CA344006867 | ASPM | n.2526A>G c.9239A>G (p.Lys3080Arg) c.9461A>G (p.Lys3154Arg) c.4484A>G (p.Lys1495Arg) c.2234A>G (p.Lys745Arg) c.3197A>G (p.Lys1066Arg) | gnomAD v4 |
| 1 | g.197093107T>G | CA344006868 | ASPM | n.2526A>C c.9239A>C (p.Lys3080Thr) c.9461A>C (p.Lys3154Thr) c.4484A>C (p.Lys1495Thr) c.2234A>C (p.Lys745Thr) c.3197A>C (p.Lys1066Thr) | gnomAD v4 |
| 1 | g.197093108T>A | CA342291 | ASPM | n.2525A>T c.9238A>T (p.Lys3080Ter) c.9460A>T (p.Lys3154Ter) c.4483A>T (p.Lys1495Ter) c.2233A>T (p.Lys745Ter) c.3196A>T (p.Lys1066Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093108T>C | CA344006869 | ASPM | n.2525A>G c.9238A>G (p.Lys3080Glu) c.9460A>G (p.Lys3154Glu) c.4483A>G (p.Lys1495Glu) c.2233A>G (p.Lys745Glu) c.3196A>G (p.Lys1066Glu) | dbSNP |
| 1 | g.197093108T>G | CA344006870 | ASPM | n.2525A>C c.9238A>C (p.Lys3080Gln) c.9460A>C (p.Lys3154Gln) c.4483A>C (p.Lys1495Gln) c.2233A>C (p.Lys745Gln) c.3196A>C (p.Lys1066Gln) | |
| 1 | g.197093108T= | CA1143355793 | ASPM | n.2525A= c.9238A= (p.Lys3080=) c.9460A= (p.Lys3154=) c.4483A= (p.Lys1495=) c.2233A= (p.Lys745=) c.3196A= (p.Lys1066=) | |
| 1 | g.197093109A= | CA1144872943 | ASPM | n.2524T= c.9237T= (p.Phe3079=) c.9459T= (p.Phe3153=) c.4482T= (p.Phe1494=) c.2232T= (p.Phe744=) c.3195T= (p.Phe1065=) | |
| 1 | g.197093109A>C | CA344006871 | ASPM | n.2524T>G c.9237T>G (p.Phe3079Leu) c.9459T>G (p.Phe3153Leu) c.4482T>G (p.Phe1494Leu) c.2232T>G (p.Phe744Leu) c.3195T>G (p.Phe1065Leu) |