WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197090340_197090344delinsTTTTT | CA1143355788 | ASPM | n.2968_2972delinsAAAAA c.9681_9685delinsAAAAA (p.Thr3227=) c.9903_9907delinsAAAAA (p.Thr3301=) c.9657_9661delinsAAAAA (p.Thr3219=) c.4926_4930delinsAAAAA (p.Thr1642=) c.2676_2680delinsAAAAA (p.Thr892=) c.3639_3643delinsAAAAA (p.Thr1213=) | |
| 1 | g.197090344del | CA342305 | ASPM | n.2972del c.9685del (p.Ile3229LeufsTer6) c.9907del (p.Ile3303LeufsTer6) c.9661del (p.Ile3221LeufsTer6) c.4930del (p.Ile1644LeufsTer6) c.2680del (p.Ile894LeufsTer6) c.3643del (p.Ile1215LeufsTer6) | ClinVar dbSNP ExAC gnomAD v4 |
| 1 | g.197090344T>A | CA422672340 | ASPM | n.2968A>T c.9681A>T (p.Thr3227=) c.9903A>T (p.Thr3301=) c.9657A>T (p.Thr3219=) c.4926A>T (p.Thr1642=) c.2676A>T (p.Thr892=) c.3639A>T (p.Thr1213=) | |
| 1 | g.197090344T>C | CA35862011 | ASPM | n.2968A>G c.9681A>G (p.Thr3227=) c.9903A>G (p.Thr3301=) c.9657A>G (p.Thr3219=) c.4926A>G (p.Thr1642=) c.2676A>G (p.Thr892=) c.3639A>G (p.Thr1213=) | dbSNP |
| 1 | g.197090344T>G | CA422672341 | ASPM | n.2968A>C c.9681A>C (p.Thr3227=) c.9903A>C (p.Thr3301=) c.9657A>C (p.Thr3219=) c.4926A>C (p.Thr1642=) c.2676A>C (p.Thr892=) c.3639A>C (p.Thr1213=) | |
| 1 | g.197090344T= | CA1217925313 | ASPM | n.2968A= c.9681A= (p.Thr3227=) c.9903A= (p.Thr3301=) c.9657A= (p.Thr3219=) c.4926A= (p.Thr1642=) c.2676A= (p.Thr892=) c.3639A= (p.Thr1213=) | |
| 1 | g.197090345G>A | CA344001926 | ASPM | n.2967C>T c.9680C>T (p.Thr3227Ile) c.9902C>T (p.Thr3301Ile) c.9656C>T (p.Thr3219Ile) c.4925C>T (p.Thr1642Ile) c.2675C>T (p.Thr892Ile) c.3638C>T (p.Thr1213Ile) | |
| 1 | g.197090345G>C | CA344001927 | ASPM | n.2967C>G c.9680C>G (p.Thr3227Arg) c.9902C>G (p.Thr3301Arg) c.9656C>G (p.Thr3219Arg) c.4925C>G (p.Thr1642Arg) c.2675C>G (p.Thr892Arg) c.3638C>G (p.Thr1213Arg) | |
| 1 | g.197090345G>T | CA344001928 | ASPM | n.2967C>A c.9680C>A (p.Thr3227Lys) c.9902C>A (p.Thr3301Lys) c.9656C>A (p.Thr3219Lys) c.4925C>A (p.Thr1642Lys) c.2675C>A (p.Thr892Lys) c.3638C>A (p.Thr1213Lys) | |
| 1 | g.197090345_197090346insATTTAGTTCTTCTATTGGTTCTAT | CA2525478832 | ASPM | n.2966_2967insATAGAACCAATAGAAGAACTAAAT c.9679_9680insATAGAACCAATAGAAGAACTAAAT (p.Thr3227delinsAsnArgThrAsnArgArgThrLysSer) c.9901_9902insATAGAACCAATAGAAGAACTAAAT (p.Thr3301delinsAsnArgThrAsnArgArgThrLysSer) c.9655_9656insATAGAACCAATAGAAGAACTAAAT (p.Thr3219delinsAsnArgThrAsnArgArgThrLysSer) c.4924_4925insATAGAACCAATAGAAGAACTAAAT (p.Thr1642delinsAsnArgThrAsnArgArgThrLysSer) c.2674_2675insATAGAACCAATAGAAGAACTAAAT (p.Thr892delinsAsnArgThrAsnArgArgThrLysSer) c.3637_3638insATAGAACCAATAGAAGAACTAAAT (p.Thr1213delinsAsnArgThrAsnArgArgThrLysSer) | |
| 1 | g.197090346T>A | CA344001929 | ASPM | n.2966A>T c.9679A>T (p.Thr3227Ser) c.9901A>T (p.Thr3301Ser) c.9655A>T (p.Thr3219Ser) c.4924A>T (p.Thr1642Ser) c.2674A>T (p.Thr892Ser) c.3637A>T (p.Thr1213Ser) | |
| 1 | g.197090346T>C | CA344001930 | ASPM | n.2966A>G c.9679A>G (p.Thr3227Ala) c.9901A>G (p.Thr3301Ala) c.9655A>G (p.Thr3219Ala) c.4924A>G (p.Thr1642Ala) c.2674A>G (p.Thr892Ala) c.3637A>G (p.Thr1213Ala) | gnomAD v4 |
| 1 | g.197090346T>G | CA35862017 | ASPM | n.2966A>C c.9679A>C (p.Thr3227Pro) c.9901A>C (p.Thr3301Pro) c.9655A>C (p.Thr3219Pro) c.4924A>C (p.Thr1642Pro) c.2674A>C (p.Thr892Pro) c.3637A>C (p.Thr1213Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090346T= | CA1217925315 | ASPM | n.2966A= c.9679A= (p.Thr3227=) c.9901A= (p.Thr3301=) c.9655A= (p.Thr3219=) c.4924A= (p.Thr1642=) c.2674A= (p.Thr892=) c.3637A= (p.Thr1213=) | |
| 1 | g.197090347A= | CA1217925317 | ASPM | n.2965T= c.9678T= (p.Cys3226=) c.9900T= (p.Cys3300=) c.9654T= (p.Cys3218=) c.4923T= (p.Cys1641=) c.2673T= (p.Cys891=) c.3636T= (p.Cys1212=) | |
| 1 | g.197090347A>C | CA344001931 | ASPM | n.2965T>G c.9678T>G (p.Cys3226Trp) c.9900T>G (p.Cys3300Trp) c.9654T>G (p.Cys3218Trp) c.4923T>G (p.Cys1641Trp) c.2673T>G (p.Cys891Trp) c.3636T>G (p.Cys1212Trp) | |
| 1 | g.197090347A>G | CA422672343 | ASPM | n.2965T>C c.9678T>C (p.Cys3226=) c.9900T>C (p.Cys3300=) c.9654T>C (p.Cys3218=) c.4923T>C (p.Cys1641=) c.2673T>C (p.Cys891=) c.3636T>C (p.Cys1212=) | gnomAD v4 |
| 1 | g.197090347A>T | CA344001932 | ASPM | n.2965T>A c.9678T>A (p.Cys3226Ter) c.9900T>A (p.Cys3300Ter) c.9654T>A (p.Cys3218Ter) c.4923T>A (p.Cys1641Ter) c.2673T>A (p.Cys891Ter) c.3636T>A (p.Cys1212Ter) | |
| 1 | g.197090348C>A | CA35862025 | ASPM | n.2964G>T c.9677G>T (p.Cys3226Phe) c.9899G>T (p.Cys3300Phe) c.9653G>T (p.Cys3218Phe) c.4922G>T (p.Cys1641Phe) c.2672G>T (p.Cys891Phe) c.3635G>T (p.Cys1212Phe) | dbSNP gnomAD v4 |
| 1 | g.197090348C= | CA1142364457 | ASPM | n.2964G= c.9677G= (p.Cys3226=) c.9899G= (p.Cys3300=) c.9653G= (p.Cys3218=) c.4922G= (p.Cys1641=) c.2672G= (p.Cys891=) c.3635G= (p.Cys1212=) | |
| 1 | g.197090348C>G | CA344001933 | ASPM | n.2964G>C c.9677G>C (p.Cys3226Ser) c.9899G>C (p.Cys3300Ser) c.9653G>C (p.Cys3218Ser) c.4922G>C (p.Cys1641Ser) c.2672G>C (p.Cys891Ser) c.3635G>C (p.Cys1212Ser) | |
| 1 | g.197090348C>T | CA344001934 | ASPM | n.2964G>A c.9677G>A (p.Cys3226Tyr) c.9899G>A (p.Cys3300Tyr) c.9653G>A (p.Cys3218Tyr) c.4922G>A (p.Cys1641Tyr) c.2672G>A (p.Cys891Tyr) c.3635G>A (p.Cys1212Tyr) | gnomAD v4 |
| 1 | g.197090348dup | CA342304 | ASPM | n.2964dup c.9677dup (p.Cys3226TrpfsTer5) c.9899dup (p.Cys3300TrpfsTer5) c.9653dup (p.Cys3218TrpfsTer5) c.4922dup (p.Cys1641TrpfsTer5) c.2672dup (p.Cys891TrpfsTer5) c.3635dup (p.Cys1212TrpfsTer5) | ClinVar dbSNP |
| 1 | g.197090350_197090353del | CA2649660643 | ASPM | n.2961_2964del c.9674_9677del (p.Asp3225ValfsTer9) c.9896_9899del (p.Asp3299ValfsTer9) c.9650_9653del (p.Asp3217ValfsTer9) c.4919_4922del (p.Asp1640ValfsTer9) c.2669_2672del (p.Asp890ValfsTer9) c.3632_3635del (p.Asp1211ValfsTer9) | gnomAD v4 |
| 1 | g.197090349A= | CA1141896007 | ASPM | n.2963T= c.9676T= (p.Cys3226=) c.9898T= (p.Cys3300=) c.9652T= (p.Cys3218=) c.4921T= (p.Cys1641=) c.2671T= (p.Cys891=) c.3634T= (p.Cys1212=) | |
| 1 | g.197090349A>C | CA1308881 | ASPM | n.2963T>G c.9676T>G (p.Cys3226Gly) c.9898T>G (p.Cys3300Gly) c.9652T>G (p.Cys3218Gly) c.4921T>G (p.Cys1641Gly) c.2671T>G (p.Cys891Gly) c.3634T>G (p.Cys1212Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090349A>G | CA344001935 | ASPM | n.2963T>C c.9676T>C (p.Cys3226Arg) c.9898T>C (p.Cys3300Arg) c.9652T>C (p.Cys3218Arg) c.4921T>C (p.Cys1641Arg) c.2671T>C (p.Cys891Arg) c.3634T>C (p.Cys1212Arg) | gnomAD v4 |
| 1 | g.197090349A>T | CA344001936 | ASPM | n.2963T>A c.9676T>A (p.Cys3226Ser) c.9898T>A (p.Cys3300Ser) c.9652T>A (p.Cys3218Ser) c.4921T>A (p.Cys1641Ser) c.2671T>A (p.Cys891Ser) c.3634T>A (p.Cys1212Ser) | |
| 1 | g.197090350A= | CA1148878277 | ASPM | n.2962T= c.9675T= (p.Asp3225=) c.9897T= (p.Asp3299=) c.9651T= (p.Asp3217=) c.4920T= (p.Asp1640=) c.2670T= (p.Asp890=) c.3633T= (p.Asp1211=) | |
| 1 | g.197090350A>C | CA344001937 | ASPM | n.2962T>G c.9675T>G (p.Asp3225Glu) c.9897T>G (p.Asp3299Glu) c.9651T>G (p.Asp3217Glu) c.4920T>G (p.Asp1640Glu) c.2670T>G (p.Asp890Glu) c.3633T>G (p.Asp1211Glu) | gnomAD v4 |
| 1 | g.197090350A>G | CA35862030 | ASPM | n.2962T>C c.9675T>C (p.Asp3225=) c.9897T>C (p.Asp3299=) c.9651T>C (p.Asp3217=) c.4920T>C (p.Asp1640=) c.2670T>C (p.Asp890=) c.3633T>C (p.Asp1211=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.197090350A>T | CA1308882 | ASPM | n.2962T>A c.9675T>A (p.Asp3225Glu) c.9897T>A (p.Asp3299Glu) c.9651T>A (p.Asp3217Glu) c.4920T>A (p.Asp1640Glu) c.2670T>A (p.Asp890Glu) c.3633T>A (p.Asp1211Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197090351T>A | CA344001940 | ASPM | n.2961A>T c.9674A>T (p.Asp3225Val) c.9896A>T (p.Asp3299Val) c.9650A>T (p.Asp3217Val) c.4919A>T (p.Asp1640Val) c.2669A>T (p.Asp890Val) c.3632A>T (p.Asp1211Val) | |
| 1 | g.197090351T>C | CA344001942 | ASPM | n.2961A>G c.9674A>G (p.Asp3225Gly) c.9896A>G (p.Asp3299Gly) c.9650A>G (p.Asp3217Gly) c.4919A>G (p.Asp1640Gly) c.2669A>G (p.Asp890Gly) c.3632A>G (p.Asp1211Gly) | gnomAD v4 |
| 1 | g.197090351T>G | CA344001943 | ASPM | n.2961A>C c.9674A>C (p.Asp3225Ala) c.9896A>C (p.Asp3299Ala) c.9650A>C (p.Asp3217Ala) c.4919A>C (p.Asp1640Ala) c.2669A>C (p.Asp890Ala) c.3632A>C (p.Asp1211Ala) | |
| 1 | g.197090352del | CA2515381945 | ASPM | n.2960del c.9673del (p.Asp3225IlefsTer10) c.9895del (p.Asp3299IlefsTer10) c.9649del (p.Asp3217IlefsTer10) c.4918del (p.Asp1640IlefsTer10) c.2668del (p.Asp890IlefsTer10) c.3631del (p.Asp1211IlefsTer10) | |
| 1 | g.197090352C>A | CA344001944 | ASPM | n.2960G>T c.9673G>T (p.Asp3225Tyr) c.9895G>T (p.Asp3299Tyr) c.9649G>T (p.Asp3217Tyr) c.4918G>T (p.Asp1640Tyr) c.2668G>T (p.Asp890Tyr) c.3631G>T (p.Asp1211Tyr) | dbSNP gnomAD v4 |
| 1 | g.197090352C= | CA1217925322 | ASPM | n.2960G= c.9673G= (p.Asp3225=) c.9895G= (p.Asp3299=) c.9649G= (p.Asp3217=) c.4918G= (p.Asp1640=) c.2668G= (p.Asp890=) c.3631G= (p.Asp1211=) | |
| 1 | g.197090352C>G | CA344001945 | ASPM | n.2960G>C c.9673G>C (p.Asp3225His) c.9895G>C (p.Asp3299His) c.9649G>C (p.Asp3217His) c.4918G>C (p.Asp1640His) c.2668G>C (p.Asp890His) c.3631G>C (p.Asp1211His) | |
| 1 | g.197090352C>T | CA344001947 | ASPM | n.2960G>A c.9673G>A (p.Asp3225Asn) c.9895G>A (p.Asp3299Asn) c.9649G>A (p.Asp3217Asn) c.4918G>A (p.Asp1640Asn) c.2668G>A (p.Asp890Asn) c.3631G>A (p.Asp1211Asn) | |
| 1 | g.197090353A>C | CA344001949 | ASPM | n.2959T>G c.9672T>G (p.Asn3224Lys) c.9894T>G (p.Asn3298Lys) c.9648T>G (p.Asn3216Lys) c.4917T>G (p.Asn1639Lys) c.2667T>G (p.Asn889Lys) c.3630T>G (p.Asn1210Lys) | |
| 1 | g.197090353A>G | CA422672347 | ASPM | n.2959T>C c.9672T>C (p.Asn3224=) c.9894T>C (p.Asn3298=) c.9648T>C (p.Asn3216=) c.4917T>C (p.Asn1639=) c.2667T>C (p.Asn889=) c.3630T>C (p.Asn1210=) | |
| 1 | g.197090353A>T | CA344001950 | ASPM | n.2959T>A c.9672T>A (p.Asn3224Lys) c.9894T>A (p.Asn3298Lys) c.9648T>A (p.Asn3216Lys) c.4917T>A (p.Asn1639Lys) c.2667T>A (p.Asn889Lys) c.3630T>A (p.Asn1210Lys) | |
| 1 | g.197090354T>A | CA344001953 | ASPM | n.2958A>T c.9671A>T (p.Asn3224Ile) c.9893A>T (p.Asn3298Ile) c.9647A>T (p.Asn3216Ile) c.4916A>T (p.Asn1639Ile) c.2666A>T (p.Asn889Ile) c.3629A>T (p.Asn1210Ile) | |
| 1 | g.197090354T>C | CA344001958 | ASPM | n.2958A>G c.9671A>G (p.Asn3224Ser) c.9893A>G (p.Asn3298Ser) c.9647A>G (p.Asn3216Ser) c.4916A>G (p.Asn1639Ser) c.2666A>G (p.Asn889Ser) c.3629A>G (p.Asn1210Ser) | |
| 1 | g.197090354T>G | CA344001959 | ASPM | n.2958A>C c.9671A>C (p.Asn3224Thr) c.9893A>C (p.Asn3298Thr) c.9647A>C (p.Asn3216Thr) c.4916A>C (p.Asn1639Thr) c.2666A>C (p.Asn889Thr) c.3629A>C (p.Asn1210Thr) | |
| 1 | g.197090355T>A | CA344001965 | ASPM | n.2957A>T c.9670A>T (p.Asn3224Tyr) c.9892A>T (p.Asn3298Tyr) c.9646A>T (p.Asn3216Tyr) c.4915A>T (p.Asn1639Tyr) c.2665A>T (p.Asn889Tyr) c.3628A>T (p.Asn1210Tyr) | |
| 1 | g.197090355T>C | CA344001963 | ASPM | n.2957A>G c.9670A>G (p.Asn3224Asp) c.9892A>G (p.Asn3298Asp) c.9646A>G (p.Asn3216Asp) c.4915A>G (p.Asn1639Asp) c.2665A>G (p.Asn889Asp) c.3628A>G (p.Asn1210Asp) | |
| 1 | g.197090355T>G | CA344001961 | ASPM | n.2957A>C c.9670A>C (p.Asn3224His) c.9892A>C (p.Asn3298His) c.9646A>C (p.Asn3216His) c.4915A>C (p.Asn1639His) c.2665A>C (p.Asn889His) c.3628A>C (p.Asn1210His) | |
| 1 | g.197090356T>A | CA344001968 | ASPM | n.2956A>T c.9669A>T (p.Lys3223Asn) c.9891A>T (p.Lys3297Asn) c.9645A>T (p.Lys3215Asn) c.4914A>T (p.Lys1638Asn) c.2664A>T (p.Lys888Asn) c.3627A>T (p.Lys1209Asn) |