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.197090244A= | CA1149113437 | ASPM | n.3068T= c.9781T= (p.Leu3261=) c.10003T= (p.Leu3335=) c.9757T= (p.Leu3253=) c.5026T= (p.Leu1676=) c.2776T= (p.Leu926=) c.3739T= (p.Leu1247=) | |
| 1 | g.197090244A>C | CA1308865 | ASPM | n.3068T>G c.9781T>G (p.Leu3261Val) c.10003T>G (p.Leu3335Val) c.9757T>G (p.Leu3253Val) c.5026T>G (p.Leu1676Val) c.2776T>G (p.Leu926Val) c.3739T>G (p.Leu1247Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090244A>G | CA422805243 | ASPM | n.3068T>C c.9781T>C (p.Leu3261=) c.10003T>C (p.Leu3335=) c.9757T>C (p.Leu3253=) c.5026T>C (p.Leu1676=) c.2776T>C (p.Leu926=) c.3739T>C (p.Leu1247=) | |
| 1 | g.197090244A>T | CA344001713 | ASPM | n.3068T>A c.9781T>A (p.Leu3261Met) c.10003T>A (p.Leu3335Met) c.9757T>A (p.Leu3253Met) c.5026T>A (p.Leu1676Met) c.2776T>A (p.Leu926Met) c.3739T>A (p.Leu1247Met) | |
| 1 | g.197090245A= | CA1217925164 | ASPM | n.3067T= c.9780T= (p.Leu3260=) c.10002T= (p.Leu3334=) c.9756T= (p.Leu3252=) c.5025T= (p.Leu1675=) c.2775T= (p.Leu925=) c.3738T= (p.Leu1246=) | |
| 1 | g.197090245A>C | CA422805244 | ASPM | n.3067T>G c.9780T>G (p.Leu3260=) c.10002T>G (p.Leu3334=) c.9756T>G (p.Leu3252=) c.5025T>G (p.Leu1675=) c.2775T>G (p.Leu925=) c.3738T>G (p.Leu1246=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090245A>G | CA422805245 | ASPM | n.3067T>C c.9780T>C (p.Leu3260=) c.10002T>C (p.Leu3334=) c.9756T>C (p.Leu3252=) c.5025T>C (p.Leu1675=) c.2775T>C (p.Leu925=) c.3738T>C (p.Leu1246=) | |
| 1 | g.197090245A>T | CA422805247 | ASPM | n.3067T>A c.9780T>A (p.Leu3260=) c.10002T>A (p.Leu3334=) c.9756T>A (p.Leu3252=) c.5025T>A (p.Leu1675=) c.2775T>A (p.Leu925=) c.3738T>A (p.Leu1246=) | |
| 1 | g.197090246A>C | CA344001714 | ASPM | n.3066T>G c.9779T>G (p.Leu3260Arg) c.10001T>G (p.Leu3334Arg) c.9755T>G (p.Leu3252Arg) c.5024T>G (p.Leu1675Arg) c.2774T>G (p.Leu925Arg) c.3737T>G (p.Leu1246Arg) | |
| 1 | g.197090246A>G | CA344001716 | ASPM | n.3066T>C c.9779T>C (p.Leu3260Pro) c.10001T>C (p.Leu3334Pro) c.9755T>C (p.Leu3252Pro) c.5024T>C (p.Leu1675Pro) c.2774T>C (p.Leu925Pro) c.3737T>C (p.Leu1246Pro) | |
| 1 | g.197090246A>T | CA344001715 | ASPM | n.3066T>A c.9779T>A (p.Leu3260His) c.10001T>A (p.Leu3334His) c.9755T>A (p.Leu3252His) c.5024T>A (p.Leu1675His) c.2774T>A (p.Leu925His) c.3737T>A (p.Leu1246His) | |
| 1 | g.197090247G>A | CA344001717 | ASPM | n.3065C>T c.9778C>T (p.Leu3260Phe) c.10000C>T (p.Leu3334Phe) c.9754C>T (p.Leu3252Phe) c.5023C>T (p.Leu1675Phe) c.2773C>T (p.Leu925Phe) c.3736C>T (p.Leu1246Phe) | gnomAD v4 |
| 1 | g.197090247G>C | CA344001718 | ASPM | n.3065C>G c.9778C>G (p.Leu3260Val) c.10000C>G (p.Leu3334Val) c.9754C>G (p.Leu3252Val) c.5023C>G (p.Leu1675Val) c.2773C>G (p.Leu925Val) c.3736C>G (p.Leu1246Val) | |
| 1 | g.197090247G>T | CA344001719 | ASPM | n.3065C>A c.9778C>A (p.Leu3260Ile) c.10000C>A (p.Leu3334Ile) c.9754C>A (p.Leu3252Ile) c.5023C>A (p.Leu1675Ile) c.2773C>A (p.Leu925Ile) c.3736C>A (p.Leu1246Ile) | |
| 1 | g.197090248G>A | CA422805251 | ASPM | n.3064C>T c.9777C>T (p.Tyr3259=) c.9999C>T (p.Tyr3333=) c.9753C>T (p.Tyr3251=) c.5022C>T (p.Tyr1674=) c.2772C>T (p.Tyr924=) c.3735C>T (p.Tyr1245=) | |
| 1 | g.197090248G>C | CA344001720 | ASPM | n.3064C>G c.9777C>G (p.Tyr3259Ter) c.9999C>G (p.Tyr3333Ter) c.9753C>G (p.Tyr3251Ter) c.5022C>G (p.Tyr1674Ter) c.2772C>G (p.Tyr924Ter) c.3735C>G (p.Tyr1245Ter) | |
| 1 | g.197090248G>T | CA344001721 | ASPM | n.3064C>A c.9777C>A (p.Tyr3259Ter) c.9999C>A (p.Tyr3333Ter) c.9753C>A (p.Tyr3251Ter) c.5022C>A (p.Tyr1674Ter) c.2772C>A (p.Tyr924Ter) c.3735C>A (p.Tyr1245Ter) | |
| 1 | g.197090249T>A | CA344001722 | ASPM | n.3063A>T c.9776A>T (p.Tyr3259Phe) c.9998A>T (p.Tyr3333Phe) c.9752A>T (p.Tyr3251Phe) c.5021A>T (p.Tyr1674Phe) c.2771A>T (p.Tyr924Phe) c.3734A>T (p.Tyr1245Phe) | |
| 1 | g.197090249T>C | CA35861945 | ASPM | n.3063A>G c.9776A>G (p.Tyr3259Cys) c.9998A>G (p.Tyr3333Cys) c.9752A>G (p.Tyr3251Cys) c.5021A>G (p.Tyr1674Cys) c.2771A>G (p.Tyr924Cys) c.3734A>G (p.Tyr1245Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090249T>G | CA344001723 | ASPM | n.3063A>C c.9776A>C (p.Tyr3259Ser) c.9998A>C (p.Tyr3333Ser) c.9752A>C (p.Tyr3251Ser) c.5021A>C (p.Tyr1674Ser) c.2771A>C (p.Tyr924Ser) c.3734A>C (p.Tyr1245Ser) | |
| 1 | g.197090249T= | CA1217925166 | ASPM | n.3063A= c.9776A= (p.Tyr3259=) c.9998A= (p.Tyr3333=) c.9752A= (p.Tyr3251=) c.5021A= (p.Tyr1674=) c.2771A= (p.Tyr924=) c.3734A= (p.Tyr1245=) | |
| 1 | g.197090250A>C | CA344001724 | ASPM | n.3062T>G c.9775T>G (p.Tyr3259Asp) c.9997T>G (p.Tyr3333Asp) c.9751T>G (p.Tyr3251Asp) c.5020T>G (p.Tyr1674Asp) c.2770T>G (p.Tyr924Asp) c.3733T>G (p.Tyr1245Asp) | |
| 1 | g.197090250A>G | CA344001725 | ASPM | n.3062T>C c.9775T>C (p.Tyr3259His) c.9997T>C (p.Tyr3333His) c.9751T>C (p.Tyr3251His) c.5020T>C (p.Tyr1674His) c.2770T>C (p.Tyr924His) c.3733T>C (p.Tyr1245His) | |
| 1 | g.197090250A>T | CA344001726 | ASPM | n.3062T>A c.9775T>A (p.Tyr3259Asn) c.9997T>A (p.Tyr3333Asn) c.9751T>A (p.Tyr3251Asn) c.5020T>A (p.Tyr1674Asn) c.2770T>A (p.Tyr924Asn) c.3733T>A (p.Tyr1245Asn) | |
| 1 | g.197090250_197090251insGTTTTTCATTTT | CA2558727805 | ASPM | n.3061_3062insAAAATGAAAAAC c.9774_9775insAAAATGAAAAAC (p.His3258_Tyr3259insLysMetLysAsn) c.9996_9997insAAAATGAAAAAC (p.His3332_Tyr3333insLysMetLysAsn) c.9750_9751insAAAATGAAAAAC (p.His3250_Tyr3251insLysMetLysAsn) c.5019_5020insAAAATGAAAAAC (p.His1673_Tyr1674insLysMetLysAsn) c.2769_2770insAAAATGAAAAAC (p.His923_Tyr924insLysMetLysAsn) c.3732_3733insAAAATGAAAAAC (p.His1244_Tyr1245insLysMetLysAsn) | |
| 1 | g.197090251A>C | CA344001727 | ASPM | n.3061T>G c.9774T>G (p.His3258Gln) c.9996T>G (p.His3332Gln) c.9750T>G (p.His3250Gln) c.5019T>G (p.His1673Gln) c.2769T>G (p.His923Gln) c.3732T>G (p.His1244Gln) | |
| 1 | g.197090251A>G | CA422805260 | ASPM | n.3061T>C c.9774T>C (p.His3258=) c.9996T>C (p.His3332=) c.9750T>C (p.His3250=) c.5019T>C (p.His1673=) c.2769T>C (p.His923=) c.3732T>C (p.His1244=) | gnomAD v4 |
| 1 | g.197090251A>T | CA344001728 | ASPM | n.3061T>A c.9774T>A (p.His3258Gln) c.9996T>A (p.His3332Gln) c.9750T>A (p.His3250Gln) c.5019T>A (p.His1673Gln) c.2769T>A (p.His923Gln) c.3732T>A (p.His1244Gln) | COSMIC |
| 1 | g.197090252T>A | CA344001729 | ASPM | n.3060A>T c.9773A>T (p.His3258Leu) c.9995A>T (p.His3332Leu) c.9749A>T (p.His3250Leu) c.5018A>T (p.His1673Leu) c.2768A>T (p.His923Leu) c.3731A>T (p.His1244Leu) | |
| 1 | g.197090252T>C | CA171281 | ASPM | n.3060A>G c.9773A>G (p.His3258Arg) c.9995A>G (p.His3332Arg) c.9749A>G (p.His3250Arg) c.5018A>G (p.His1673Arg) c.2768A>G (p.His923Arg) c.3731A>G (p.His1244Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090252T>G | CA35861951 | ASPM | n.3060A>C c.9773A>C (p.His3258Pro) c.9995A>C (p.His3332Pro) c.9749A>C (p.His3250Pro) c.5018A>C (p.His1673Pro) c.2768A>C (p.His923Pro) c.3731A>C (p.His1244Pro) | dbSNP |
| 1 | g.197090252T= | CA1140137432 | ASPM | n.3060A= c.9773A= (p.His3258=) c.9995A= (p.His3332=) c.9749A= (p.His3250=) c.5018A= (p.His1673=) c.2768A= (p.His923=) c.3731A= (p.His1244=) | |
| 1 | g.197090253G>A | CA344001730 | ASPM | n.3059C>T c.9772C>T (p.His3258Tyr) c.9994C>T (p.His3332Tyr) c.9748C>T (p.His3250Tyr) c.5017C>T (p.His1673Tyr) c.2767C>T (p.His923Tyr) c.3730C>T (p.His1244Tyr) | dbSNP gnomAD v4 |
| 1 | g.197090253G>C | CA344001731 | ASPM | n.3059C>G c.9772C>G (p.His3258Asp) c.9994C>G (p.His3332Asp) c.9748C>G (p.His3250Asp) c.5017C>G (p.His1673Asp) c.2767C>G (p.His923Asp) c.3730C>G (p.His1244Asp) | |
| 1 | g.197090253G= | CA1217925176 | ASPM | n.3059C= c.9772C= (p.His3258=) c.9994C= (p.His3332=) c.9748C= (p.His3250=) c.5017C= (p.His1673=) c.2767C= (p.His923=) c.3730C= (p.His1244=) | |
| 1 | g.197090253G>T | CA344001732 | ASPM | n.3059C>A c.9772C>A (p.His3258Asn) c.9994C>A (p.His3332Asn) c.9748C>A (p.His3250Asn) c.5017C>A (p.His1673Asn) c.2767C>A (p.His923Asn) c.3730C>A (p.His1244Asn) | gnomAD v3 gnomAD v4 |
| 1 | g.197090254A>C | CA422805272 | ASPM | n.3058T>G c.9771T>G (p.Leu3257=) c.9993T>G (p.Leu3331=) c.9747T>G (p.Leu3249=) c.5016T>G (p.Leu1672=) c.2766T>G (p.Leu922=) c.3729T>G (p.Leu1243=) | |
| 1 | g.197090254A>G | CA422805267 | ASPM | n.3058T>C c.9771T>C (p.Leu3257=) c.9993T>C (p.Leu3331=) c.9747T>C (p.Leu3249=) c.5016T>C (p.Leu1672=) c.2766T>C (p.Leu922=) c.3729T>C (p.Leu1243=) | |
| 1 | g.197090254A>T | CA422805269 | ASPM | n.3058T>A c.9771T>A (p.Leu3257=) c.9993T>A (p.Leu3331=) c.9747T>A (p.Leu3249=) c.5016T>A (p.Leu1672=) c.2766T>A (p.Leu922=) c.3729T>A (p.Leu1243=) | |
| 1 | g.197090255A= | CA1217925177 | ASPM | n.3057T= c.9770T= (p.Leu3257=) c.9992T= (p.Leu3331=) c.9746T= (p.Leu3249=) c.5015T= (p.Leu1672=) c.2765T= (p.Leu922=) c.3728T= (p.Leu1243=) | |
| 1 | g.197090255A>C | CA344001733 | ASPM | n.3057T>G c.9770T>G (p.Leu3257Arg) c.9992T>G (p.Leu3331Arg) c.9746T>G (p.Leu3249Arg) c.5015T>G (p.Leu1672Arg) c.2765T>G (p.Leu922Arg) c.3728T>G (p.Leu1243Arg) | |
| 1 | g.197090255A>G | CA344001734 | ASPM | n.3057T>C c.9770T>C (p.Leu3257Pro) c.9992T>C (p.Leu3331Pro) c.9746T>C (p.Leu3249Pro) c.5015T>C (p.Leu1672Pro) c.2765T>C (p.Leu922Pro) c.3728T>C (p.Leu1243Pro) | |
| 1 | g.197090255A>T | CA344001735 | ASPM | n.3057T>A c.9770T>A (p.Leu3257His) c.9992T>A (p.Leu3331His) c.9746T>A (p.Leu3249His) c.5015T>A (p.Leu1672His) c.2765T>A (p.Leu922His) c.3728T>A (p.Leu1243His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090255_197090258del | CA2649660638 | ASPM | n.3054_3057del c.9767_9770del (p.Ala3256ValfsTer5) c.9989_9992del (p.Ala3330ValfsTer5) c.9743_9746del (p.Ala3248ValfsTer5) c.5012_5015del (p.Ala1671ValfsTer5) c.2762_2765del (p.Ala921ValfsTer5) c.3725_3728del (p.Ala1242ValfsTer5) | gnomAD v4 |
| 1 | g.197090256G>A | CA344001736 | ASPM | n.3056C>T c.9769C>T (p.Leu3257Phe) c.9991C>T (p.Leu3331Phe) c.9745C>T (p.Leu3249Phe) c.5014C>T (p.Leu1672Phe) c.2764C>T (p.Leu922Phe) c.3727C>T (p.Leu1243Phe) | dbSNP |
| 1 | g.197090256G>C | CA344001737 | ASPM | n.3056C>G c.9769C>G (p.Leu3257Val) c.9991C>G (p.Leu3331Val) c.9745C>G (p.Leu3249Val) c.5014C>G (p.Leu1672Val) c.2764C>G (p.Leu922Val) c.3727C>G (p.Leu1243Val) | |
| 1 | g.197090256G= | CA1217925180 | ASPM | n.3056C= c.9769C= (p.Leu3257=) c.9991C= (p.Leu3331=) c.9745C= (p.Leu3249=) c.5014C= (p.Leu1672=) c.2764C= (p.Leu922=) c.3727C= (p.Leu1243=) | |
| 1 | g.197090256G>T | CA344001738 | ASPM | n.3056C>A c.9769C>A (p.Leu3257Ile) c.9991C>A (p.Leu3331Ile) c.9745C>A (p.Leu3249Ile) c.5014C>A (p.Leu1672Ile) c.2764C>A (p.Leu922Ile) c.3727C>A (p.Leu1243Ile) | |
| 1 | g.197090257T>A | CA422805277 | ASPM | n.3055A>T c.9768A>T (p.Ala3256=) c.9990A>T (p.Ala3330=) c.9744A>T (p.Ala3248=) c.5013A>T (p.Ala1671=) c.2763A>T (p.Ala921=) c.3726A>T (p.Ala1242=) | |
| 1 | g.197090257T>C | CA422805278 | ASPM | n.3055A>G c.9768A>G (p.Ala3256=) c.9990A>G (p.Ala3330=) c.9744A>G (p.Ala3248=) c.5013A>G (p.Ala1671=) c.2763A>G (p.Ala921=) c.3726A>G (p.Ala1242=) |