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 |
|---|---|---|---|---|---|
| 9 | g.127672104del | CA1139661191 | STXBP1 | c.975del (p.Glu326SerfsTer16) c.1017del (p.Glu340SerfsTer16) c.*659del (n.*659del) c.*1881del (n.*1881del) c.959del n.853del c.1008del (p.Glu337SerfsTer16) c.909del (p.Glu304SerfsTer16) | ClinVar dbSNP |
| 9 | g.127672104A= | CA1879916853 | STXBP1 | c.975A= (p.Lys325=) c.1017A= (p.Lys339=) c.*659A= (n.*659A=) c.*1881A= (n.*1881A=) c.959A= n.853A= c.1008A= (p.Lys336=) c.909A= (p.Lys303=) | |
| 9 | g.127672104A>C | CA374935968 | STXBP1 | c.975A>C (p.Lys325Asn) c.1017A>C (p.Lys339Asn) c.*659A>C (n.*659A>C) c.*1881A>C (n.*1881A>C) c.959A>C n.853A>C c.1008A>C (p.Lys336Asn) c.909A>C (p.Lys303Asn) | |
| 9 | g.127672104A>G | CA467229201 | STXBP1 | c.975A>G (p.Lys325=) c.1017A>G (p.Lys339=) c.*659A>G (n.*659A>G) c.*1881A>G (n.*1881A>G) c.959A>G n.853A>G c.1008A>G (p.Lys336=) c.909A>G (p.Lys303=) | ClinVar dbSNP |
| 9 | g.127672104A>T | CA374935970 | STXBP1 | c.975A>T (p.Lys325Asn) c.1017A>T (p.Lys339Asn) c.*659A>T (n.*659A>T) c.*1881A>T (n.*1881A>T) c.959A>T n.853A>T c.1008A>T (p.Lys336Asn) c.909A>T (p.Lys303Asn) | |
| 9 | g.127672106_127672107del | CA2695211370 | STXBP1 | c.977_978del (p.Glu326AlafsTer12) c.1019_1020del (p.Glu340AlafsTer12) c.*661_*662del (n.*661_*662del) c.*1883_*1884del (n.*1883_*1884del) c.961_962del n.855_856del c.1010_1011del (p.Glu337AlafsTer12) c.911_912del (p.Glu304AlafsTer12) | |
| 9 | g.127672105G>A | CA374935972 | STXBP1 | c.976G>A (p.Glu326Lys) c.1018G>A (p.Glu340Lys) c.*660G>A (n.*660G>A) c.*1882G>A (n.*1882G>A) c.960G>A n.854G>A c.1009G>A (p.Glu337Lys) c.910G>A (p.Glu304Lys) | |
| 9 | g.127672105G>C | CA374935974 | STXBP1 | c.976G>C (p.Glu326Gln) c.1018G>C (p.Glu340Gln) c.*660G>C (n.*660G>C) c.*1882G>C (n.*1882G>C) c.960G>C n.854G>C c.1009G>C (p.Glu337Gln) c.910G>C (p.Glu304Gln) | |
| 9 | g.127672105G>T | CA374935975 | STXBP1 | c.976G>T (p.Glu326Ter) c.1018G>T (p.Glu340Ter) c.*660G>T (n.*660G>T) c.*1882G>T (n.*1882G>T) c.960G>T n.854G>T c.1009G>T (p.Glu337Ter) c.910G>T (p.Glu304Ter) | |
| 9 | g.127672106A>C | CA374935976 | STXBP1 | c.977A>C (p.Glu326Ala) c.1019A>C (p.Glu340Ala) c.*661A>C (n.*661A>C) c.*1883A>C (n.*1883A>C) c.961A>C n.855A>C c.1010A>C (p.Glu337Ala) c.911A>C (p.Glu304Ala) | |
| 9 | g.127672106A>G | CA374935978 | STXBP1 | c.977A>G (p.Glu326Gly) c.1019A>G (p.Glu340Gly) c.*661A>G (n.*661A>G) c.*1883A>G (n.*1883A>G) c.961A>G n.855A>G c.1010A>G (p.Glu337Gly) c.911A>G (p.Glu304Gly) | |
| 9 | g.127672106A>T | CA374935979 | STXBP1 | c.977A>T (p.Glu326Val) c.1019A>T (p.Glu340Val) c.*661A>T (n.*661A>T) c.*1883A>T (n.*1883A>T) c.961A>T n.855A>T c.1010A>T (p.Glu337Val) c.911A>T (p.Glu304Val) | |
| 9 | g.127672107G>A | CA467229215 | STXBP1 | c.978G>A (p.Glu326=) c.1020G>A (p.Glu340=) c.*662G>A (n.*662G>A) c.*1884G>A (n.*1884G>A) c.962G>A n.856G>A c.1011G>A (p.Glu337=) c.912G>A (p.Glu304=) | gnomAD v4 |
| 9 | g.127672107G>C | CA374935981 | STXBP1 | c.978G>C (p.Glu326Asp) c.1020G>C (p.Glu340Asp) c.*662G>C (n.*662G>C) c.*1884G>C (n.*1884G>C) c.962G>C n.856G>C c.1011G>C (p.Glu337Asp) c.912G>C (p.Glu304Asp) | |
| 9 | g.127672107G>T | CA374935983 | STXBP1 | c.978G>T (p.Glu326Asp) c.1020G>T (p.Glu340Asp) c.*662G>T (n.*662G>T) c.*1884G>T (n.*1884G>T) c.962G>T n.856G>T c.1011G>T (p.Glu337Asp) c.912G>T (p.Glu304Asp) | |
| 9 | g.127672108C>A | CA374935988 | STXBP1 | c.979C>A (p.Leu327Ile) c.1021C>A (p.Leu341Ile) c.*663C>A (n.*663C>A) c.*1885C>A (n.*1885C>A) c.963C>A n.857C>A c.1012C>A (p.Leu338Ile) c.913C>A (p.Leu305Ile) | |
| 9 | g.127672108C>G | CA374935986 | STXBP1 | c.979C>G (p.Leu327Val) c.1021C>G (p.Leu341Val) c.*663C>G (n.*663C>G) c.*1885C>G (n.*1885C>G) c.963C>G n.857C>G c.1012C>G (p.Leu338Val) c.913C>G (p.Leu305Val) | |
| 9 | g.127672108C>T | CA374935984 | STXBP1 | c.979C>T (p.Leu327Phe) c.1021C>T (p.Leu341Phe) c.*663C>T (n.*663C>T) c.*1885C>T (n.*1885C>T) c.963C>T n.857C>T c.1012C>T (p.Leu338Phe) c.913C>T (p.Leu305Phe) | |
| 9 | g.127672109T>A | CA374935990 | STXBP1 | c.980T>A (p.Leu327His) c.1022T>A (p.Leu341His) c.*664T>A (n.*664T>A) c.*1886T>A (n.*1886T>A) c.964T>A n.858T>A c.1013T>A (p.Leu338His) c.914T>A (p.Leu305His) | |
| 9 | g.127672109T>C | CA374935992 | STXBP1 | c.980T>C (p.Leu327Pro) c.1022T>C (p.Leu341Pro) c.*664T>C (n.*664T>C) c.*1886T>C (n.*1886T>C) c.964T>C n.858T>C c.1013T>C (p.Leu338Pro) c.914T>C (p.Leu305Pro) | |
| 9 | g.127672109T>G | CA374935991 | STXBP1 | c.980T>G (p.Leu327Arg) c.1022T>G (p.Leu341Arg) c.*664T>G (n.*664T>G) c.*1886T>G (n.*1886T>G) c.964T>G n.858T>G c.1013T>G (p.Leu338Arg) c.914T>G (p.Leu305Arg) | |
| 9 | g.127672110C>A | CA467229226 | STXBP1 | c.981C>A (p.Leu327=) c.1023C>A (p.Leu341=) c.*665C>A (n.*665C>A) c.*1887C>A (n.*1887C>A) c.965C>A n.859C>A c.1014C>A (p.Leu338=) c.915C>A (p.Leu305=) | |
| 9 | g.127672110C>G | CA467229228 | STXBP1 | c.981C>G (p.Leu327=) c.1023C>G (p.Leu341=) c.*665C>G (n.*665C>G) c.*1887C>G (n.*1887C>G) c.965C>G n.859C>G c.1014C>G (p.Leu338=) c.915C>G (p.Leu305=) | |
| 9 | g.127672110C>T | CA467229230 | STXBP1 | c.981C>T (p.Leu327=) c.1023C>T (p.Leu341=) c.*665C>T (n.*665C>T) c.*1887C>T (n.*1887C>T) c.965C>T n.859C>T c.1014C>T (p.Leu338=) c.915C>T (p.Leu305=) | |
| 9 | g.127672111A>C | CA374935994 | STXBP1 | c.982A>C (p.Ser328Arg) c.1024A>C (p.Ser342Arg) c.*666A>C (n.*666A>C) c.*1888A>C (n.*1888A>C) c.966A>C n.860A>C c.1015A>C (p.Ser339Arg) c.916A>C (p.Ser306Arg) | |
| 9 | g.127672111A>G | CA374935996 | STXBP1 | c.982A>G (p.Ser328Gly) c.1024A>G (p.Ser342Gly) c.*666A>G (n.*666A>G) c.*1888A>G (n.*1888A>G) c.966A>G n.860A>G c.1015A>G (p.Ser339Gly) c.916A>G (p.Ser306Gly) | |
| 9 | g.127672111A>T | CA374935997 | STXBP1 | c.982A>T (p.Ser328Cys) c.1024A>T (p.Ser342Cys) c.*666A>T (n.*666A>T) c.*1888A>T (n.*1888A>T) c.966A>T n.860A>T c.1015A>T (p.Ser339Cys) c.916A>T (p.Ser306Cys) | |
| 9 | g.127672112G>A | CA5248441 | STXBP1 | c.983G>A (p.Ser328Asn) c.1025G>A (p.Ser342Asn) c.*667G>A (n.*667G>A) c.*1889G>A (n.*1889G>A) c.967G>A n.861G>A c.1016G>A (p.Ser339Asn) c.917G>A (p.Ser306Asn) | dbSNP ExAC gnomAD v2 |
| 9 | g.127672112G>C | CA374935999 | STXBP1 | c.983G>C (p.Ser328Thr) c.1025G>C (p.Ser342Thr) c.*667G>C (n.*667G>C) c.*1889G>C (n.*1889G>C) c.967G>C n.861G>C c.1016G>C (p.Ser339Thr) c.917G>C (p.Ser306Thr) | |
| 9 | g.127672112G= | CA1879916854 | STXBP1 | c.983G= (p.Ser328=) c.1025G= (p.Ser342=) c.*667G= (n.*667G=) c.*1889G= (n.*1889G=) c.967G= n.861G= c.1016G= (p.Ser339=) c.917G= (p.Ser306=) | |
| 9 | g.127672112G>T | CA374936000 | STXBP1 | c.983G>T (p.Ser328Ile) c.1025G>T (p.Ser342Ile) c.*667G>T (n.*667G>T) c.*1889G>T (n.*1889G>T) c.967G>T n.861G>T c.1016G>T (p.Ser339Ile) c.917G>T (p.Ser306Ile) | |
| 9 | g.127672113C>A | CA374936002 | STXBP1 | c.984C>A (p.Ser328Arg) c.1026C>A (p.Ser342Arg) c.*668C>A (n.*668C>A) c.*1890C>A (n.*1890C>A) c.968C>A n.862C>A c.1017C>A (p.Ser339Arg) c.918C>A (p.Ser306Arg) | |
| 9 | g.127672113C>G | CA374936003 | STXBP1 | c.984C>G (p.Ser328Arg) c.1026C>G (p.Ser342Arg) c.*668C>G (n.*668C>G) c.*1890C>G (n.*1890C>G) c.968C>G n.862C>G c.1017C>G (p.Ser339Arg) c.918C>G (p.Ser306Arg) | |
| 9 | g.127672113C>T | CA467229246 | STXBP1 | c.984C>T (p.Ser328=) c.1026C>T (p.Ser342=) c.*668C>T (n.*668C>T) c.*1890C>T (n.*1890C>T) c.968C>T n.862C>T c.1017C>T (p.Ser339=) c.918C>T (p.Ser306=) | |
| 9 | g.127672113_127672114delinsCA | CA1879916855 | STXBP1 | c.984_985delinsCA (p.Ser328=) c.1026_1027delinsCA (p.Ser342=) c.*668_*669delinsCA (n.*668_*669delinsCA) c.*1890_*1891delinsCA (n.*1890_*1891delinsCA) c.968_969delinsCA n.862_863delinsCA c.1017_1018delinsCA (p.Ser339=) c.918_919delinsCA (p.Ser306=) | |
| 9 | g.127672114A>C | CA374936005 | STXBP1 | c.985A>C (p.Lys329Gln) c.1027A>C (p.Lys343Gln) c.*669A>C (n.*669A>C) c.*1891A>C (n.*1891A>C) c.969A>C n.863A>C c.1018A>C (p.Lys340Gln) c.919A>C (p.Lys307Gln) | gnomAD v4 |
| 9 | g.127672114A>G | CA374936007 | STXBP1 | c.985A>G (p.Lys329Glu) c.1027A>G (p.Lys343Glu) c.*669A>G (n.*669A>G) c.*1891A>G (n.*1891A>G) c.969A>G n.863A>G c.1018A>G (p.Lys340Glu) c.919A>G (p.Lys307Glu) | |
| 9 | g.127672114A>T | CA374936009 | STXBP1 | c.985A>T (p.Lys329Ter) c.1027A>T (p.Lys343Ter) c.*669A>T (n.*669A>T) c.*1891A>T (n.*1891A>T) c.969A>T n.863A>T c.1018A>T (p.Lys340Ter) c.919A>T (p.Lys307Ter) | |
| 9 | g.127672115del | CA1139661192 | STXBP1 | c.986del (p.Lys329SerfsTer13) c.1028del (p.Lys343SerfsTer13) c.*670del (n.*670del) c.*1892del (n.*1892del) c.970del n.864del c.1019del (p.Lys340SerfsTer13) c.920del (p.Lys307SerfsTer13) | ClinVar dbSNP |
| 9 | g.127672115A>C | CA374936014 | STXBP1 | c.986A>C (p.Lys329Thr) c.1028A>C (p.Lys343Thr) c.*670A>C (n.*670A>C) c.*1892A>C (n.*1892A>C) c.970A>C n.864A>C c.1019A>C (p.Lys340Thr) c.920A>C (p.Lys307Thr) | |
| 9 | g.127672115A>G | CA374936012 | STXBP1 | c.986A>G (p.Lys329Arg) c.1028A>G (p.Lys343Arg) c.*670A>G (n.*670A>G) c.*1892A>G (n.*1892A>G) c.970A>G n.864A>G c.1019A>G (p.Lys340Arg) c.920A>G (p.Lys307Arg) | |
| 9 | g.127672115A>T | CA374936010 | STXBP1 | c.986A>T (p.Lys329Met) c.1028A>T (p.Lys343Met) c.*670A>T (n.*670A>T) c.*1892A>T (n.*1892A>T) c.970A>T n.864A>T c.1019A>T (p.Lys340Met) c.920A>T (p.Lys307Met) | |
| 9 | g.127672116G>A | CA467229261 | STXBP1 | c.987G>A (p.Lys329=) c.1029G>A (p.Lys343=) c.*671G>A (n.*671G>A) c.*1893G>A (n.*1893G>A) c.971G>A n.865G>A c.1020G>A (p.Lys340=) c.921G>A (p.Lys307=) | |
| 9 | g.127672116G>C | CA374936016 | STXBP1 | c.987G>C (p.Lys329Asn) c.1029G>C (p.Lys343Asn) c.*671G>C (n.*671G>C) c.*1893G>C (n.*1893G>C) c.971G>C n.865G>C c.1020G>C (p.Lys340Asn) c.921G>C (p.Lys307Asn) | |
| 9 | g.127672116G= | CA1879916856 | STXBP1 | c.987G= (p.Lys329=) c.1029G= (p.Lys343=) c.*671G= (n.*671G=) c.*1893G= (n.*1893G=) c.971G= n.865G= c.1020G= (p.Lys340=) c.921G= (p.Lys307=) | |
| 9 | g.127672116G>T | CA200264180 | STXBP1 | c.987G>T (p.Lys329Asn) c.1029G>T (p.Lys343Asn) c.*671G>T (n.*671G>T) c.*1893G>T (n.*1893G>T) c.971G>T n.865G>T c.1020G>T (p.Lys340Asn) c.921G>T (p.Lys307Asn) | dbSNP gnomAD v4 |
| 9 | g.127672117G>A | CA374936018 | STXBP1 | c.987+1G>A (n.987+1G>A) c.1029+1G>A (n.1029+1G>A) c.*671+1G>A (n.*671+1G>A) c.*1893+1G>A (n.*1893+1G>A) c.971+1G>A n.865+1G>A c.1020+1G>A (n.1020+1G>A) c.921+1G>A (n.921+1G>A) | ClinVar dbSNP |
| 9 | g.127672117G>C | CA206776 | STXBP1 | c.987+1G>C (n.987+1G>C) c.1029+1G>C (n.1029+1G>C) c.*671+1G>C (n.*671+1G>C) c.*1893+1G>C (n.*1893+1G>C) c.971+1G>C n.865+1G>C c.1020+1G>C (n.1020+1G>C) c.921+1G>C (n.921+1G>C) | ClinVar dbSNP |
| 9 | g.127672117G= | CA1879916857 | STXBP1 | c.987+1G= (n.987+1G=) c.1029+1G= (n.1029+1G=) c.*671+1G= (n.*671+1G=) c.*1893+1G= (n.*1893+1G=) c.971+1G= n.865+1G= c.1020+1G= (n.1020+1G=) c.921+1G= (n.921+1G=) | |
| 9 | g.127672117G>T | CA234988 | STXBP1 | c.987+1G>T (n.987+1G>T) c.1029+1G>T (n.1029+1G>T) c.*671+1G>T (n.*671+1G>T) c.*1893+1G>T (n.*1893+1G>T) c.971+1G>T n.865+1G>T c.1020+1G>T (n.1020+1G>T) c.921+1G>T (n.921+1G>T) | ClinVar dbSNP |