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 |
|---|---|---|---|---|---|
| 9 | g.127663255C>A | CA374932990 | STXBP1 | c.438C>A (p.His146Gln) c.480C>A (p.His160Gln) c.*122C>A (n.*122C>A) c.*1344C>A (n.*1344C>A) c.422C>A c.124C>A n.316C>A c.471C>A (p.His157Gln) | |
| 9 | g.127663255C>G | CA374932991 | STXBP1 | c.438C>G (p.His146Gln) c.480C>G (p.His160Gln) c.*122C>G (n.*122C>G) c.*1344C>G (n.*1344C>G) c.422C>G c.124C>G n.316C>G c.471C>G (p.His157Gln) | |
| 9 | g.127663255C>T | CA467222859 | STXBP1 | c.438C>T (p.His146=) c.480C>T (p.His160=) c.*122C>T (n.*122C>T) c.*1344C>T (n.*1344C>T) c.422C>T c.124C>T n.316C>T c.471C>T (p.His157=) | gnomAD v4 |
| 9 | g.127663256A>C | CA374932992 | STXBP1 | c.439A>C (p.Lys147Gln) c.481A>C (p.Lys161Gln) c.*123A>C (n.*123A>C) c.*1345A>C (n.*1345A>C) c.423A>C c.125A>C n.317A>C c.472A>C (p.Lys158Gln) | |
| 9 | g.127663256A>G | CA374932993 | STXBP1 | c.439A>G (p.Lys147Glu) c.481A>G (p.Lys161Glu) c.*123A>G (n.*123A>G) c.*1345A>G (n.*1345A>G) c.423A>G c.125A>G n.317A>G c.472A>G (p.Lys158Glu) | |
| 9 | g.127663256A>T | CA374932994 | STXBP1 | c.439A>T (p.Lys147Ter) c.481A>T (p.Lys161Ter) c.*123A>T (n.*123A>T) c.*1345A>T (n.*1345A>T) c.423A>T c.125A>T n.317A>T c.472A>T (p.Lys158Ter) | |
| 9 | g.127663257A= | CA1879908329 | STXBP1 | c.440A= (p.Lys147=) c.482A= (p.Lys161=) c.*124A= (n.*124A=) c.*1346A= (n.*1346A=) c.424A= c.126A= n.318A= c.473A= (p.Lys158=) | |
| 9 | g.127663257A>C | CA374932995 | STXBP1 | c.440A>C (p.Lys147Thr) c.482A>C (p.Lys161Thr) c.*124A>C (n.*124A>C) c.*1346A>C (n.*1346A>C) c.424A>C c.126A>C n.318A>C c.473A>C (p.Lys158Thr) | |
| 9 | g.127663257A>G | CA374932996 | STXBP1 | c.440A>G (p.Lys147Arg) c.482A>G (p.Lys161Arg) c.*124A>G (n.*124A>G) c.*1346A>G (n.*1346A>G) c.424A>G c.126A>G n.318A>G c.473A>G (p.Lys158Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127663257A>T | CA374932997 | STXBP1 | c.440A>T (p.Lys147Met) c.482A>T (p.Lys161Met) c.*124A>T (n.*124A>T) c.*1346A>T (n.*1346A>T) c.424A>T c.126A>T n.318A>T c.473A>T (p.Lys158Met) | |
| 9 | g.127663258G>A | CA467222877 | STXBP1 | c.441G>A (p.Lys147=) c.483G>A (p.Lys161=) c.*125G>A (n.*125G>A) c.*1347G>A (n.*1347G>A) c.425G>A c.127G>A n.319G>A c.474G>A (p.Lys158=) | |
| 9 | g.127663258G>C | CA374932998 | STXBP1 | c.441G>C (p.Lys147Asn) c.483G>C (p.Lys161Asn) c.*125G>C (n.*125G>C) c.*1347G>C (n.*1347G>C) c.425G>C c.127G>C n.319G>C c.474G>C (p.Lys158Asn) | |
| 9 | g.127663258G>T | CA374932999 | STXBP1 | c.441G>T (p.Lys147Asn) c.483G>T (p.Lys161Asn) c.*125G>T (n.*125G>T) c.*1347G>T (n.*1347G>T) c.425G>T c.127G>T n.319G>T c.474G>T (p.Lys158Asn) | |
| 9 | g.127663259G>A | CA374933002 | STXBP1 | c.442G>A (p.Ala148Thr) c.484G>A (p.Ala162Thr) c.*126G>A (n.*126G>A) c.*1348G>A (n.*1348G>A) c.426G>A c.128G>A n.320G>A c.475G>A (p.Ala159Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127663259G>C | CA374933001 | STXBP1 | c.442G>C (p.Ala148Pro) c.484G>C (p.Ala162Pro) c.*126G>C (n.*126G>C) c.*1348G>C (n.*1348G>C) c.426G>C c.128G>C n.320G>C c.475G>C (p.Ala159Pro) | |
| 9 | g.127663259G= | CA1879908330 | STXBP1 | c.442G= (p.Ala148=) c.484G= (p.Ala162=) c.*126G= (n.*126G=) c.*1348G= (n.*1348G=) c.426G= c.128G= n.320G= c.475G= (p.Ala159=) | |
| 9 | g.127663259G>T | CA374933000 | STXBP1 | c.442G>T (p.Ala148Ser) c.484G>T (p.Ala162Ser) c.*126G>T (n.*126G>T) c.*1348G>T (n.*1348G>T) c.426G>T c.128G>T n.320G>T c.475G>T (p.Ala159Ser) | |
| 9 | g.127663260C>A | CA374933003 | STXBP1 | c.443C>A (p.Ala148Asp) c.485C>A (p.Ala162Asp) c.*127C>A (n.*127C>A) c.*1349C>A (n.*1349C>A) c.427C>A c.129C>A n.321C>A c.476C>A (p.Ala159Asp) | |
| 9 | g.127663260C>G | CA374933004 | STXBP1 | c.443C>G (p.Ala148Gly) c.485C>G (p.Ala162Gly) c.*127C>G (n.*127C>G) c.*1349C>G (n.*1349C>G) c.427C>G c.129C>G n.321C>G c.476C>G (p.Ala159Gly) | |
| 9 | g.127663260C>T | CA374933005 | STXBP1 | c.443C>T (p.Ala148Val) c.485C>T (p.Ala162Val) c.*127C>T (n.*127C>T) c.*1349C>T (n.*1349C>T) c.427C>T c.129C>T n.321C>T c.476C>T (p.Ala159Val) | gnomAD v4 |
| 9 | g.127663261T>A | CA467222890 | STXBP1 | c.444T>A (p.Ala148=) c.486T>A (p.Ala162=) c.*128T>A (n.*128T>A) c.*1350T>A (n.*1350T>A) c.428T>A c.130T>A n.322T>A c.477T>A (p.Ala159=) | ClinVar |
| 9 | g.127663261T>C | CA467222895 | STXBP1 | c.444T>C (p.Ala148=) c.486T>C (p.Ala162=) c.*128T>C (n.*128T>C) c.*1350T>C (n.*1350T>C) c.428T>C c.130T>C n.322T>C c.477T>C (p.Ala159=) | ClinVar |
| 9 | g.127663261T>G | CA467222899 | STXBP1 | c.444T>G (p.Ala148=) c.486T>G (p.Ala162=) c.*128T>G (n.*128T>G) c.*1350T>G (n.*1350T>G) c.428T>G c.130T>G n.322T>G c.477T>G (p.Ala159=) | |
| 9 | g.127663262C>A | CA374933006 | STXBP1 | c.445C>A (p.Gln149Lys) c.487C>A (p.Gln163Lys) c.*129C>A (n.*129C>A) c.*1351C>A (n.*1351C>A) c.429C>A c.131C>A n.323C>A c.478C>A (p.Gln160Lys) | |
| 9 | g.127663262C>G | CA374933007 | STXBP1 | c.445C>G (p.Gln149Glu) c.487C>G (p.Gln163Glu) c.*129C>G (n.*129C>G) c.*1351C>G (n.*1351C>G) c.429C>G c.131C>G n.323C>G c.478C>G (p.Gln160Glu) | |
| 9 | g.127663262C>T | CA374933008 | STXBP1 | c.445C>T (p.Gln149Ter) c.487C>T (p.Gln163Ter) c.*129C>T (n.*129C>T) c.*1351C>T (n.*1351C>T) c.429C>T c.131C>T n.323C>T c.478C>T (p.Gln160Ter) | |
| 9 | g.127663263A= | CA1879908331 | STXBP1 | c.446A= (p.Gln149=) c.488A= (p.Gln163=) c.*130A= (n.*130A=) c.*1352A= (n.*1352A=) c.430A= c.132A= n.324A= c.479A= (p.Gln160=) | |
| 9 | g.127663263A>C | CA374933009 | STXBP1 | c.446A>C (p.Gln149Pro) c.488A>C (p.Gln163Pro) c.*130A>C (n.*130A>C) c.*1352A>C (n.*1352A>C) c.430A>C c.132A>C n.324A>C c.479A>C (p.Gln160Pro) | |
| 9 | g.127663263A>G | CA374933010 | STXBP1 | c.446A>G (p.Gln149Arg) c.488A>G (p.Gln163Arg) c.*130A>G (n.*130A>G) c.*1352A>G (n.*1352A>G) c.430A>G c.132A>G n.324A>G c.479A>G (p.Gln160Arg) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127663263A>T | CA374933011 | STXBP1 | c.446A>T (p.Gln149Leu) c.488A>T (p.Gln163Leu) c.*130A>T (n.*130A>T) c.*1352A>T (n.*1352A>T) c.430A>T c.132A>T n.324A>T c.479A>T (p.Gln160Leu) | |
| 9 | g.127663264G>A | CA467222913 | STXBP1 | c.447G>A (p.Gln149=) c.489G>A (p.Gln163=) c.*131G>A (n.*131G>A) c.*1353G>A (n.*1353G>A) c.431G>A c.133G>A n.325G>A c.480G>A (p.Gln160=) | |
| 9 | g.127663264G>C | CA374933012 | STXBP1 | c.447G>C (p.Gln149His) c.489G>C (p.Gln163His) c.*131G>C (n.*131G>C) c.*1353G>C (n.*1353G>C) c.431G>C c.133G>C n.325G>C c.480G>C (p.Gln160His) | gnomAD v4 |
| 9 | g.127663264G>T | CA374933013 | STXBP1 | c.447G>T (p.Gln149His) c.489G>T (p.Gln163His) c.*131G>T (n.*131G>T) c.*1353G>T (n.*1353G>T) c.431G>T c.133G>T n.325G>T c.480G>T (p.Gln160His) | |
| 9 | g.127663265A>C | CA374933014 | STXBP1 | c.448A>C (p.Met150Leu) c.490A>C (p.Met164Leu) c.*132A>C (n.*132A>C) c.*1354A>C (n.*1354A>C) c.432A>C c.134A>C c.448A>C n.326A>C c.481A>C (p.Met161Leu) | |
| 9 | g.127663265A>G | CA374933015 | STXBP1 | c.448A>G (p.Met150Val) c.490A>G (p.Met164Val) c.*132A>G (n.*132A>G) c.*1354A>G (n.*1354A>G) c.432A>G c.134A>G c.448A>G n.326A>G c.481A>G (p.Met161Val) | |
| 9 | g.127663265A>T | CA374933016 | STXBP1 | c.448A>T (p.Met150Leu) c.490A>T (p.Met164Leu) c.*132A>T (n.*132A>T) c.*1354A>T (n.*1354A>T) c.432A>T c.134A>T c.448A>T n.326A>T c.481A>T (p.Met161Leu) | gnomAD v4 |
| 9 | g.127663266T>A | CA374933019 | STXBP1 | c.449T>A (p.Met150Lys) c.491T>A (p.Met164Lys) c.*133T>A (n.*133T>A) c.*1355T>A (n.*1355T>A) c.433T>A c.135T>A n.327T>A c.482T>A (p.Met161Lys) | |
| 9 | g.127663266T>C | CA374933018 | STXBP1 | c.449T>C (p.Met150Thr) c.491T>C (p.Met164Thr) c.*133T>C (n.*133T>C) c.*1355T>C (n.*1355T>C) c.433T>C c.135T>C n.327T>C c.482T>C (p.Met161Thr) | |
| 9 | g.127663266T>G | CA374933017 | STXBP1 | c.449T>G (p.Met150Arg) c.491T>G (p.Met164Arg) c.*133T>G (n.*133T>G) c.*1355T>G (n.*1355T>G) c.433T>G c.135T>G n.327T>G c.482T>G (p.Met161Arg) | |
| 9 | g.127663267G>A | CA374933020 | STXBP1 | c.450G>A (p.Met150Ile) c.492G>A (p.Met164Ile) c.*134G>A (n.*134G>A) c.*1356G>A (n.*1356G>A) c.434G>A c.136G>A n.328G>A c.483G>A (p.Met161Ile) | dbSNP |
| 9 | g.127663267G>C | CA374933021 | STXBP1 | c.450G>C (p.Met150Ile) c.492G>C (p.Met164Ile) c.*134G>C (n.*134G>C) c.*1356G>C (n.*1356G>C) c.434G>C c.136G>C n.328G>C c.483G>C (p.Met161Ile) | |
| 9 | g.127663267G= | CA1879908332 | STXBP1 | c.450G= (p.Met150=) c.492G= (p.Met164=) c.*134G= (n.*134G=) c.*1356G= (n.*1356G=) c.434G= c.136G= n.328G= c.483G= (p.Met161=) | |
| 9 | g.127663267G>T | CA374933022 | STXBP1 | c.450G>T (p.Met150Ile) c.492G>T (p.Met164Ile) c.*134G>T (n.*134G>T) c.*1356G>T (n.*1356G>T) c.434G>T c.136G>T n.328G>T c.483G>T (p.Met161Ile) | |
| 9 | g.127663268A>C | CA374933023 | STXBP1 | c.451A>C (p.Lys151Gln) c.493A>C (p.Lys165Gln) c.*135A>C (n.*135A>C) c.*1357A>C (n.*1357A>C) c.435A>C c.137A>C n.329A>C c.484A>C (p.Lys162Gln) | |
| 9 | g.127663268A>G | CA374933024 | STXBP1 | c.451A>G (p.Lys151Glu) c.493A>G (p.Lys165Glu) c.*135A>G (n.*135A>G) c.*1357A>G (n.*1357A>G) c.435A>G c.137A>G n.329A>G c.484A>G (p.Lys162Glu) | |
| 9 | g.127663268A>T | CA374933025 | STXBP1 | c.451A>T (p.Lys151Ter) c.493A>T (p.Lys165Ter) c.*135A>T (n.*135A>T) c.*1357A>T (n.*1357A>T) c.435A>T c.137A>T n.329A>T c.484A>T (p.Lys162Ter) | |
| 9 | g.127663269A= | CA1879908335 | STXBP1 | c.452A= (p.Lys151=) c.494A= (p.Lys165=) c.*136A= (n.*136A=) c.*1358A= (n.*1358A=) c.436A= c.138A= n.330A= c.485A= (p.Lys162=) | |
| 9 | g.127663269A>C | CA374933028 | STXBP1 | c.452A>C (p.Lys151Thr) c.494A>C (p.Lys165Thr) c.*136A>C (n.*136A>C) c.*1358A>C (n.*1358A>C) c.436A>C c.138A>C n.330A>C c.485A>C (p.Lys162Thr) | |
| 9 | g.127663269A>G | CA374933026 | STXBP1 | c.452A>G (p.Lys151Arg) c.494A>G (p.Lys165Arg) c.*136A>G (n.*136A>G) c.*1358A>G (n.*1358A>G) c.436A>G c.138A>G n.330A>G c.485A>G (p.Lys162Arg) | ClinVar dbSNP COSMIC COSMIC |
| 9 | g.127663269A>T | CA374933027 | STXBP1 | c.452A>T (p.Lys151Met) c.494A>T (p.Lys165Met) c.*136A>T (n.*136A>T) c.*1358A>T (n.*1358A>T) c.436A>T c.138A>T n.330A>T c.485A>T (p.Lys162Met) |