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 |
|---|---|---|---|---|---|
| 16 | g.3729724A= | CA2202916509 | CREBBP | c.5323T= (p.Cys1775=) c.5209T= (p.Cys1737=) c.5278T= (p.Cys1760=) c.4906T= (p.Cys1636=) c.5062T= (p.Cys1688=) c.5269T= (p.Cys1757=) c.4570T= (p.Cys1524=) c.5317T= (p.Cys1773=) | |
| 16 | g.3729724A>C | CA394557176 | CREBBP | c.5323T>G (p.Cys1775Gly) c.5209T>G (p.Cys1737Gly) c.5278T>G (p.Cys1760Gly) c.4906T>G (p.Cys1636Gly) c.5062T>G (p.Cys1688Gly) c.5269T>G (p.Cys1757Gly) c.4570T>G (p.Cys1524Gly) c.5317T>G (p.Cys1773Gly) | |
| 16 | g.3729724A>G | CA16607414 | CREBBP | c.5323T>C (p.Cys1775Arg) c.5209T>C (p.Cys1737Arg) c.5278T>C (p.Cys1760Arg) c.4906T>C (p.Cys1636Arg) c.5062T>C (p.Cys1688Arg) c.5269T>C (p.Cys1757Arg) c.4570T>C (p.Cys1524Arg) c.5317T>C (p.Cys1773Arg) | ClinVar dbSNP |
| 16 | g.3729724A>T | CA394557177 | CREBBP | c.5323T>A (p.Cys1775Ser) c.5209T>A (p.Cys1737Ser) c.5278T>A (p.Cys1760Ser) c.4906T>A (p.Cys1636Ser) c.5062T>A (p.Cys1688Ser) c.5269T>A (p.Cys1757Ser) c.4570T>A (p.Cys1524Ser) c.5317T>A (p.Cys1773Ser) | dbSNP |
| 16 | g.3729725G>A | CA493394210 | CREBBP | c.5322C>T (p.Arg1774=) c.5208C>T (p.Arg1736=) c.5277C>T (p.Arg1759=) c.4905C>T (p.Arg1635=) c.5061C>T (p.Arg1687=) c.5268C>T (p.Arg1756=) c.4569C>T (p.Arg1523=) c.5316C>T (p.Arg1772=) | dbSNP |
| 16 | g.3729725G>C | CA493394212 | CREBBP | c.5322C>G (p.Arg1774=) c.5208C>G (p.Arg1736=) c.5277C>G (p.Arg1759=) c.4905C>G (p.Arg1635=) c.5061C>G (p.Arg1687=) c.5268C>G (p.Arg1756=) c.4569C>G (p.Arg1523=) c.5316C>G (p.Arg1772=) | dbSNP |
| 16 | g.3729725G>T | CA493394211 | CREBBP | c.5322C>A (p.Arg1774=) c.5208C>A (p.Arg1736=) c.5277C>A (p.Arg1759=) c.4905C>A (p.Arg1635=) c.5061C>A (p.Arg1687=) c.5268C>A (p.Arg1756=) c.4569C>A (p.Arg1523=) c.5316C>A (p.Arg1772=) | |
| 16 | g.3729726C>A | CA394557179 | CREBBP | c.5321G>T (p.Arg1774Leu) c.5207G>T (p.Arg1736Leu) c.5276G>T (p.Arg1759Leu) c.4904G>T (p.Arg1635Leu) c.5060G>T (p.Arg1687Leu) c.5267G>T (p.Arg1756Leu) c.4568G>T (p.Arg1523Leu) c.5315G>T (p.Arg1772Leu) | gnomAD v4 |
| 16 | g.3729726C>G | CA394557181 | CREBBP | c.5321G>C (p.Arg1774Pro) c.5207G>C (p.Arg1736Pro) c.5276G>C (p.Arg1759Pro) c.4904G>C (p.Arg1635Pro) c.5060G>C (p.Arg1687Pro) c.5267G>C (p.Arg1756Pro) c.4568G>C (p.Arg1523Pro) c.5315G>C (p.Arg1772Pro) | dbSNP |
| 16 | g.3729726C>T | CA394557183 | CREBBP | c.5321G>A (p.Arg1774His) c.5207G>A (p.Arg1736His) c.5276G>A (p.Arg1759His) c.4904G>A (p.Arg1635His) c.5060G>A (p.Arg1687His) c.5267G>A (p.Arg1756His) c.4568G>A (p.Arg1523His) c.5315G>A (p.Arg1772His) | gnomAD v4 |
| 16 | g.3729727G>A | CA394557185 | CREBBP | c.5320C>T (p.Arg1774Cys) c.5206C>T (p.Arg1736Cys) c.5275C>T (p.Arg1759Cys) c.4903C>T (p.Arg1635Cys) c.5059C>T (p.Arg1687Cys) c.5266C>T (p.Arg1756Cys) c.4567C>T (p.Arg1523Cys) c.5314C>T (p.Arg1772Cys) | dbSNP gnomAD v4 |
| 16 | g.3729727G>C | CA394557187 | CREBBP | c.5320C>G (p.Arg1774Gly) c.5206C>G (p.Arg1736Gly) c.5275C>G (p.Arg1759Gly) c.4903C>G (p.Arg1635Gly) c.5059C>G (p.Arg1687Gly) c.5266C>G (p.Arg1756Gly) c.4567C>G (p.Arg1523Gly) c.5314C>G (p.Arg1772Gly) | dbSNP |
| 16 | g.3729727G>T | CA394557189 | CREBBP | c.5320C>A (p.Arg1774Ser) c.5206C>A (p.Arg1736Ser) c.5275C>A (p.Arg1759Ser) c.4903C>A (p.Arg1635Ser) c.5059C>A (p.Arg1687Ser) c.5266C>A (p.Arg1756Ser) c.4567C>A (p.Arg1523Ser) c.5314C>A (p.Arg1772Ser) | dbSNP gnomAD v4 |
| 16 | g.3729728C>A | CA394557193 | CREBBP | c.5319G>T (p.Gln1773His) c.5205G>T (p.Gln1735His) c.5274G>T (p.Gln1758His) c.4902G>T (p.Gln1634His) c.5058G>T (p.Gln1686His) c.5265G>T (p.Gln1755His) c.4566G>T (p.Gln1522His) c.5313G>T (p.Gln1771His) | |
| 16 | g.3729728C= | CA2202916510 | CREBBP | c.5319G= (p.Gln1773=) c.5205G= (p.Gln1735=) c.5274G= (p.Gln1758=) c.4902G= (p.Gln1634=) c.5058G= (p.Gln1686=) c.5265G= (p.Gln1755=) c.4566G= (p.Gln1522=) c.5313G= (p.Gln1771=) | |
| 16 | g.3729728C>G | CA394557192 | CREBBP | c.5319G>C (p.Gln1773His) c.5205G>C (p.Gln1735His) c.5274G>C (p.Gln1758His) c.4902G>C (p.Gln1634His) c.5058G>C (p.Gln1686His) c.5265G>C (p.Gln1755His) c.4566G>C (p.Gln1522His) c.5313G>C (p.Gln1771His) | dbSNP |
| 16 | g.3729728C>T | CA493394213 | CREBBP | c.5319G>A (p.Gln1773=) c.5205G>A (p.Gln1735=) c.5274G>A (p.Gln1758=) c.4902G>A (p.Gln1634=) c.5058G>A (p.Gln1686=) c.5265G>A (p.Gln1755=) c.4566G>A (p.Gln1522=) c.5313G>A (p.Gln1771=) | dbSNP gnomAD v4 |
| 16 | g.3729729T>A | CA394557195 | CREBBP | c.5318A>T (p.Gln1773Leu) c.5204A>T (p.Gln1735Leu) c.5273A>T (p.Gln1758Leu) c.4901A>T (p.Gln1634Leu) c.5057A>T (p.Gln1686Leu) c.5264A>T (p.Gln1755Leu) c.4565A>T (p.Gln1522Leu) c.5312A>T (p.Gln1771Leu) | |
| 16 | g.3729729T>C | CA394557197 | CREBBP | c.5318A>G (p.Gln1773Arg) c.5204A>G (p.Gln1735Arg) c.5273A>G (p.Gln1758Arg) c.4901A>G (p.Gln1634Arg) c.5057A>G (p.Gln1686Arg) c.5264A>G (p.Gln1755Arg) c.4565A>G (p.Gln1522Arg) c.5312A>G (p.Gln1771Arg) | |
| 16 | g.3729729T>G | CA394557199 | CREBBP | c.5318A>C (p.Gln1773Pro) c.5204A>C (p.Gln1735Pro) c.5273A>C (p.Gln1758Pro) c.4901A>C (p.Gln1634Pro) c.5057A>C (p.Gln1686Pro) c.5264A>C (p.Gln1755Pro) c.4565A>C (p.Gln1522Pro) c.5312A>C (p.Gln1771Pro) | |
| 16 | g.3729730G>A | CA394557201 | CREBBP | c.5317C>T (p.Gln1773Ter) c.5203C>T (p.Gln1735Ter) c.5272C>T (p.Gln1758Ter) c.4900C>T (p.Gln1634Ter) c.5056C>T (p.Gln1686Ter) c.5263C>T (p.Gln1755Ter) c.4564C>T (p.Gln1522Ter) c.5311C>T (p.Gln1771Ter) | |
| 16 | g.3729730G>C | CA394557203 | CREBBP | c.5317C>G (p.Gln1773Glu) c.5203C>G (p.Gln1735Glu) c.5272C>G (p.Gln1758Glu) c.4900C>G (p.Gln1634Glu) c.5056C>G (p.Gln1686Glu) c.5263C>G (p.Gln1755Glu) c.4564C>G (p.Gln1522Glu) c.5311C>G (p.Gln1771Glu) | |
| 16 | g.3729730G>T | CA394557205 | CREBBP | c.5317C>A (p.Gln1773Lys) c.5203C>A (p.Gln1735Lys) c.5272C>A (p.Gln1758Lys) c.4900C>A (p.Gln1634Lys) c.5056C>A (p.Gln1686Lys) c.5263C>A (p.Gln1755Lys) c.4564C>A (p.Gln1522Lys) c.5311C>A (p.Gln1771Lys) | |
| 16 | g.3729731G>A | CA493394217 | CREBBP | c.5316C>T (p.Ile1772=) c.5202C>T (p.Ile1734=) c.5271C>T (p.Ile1757=) c.4899C>T (p.Ile1633=) c.5055C>T (p.Ile1685=) c.5262C>T (p.Ile1754=) c.4563C>T (p.Ile1521=) c.5310C>T (p.Ile1770=) | |
| 16 | g.3729731G>C | CA394557207 | CREBBP | c.5316C>G (p.Ile1772Met) c.5202C>G (p.Ile1734Met) c.5271C>G (p.Ile1757Met) c.4899C>G (p.Ile1633Met) c.5055C>G (p.Ile1685Met) c.5262C>G (p.Ile1754Met) c.4563C>G (p.Ile1521Met) c.5310C>G (p.Ile1770Met) | |
| 16 | g.3729731G>T | CA493394218 | CREBBP | c.5316C>A (p.Ile1772=) c.5202C>A (p.Ile1734=) c.5271C>A (p.Ile1757=) c.4899C>A (p.Ile1633=) c.5055C>A (p.Ile1685=) c.5262C>A (p.Ile1754=) c.4563C>A (p.Ile1521=) c.5310C>A (p.Ile1770=) | gnomAD v4 |
| 16 | g.3729732A>C | CA394557213 | CREBBP | c.5315T>G (p.Ile1772Ser) c.5201T>G (p.Ile1734Ser) c.5270T>G (p.Ile1757Ser) c.4898T>G (p.Ile1633Ser) c.5054T>G (p.Ile1685Ser) c.5261T>G (p.Ile1754Ser) c.4562T>G (p.Ile1521Ser) c.5309T>G (p.Ile1770Ser) | dbSNP |
| 16 | g.3729732A>G | CA394557209 | CREBBP | c.5315T>C (p.Ile1772Thr) c.5201T>C (p.Ile1734Thr) c.5270T>C (p.Ile1757Thr) c.4898T>C (p.Ile1633Thr) c.5054T>C (p.Ile1685Thr) c.5261T>C (p.Ile1754Thr) c.4562T>C (p.Ile1521Thr) c.5309T>C (p.Ile1770Thr) | dbSNP |
| 16 | g.3729732A>T | CA394557211 | CREBBP | c.5315T>A (p.Ile1772Asn) c.5201T>A (p.Ile1734Asn) c.5270T>A (p.Ile1757Asn) c.4898T>A (p.Ile1633Asn) c.5054T>A (p.Ile1685Asn) c.5261T>A (p.Ile1754Asn) c.4562T>A (p.Ile1521Asn) c.5309T>A (p.Ile1770Asn) | ClinVar dbSNP |
| 16 | g.3729733T>A | CA394557215 | CREBBP | c.5314A>T (p.Ile1772Phe) c.5200A>T (p.Ile1734Phe) c.5269A>T (p.Ile1757Phe) c.4897A>T (p.Ile1633Phe) c.5053A>T (p.Ile1685Phe) c.5260A>T (p.Ile1754Phe) c.4561A>T (p.Ile1521Phe) c.5308A>T (p.Ile1770Phe) | dbSNP |
| 16 | g.3729733T>C | CA394557217 | CREBBP | c.5314A>G (p.Ile1772Val) c.5200A>G (p.Ile1734Val) c.5269A>G (p.Ile1757Val) c.4897A>G (p.Ile1633Val) c.5053A>G (p.Ile1685Val) c.5260A>G (p.Ile1754Val) c.4561A>G (p.Ile1521Val) c.5308A>G (p.Ile1770Val) | |
| 16 | g.3729733T>G | CA394557219 | CREBBP | c.5314A>C (p.Ile1772Leu) c.5200A>C (p.Ile1734Leu) c.5269A>C (p.Ile1757Leu) c.4897A>C (p.Ile1633Leu) c.5053A>C (p.Ile1685Leu) c.5260A>C (p.Ile1754Leu) c.4561A>C (p.Ile1521Leu) c.5308A>C (p.Ile1770Leu) | dbSNP |
| 16 | g.3729734G>A | CA493394219 | CREBBP | c.5313C>T (p.Ser1771=) c.5199C>T (p.Ser1733=) c.5268C>T (p.Ser1756=) c.4896C>T (p.Ser1632=) c.5052C>T (p.Ser1684=) c.5259C>T (p.Ser1753=) c.4560C>T (p.Ser1520=) c.5307C>T (p.Ser1769=) | dbSNP gnomAD v4 |
| 16 | g.3729734G>C | CA394557221 | CREBBP | c.5313C>G (p.Ser1771Arg) c.5199C>G (p.Ser1733Arg) c.5268C>G (p.Ser1756Arg) c.4896C>G (p.Ser1632Arg) c.5052C>G (p.Ser1684Arg) c.5259C>G (p.Ser1753Arg) c.4560C>G (p.Ser1520Arg) c.5307C>G (p.Ser1769Arg) | dbSNP |
| 16 | g.3729734G>T | CA394557223 | CREBBP | c.5313C>A (p.Ser1771Arg) c.5199C>A (p.Ser1733Arg) c.5268C>A (p.Ser1756Arg) c.4896C>A (p.Ser1632Arg) c.5052C>A (p.Ser1684Arg) c.5259C>A (p.Ser1753Arg) c.4560C>A (p.Ser1520Arg) c.5307C>A (p.Ser1769Arg) | |
| 16 | g.3729735C>A | CA394557225 | CREBBP | c.5312G>T (p.Ser1771Ile) c.5198G>T (p.Ser1733Ile) c.5267G>T (p.Ser1756Ile) c.4895G>T (p.Ser1632Ile) c.5051G>T (p.Ser1684Ile) c.5258G>T (p.Ser1753Ile) c.4559G>T (p.Ser1520Ile) c.5306G>T (p.Ser1769Ile) | |
| 16 | g.3729735C>G | CA394557228 | CREBBP | c.5312G>C (p.Ser1771Thr) c.5198G>C (p.Ser1733Thr) c.5267G>C (p.Ser1756Thr) c.4895G>C (p.Ser1632Thr) c.5051G>C (p.Ser1684Thr) c.5258G>C (p.Ser1753Thr) c.4559G>C (p.Ser1520Thr) c.5306G>C (p.Ser1769Thr) | dbSNP |
| 16 | g.3729735C>T | CA394557226 | CREBBP | c.5312G>A (p.Ser1771Asn) c.5198G>A (p.Ser1733Asn) c.5267G>A (p.Ser1756Asn) c.4895G>A (p.Ser1632Asn) c.5051G>A (p.Ser1684Asn) c.5258G>A (p.Ser1753Asn) c.4559G>A (p.Ser1520Asn) c.5306G>A (p.Ser1769Asn) | dbSNP gnomAD v4 |
| 16 | g.3729736T>A | CA394557229 | CREBBP | c.5311A>T (p.Ser1771Cys) c.5197A>T (p.Ser1733Cys) c.5266A>T (p.Ser1756Cys) c.4894A>T (p.Ser1632Cys) c.5050A>T (p.Ser1684Cys) c.5257A>T (p.Ser1753Cys) c.4558A>T (p.Ser1520Cys) c.5305A>T (p.Ser1769Cys) | dbSNP |
| 16 | g.3729736T>C | CA394557231 | CREBBP | c.5311A>G (p.Ser1771Gly) c.5197A>G (p.Ser1733Gly) c.5266A>G (p.Ser1756Gly) c.4894A>G (p.Ser1632Gly) c.5050A>G (p.Ser1684Gly) c.5257A>G (p.Ser1753Gly) c.4558A>G (p.Ser1520Gly) c.5305A>G (p.Ser1769Gly) | dbSNP |
| 16 | g.3729736T>G | CA394557233 | CREBBP | c.5311A>C (p.Ser1771Arg) c.5197A>C (p.Ser1733Arg) c.5266A>C (p.Ser1756Arg) c.4894A>C (p.Ser1632Arg) c.5050A>C (p.Ser1684Arg) c.5257A>C (p.Ser1753Arg) c.4558A>C (p.Ser1520Arg) c.5305A>C (p.Ser1769Arg) | dbSNP |
| 16 | g.3729737C>A | CA493394223 | CREBBP | c.5310G>T (p.Leu1770=) c.5196G>T (p.Leu1732=) c.5265G>T (p.Leu1755=) c.4893G>T (p.Leu1631=) c.5049G>T (p.Leu1683=) c.5256G>T (p.Leu1752=) c.4557G>T (p.Leu1519=) c.5304G>T (p.Leu1768=) | dbSNP gnomAD v4 |
| 16 | g.3729737C= | CA2202916511 | CREBBP | c.5310G= (p.Leu1770=) c.5196G= (p.Leu1732=) c.5265G= (p.Leu1755=) c.4893G= (p.Leu1631=) c.5049G= (p.Leu1683=) c.5256G= (p.Leu1752=) c.4557G= (p.Leu1519=) c.5304G= (p.Leu1768=) | |
| 16 | g.3729737C>G | CA493394225 | CREBBP | c.5310G>C (p.Leu1770=) c.5196G>C (p.Leu1732=) c.5265G>C (p.Leu1755=) c.4893G>C (p.Leu1631=) c.5049G>C (p.Leu1683=) c.5256G>C (p.Leu1752=) c.4557G>C (p.Leu1519=) c.5304G>C (p.Leu1768=) | dbSNP |
| 16 | g.3729737C>T | CA493394224 | CREBBP | c.5310G>A (p.Leu1770=) c.5196G>A (p.Leu1732=) c.5265G>A (p.Leu1755=) c.4893G>A (p.Leu1631=) c.5049G>A (p.Leu1683=) c.5256G>A (p.Leu1752=) c.4557G>A (p.Leu1519=) c.5304G>A (p.Leu1768=) | dbSNP |
| 16 | g.3729738A>C | CA394557235 | CREBBP | c.5309T>G (p.Leu1770Arg) c.5195T>G (p.Leu1732Arg) c.5264T>G (p.Leu1755Arg) c.4892T>G (p.Leu1631Arg) c.5048T>G (p.Leu1683Arg) c.5255T>G (p.Leu1752Arg) c.4556T>G (p.Leu1519Arg) c.5303T>G (p.Leu1768Arg) | dbSNP |
| 16 | g.3729738A>G | CA394557237 | CREBBP | c.5309T>C (p.Leu1770Pro) c.5195T>C (p.Leu1732Pro) c.5264T>C (p.Leu1755Pro) c.4892T>C (p.Leu1631Pro) c.5048T>C (p.Leu1683Pro) c.5255T>C (p.Leu1752Pro) c.4556T>C (p.Leu1519Pro) c.5303T>C (p.Leu1768Pro) | dbSNP |
| 16 | g.3729738A>T | CA394557238 | CREBBP | c.5309T>A (p.Leu1770Gln) c.5195T>A (p.Leu1732Gln) c.5264T>A (p.Leu1755Gln) c.4892T>A (p.Leu1631Gln) c.5048T>A (p.Leu1683Gln) c.5255T>A (p.Leu1752Gln) c.4556T>A (p.Leu1519Gln) c.5303T>A (p.Leu1768Gln) | dbSNP |
| 16 | g.3729739G>A | CA493394226 | CREBBP | c.5308C>T (p.Leu1770=) c.5194C>T (p.Leu1732=) c.5263C>T (p.Leu1755=) c.4891C>T (p.Leu1631=) c.5047C>T (p.Leu1683=) c.5254C>T (p.Leu1752=) c.4555C>T (p.Leu1519=) c.5302C>T (p.Leu1768=) | dbSNP |
| 16 | g.3729739G>C | CA394557242 | CREBBP | c.5308C>G (p.Leu1770Val) c.5194C>G (p.Leu1732Val) c.5263C>G (p.Leu1755Val) c.4891C>G (p.Leu1631Val) c.5047C>G (p.Leu1683Val) c.5254C>G (p.Leu1752Val) c.4555C>G (p.Leu1519Val) c.5302C>G (p.Leu1768Val) | dbSNP |