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.3778097_3778098delinsTG | CA2202958817 | CREBBP | c.2026_2027delinsCA (p.Gln676=) c.1912_1913delinsCA (p.Gln638=) c.631_632delinsCA (p.Gln211=) c.75_76delinsCA c.339_340delinsCA n.188_189delinsCA c.1972_1973delinsCA (p.Gln658=) c.1273_1274delinsCA (p.Gln425=) | |
| 16 | g.3778098del | CA271370 | CREBBP | c.2026del (p.Gln676LysfsTer19) c.1912del (p.Gln638LysfsTer19) c.631del (p.Gln211LysfsTer19) c.75del c.339del n.188del c.1972del (p.Gln658LysfsTer19) c.1273del (p.Gln425LysfsTer19) | ClinVar dbSNP |
| 16 | g.3778098G>A | CA394554583 | CREBBP | c.2026C>T (p.Gln676Ter) c.1912C>T (p.Gln638Ter) c.631C>T (p.Gln211Ter) c.75C>T c.339C>T n.188C>T c.1972C>T (p.Gln658Ter) c.1273C>T (p.Gln425Ter) | |
| 16 | g.3778098G>C | CA394554585 | CREBBP | c.2026C>G (p.Gln676Glu) c.1912C>G (p.Gln638Glu) c.631C>G (p.Gln211Glu) c.75C>G c.339C>G n.188C>G c.1972C>G (p.Gln658Glu) c.1273C>G (p.Gln425Glu) | gnomAD v4 |
| 16 | g.3778098G>T | CA394554588 | CREBBP | c.2026C>A (p.Gln676Lys) c.1912C>A (p.Gln638Lys) c.631C>A (p.Gln211Lys) c.75C>A c.339C>A n.188C>A c.1972C>A (p.Gln658Lys) c.1273C>A (p.Gln425Lys) | |
| 16 | g.3778099T>A | CA394554590 | CREBBP | c.2025A>T (p.Lys675Asn) c.1911A>T (p.Lys637Asn) c.630A>T (p.Lys210Asn) c.74A>T c.338A>T n.187A>T c.1971A>T (p.Lys657Asn) c.1272A>T (p.Lys424Asn) | dbSNP |
| 16 | g.3778099T>C | CA493276299 | CREBBP | c.2025A>G (p.Lys675=) c.1911A>G (p.Lys637=) c.630A>G (p.Lys210=) c.74A>G c.338A>G n.187A>G c.1971A>G (p.Lys657=) c.1272A>G (p.Lys424=) | |
| 16 | g.3778099T>G | CA394554592 | CREBBP | c.2025A>C (p.Lys675Asn) c.1911A>C (p.Lys637Asn) c.630A>C (p.Lys210Asn) c.74A>C c.338A>C n.187A>C c.1971A>C (p.Lys657Asn) c.1272A>C (p.Lys424Asn) | dbSNP |
| 16 | g.3778100T>A | CA394554597 | CREBBP | c.2024A>T (p.Lys675Ile) c.1910A>T (p.Lys637Ile) c.629A>T (p.Lys210Ile) c.73A>T c.337A>T n.186A>T c.1970A>T (p.Lys657Ile) c.1271A>T (p.Lys424Ile) | dbSNP |
| 16 | g.3778100T>C | CA394554594 | CREBBP | c.2024A>G (p.Lys675Arg) c.1910A>G (p.Lys637Arg) c.629A>G (p.Lys210Arg) c.73A>G c.337A>G n.186A>G c.1970A>G (p.Lys657Arg) c.1271A>G (p.Lys424Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3778100T>G | CA394554596 | CREBBP | c.2024A>C (p.Lys675Thr) c.1910A>C (p.Lys637Thr) c.629A>C (p.Lys210Thr) c.73A>C c.337A>C n.186A>C c.1970A>C (p.Lys657Thr) c.1271A>C (p.Lys424Thr) | |
| 16 | g.3778100T= | CA2202958824 | CREBBP | c.2024A= (p.Lys675=) c.1910A= (p.Lys637=) c.629A= (p.Lys210=) c.73A= c.337A= n.186A= c.1970A= (p.Lys657=) c.1271A= (p.Lys424=) | |
| 16 | g.3778101T>A | CA394554599 | CREBBP | c.2023A>T (p.Lys675Ter) c.1909A>T (p.Lys637Ter) c.628A>T (p.Lys210Ter) c.72A>T c.336A>T n.185A>T c.1969A>T (p.Lys657Ter) c.1270A>T (p.Lys424Ter) | dbSNP |
| 16 | g.3778101T>C | CA394554601 | CREBBP | c.2023A>G (p.Lys675Glu) c.1909A>G (p.Lys637Glu) c.628A>G (p.Lys210Glu) c.72A>G c.336A>G n.185A>G c.1969A>G (p.Lys657Glu) c.1270A>G (p.Lys424Glu) | dbSNP |
| 16 | g.3778101T>G | CA394554602 | CREBBP | c.2023A>C (p.Lys675Gln) c.1909A>C (p.Lys637Gln) c.628A>C (p.Lys210Gln) c.72A>C c.336A>C n.185A>C c.1969A>C (p.Lys657Gln) c.1270A>C (p.Lys424Gln) | |
| 16 | g.3778102A= | CA2202958826 | CREBBP | c.2022T= (p.His674=) c.1908T= (p.His636=) c.627T= (p.His209=) c.71T= c.335T= n.184T= c.1968T= (p.His656=) c.1269T= (p.His423=) | |
| 16 | g.3778102A>C | CA394554604 | CREBBP | c.2022T>G (p.His674Gln) c.1908T>G (p.His636Gln) c.627T>G (p.His209Gln) c.71T>G c.335T>G n.184T>G c.1968T>G (p.His656Gln) c.1269T>G (p.His423Gln) | |
| 16 | g.3778102A>G | CA493276300 | CREBBP | c.2022T>C (p.His674=) c.1908T>C (p.His636=) c.627T>C (p.His209=) c.71T>C c.335T>C n.184T>C c.1968T>C (p.His656=) c.1269T>C (p.His423=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3778102A>T | CA394554606 | CREBBP | c.2022T>A (p.His674Gln) c.1908T>A (p.His636Gln) c.627T>A (p.His209Gln) c.71T>A c.335T>A n.184T>A c.1968T>A (p.His656Gln) c.1269T>A (p.His423Gln) | dbSNP |
| 16 | g.3778103T>A | CA394554613 | CREBBP | c.2021A>T (p.His674Leu) c.1907A>T (p.His636Leu) c.626A>T (p.His209Leu) c.70A>T c.334A>T n.183A>T c.1967A>T (p.His656Leu) c.1268A>T (p.His423Leu) | dbSNP |
| 16 | g.3778103T>C | CA394554611 | CREBBP | c.2021A>G (p.His674Arg) c.1907A>G (p.His636Arg) c.626A>G (p.His209Arg) c.70A>G c.334A>G n.183A>G c.1967A>G (p.His656Arg) c.1268A>G (p.His423Arg) | |
| 16 | g.3778103T>G | CA394554609 | CREBBP | c.2021A>C (p.His674Pro) c.1907A>C (p.His636Pro) c.626A>C (p.His209Pro) c.70A>C c.334A>C n.183A>C c.1967A>C (p.His656Pro) c.1268A>C (p.His423Pro) | |
| 16 | g.3778104G>A | CA394554615 | CREBBP | c.2020C>T (p.His674Tyr) c.1906C>T (p.His636Tyr) c.625C>T (p.His209Tyr) c.69C>T c.333C>T n.182C>T c.1966C>T (p.His656Tyr) c.1267C>T (p.His423Tyr) | dbSNP |
| 16 | g.3778104G>C | CA394554618 | CREBBP | c.2020C>G (p.His674Asp) c.1906C>G (p.His636Asp) c.625C>G (p.His209Asp) c.69C>G c.333C>G n.182C>G c.1966C>G (p.His656Asp) c.1267C>G (p.His423Asp) | dbSNP |
| 16 | g.3778104G>T | CA394554616 | CREBBP | c.2020C>A (p.His674Asn) c.1906C>A (p.His636Asn) c.625C>A (p.His209Asn) c.69C>A c.333C>A n.182C>A c.1966C>A (p.His656Asn) c.1267C>A (p.His423Asn) | dbSNP |
| 16 | g.3778105T>A | CA394554620 | CREBBP | c.2019A>T (p.Leu673Phe) c.1905A>T (p.Leu635Phe) c.624A>T (p.Leu208Phe) c.68A>T c.332A>T n.181A>T c.1965A>T (p.Leu655Phe) c.1266A>T (p.Leu422Phe) | |
| 16 | g.3778105T>C | CA493276301 | CREBBP | c.2019A>G (p.Leu673=) c.1905A>G (p.Leu635=) c.624A>G (p.Leu208=) c.68A>G c.332A>G n.181A>G c.1965A>G (p.Leu655=) c.1266A>G (p.Leu422=) | |
| 16 | g.3778105T>G | CA394554622 | CREBBP | c.2019A>C (p.Leu673Phe) c.1905A>C (p.Leu635Phe) c.624A>C (p.Leu208Phe) c.68A>C c.332A>C n.181A>C c.1965A>C (p.Leu655Phe) c.1266A>C (p.Leu422Phe) | |
| 16 | g.3778106A>C | CA394554624 | CREBBP | c.2018T>G (p.Leu673Ter) c.1904T>G (p.Leu635Ter) c.623T>G (p.Leu208Ter) c.67T>G c.331T>G n.180T>G c.1964T>G (p.Leu655Ter) c.1265T>G (p.Leu422Ter) | |
| 16 | g.3778106A>G | CA394554627 | CREBBP | c.2018T>C (p.Leu673Ser) c.1904T>C (p.Leu635Ser) c.623T>C (p.Leu208Ser) c.67T>C c.331T>C n.180T>C c.1964T>C (p.Leu655Ser) c.1265T>C (p.Leu422Ser) | |
| 16 | g.3778106A>T | CA394554625 | CREBBP | c.2018T>A (p.Leu673Ter) c.1904T>A (p.Leu635Ter) c.623T>A (p.Leu208Ter) c.67T>A c.331T>A n.180T>A c.1964T>A (p.Leu655Ter) c.1265T>A (p.Leu422Ter) | dbSNP COSMIC |
| 16 | g.3778107A>C | CA394554629 | CREBBP | c.2017T>G (p.Leu673Val) c.1903T>G (p.Leu635Val) c.622T>G (p.Leu208Val) c.66T>G c.330T>G n.179T>G c.1963T>G (p.Leu655Val) c.1264T>G (p.Leu422Val) | dbSNP |
| 16 | g.3778107A>G | CA493276302 | CREBBP | c.2017T>C (p.Leu673=) c.1903T>C (p.Leu635=) c.622T>C (p.Leu208=) c.66T>C c.330T>C n.179T>C c.1963T>C (p.Leu655=) c.1264T>C (p.Leu422=) | dbSNP |
| 16 | g.3778107A>T | CA394554630 | CREBBP | c.2017T>A (p.Leu673Ile) c.1903T>A (p.Leu635Ile) c.622T>A (p.Leu208Ile) c.66T>A c.330T>A n.179T>A c.1963T>A (p.Leu655Ile) c.1264T>A (p.Leu422Ile) | dbSNP |
| 16 | g.3778108A>C | CA493276303 | CREBBP | c.2016T>G (p.Arg672=) c.1902T>G (p.Arg634=) c.621T>G (p.Arg207=) c.65T>G c.329T>G n.178T>G c.1962T>G (p.Arg654=) c.1263T>G (p.Arg421=) | dbSNP |
| 16 | g.3778108A>G | CA493276304 | CREBBP | c.2016T>C (p.Arg672=) c.1902T>C (p.Arg634=) c.621T>C (p.Arg207=) c.65T>C c.329T>C n.178T>C c.1962T>C (p.Arg654=) c.1263T>C (p.Arg421=) | dbSNP |
| 16 | g.3778108A>T | CA493276305 | CREBBP | c.2016T>A (p.Arg672=) c.1902T>A (p.Arg634=) c.621T>A (p.Arg207=) c.65T>A c.329T>A n.178T>A c.1962T>A (p.Arg654=) c.1263T>A (p.Arg421=) | dbSNP |
| 16 | g.3778109C>A | CA394554632 | CREBBP | c.2015G>T (p.Arg672Leu) c.1901G>T (p.Arg634Leu) c.620G>T (p.Arg207Leu) c.64G>T c.328G>T n.177G>T c.1961G>T (p.Arg654Leu) c.1262G>T (p.Arg421Leu) | dbSNP |
| 16 | g.3778109C>G | CA394554633 | CREBBP | c.2015G>C (p.Arg672Pro) c.1901G>C (p.Arg634Pro) c.620G>C (p.Arg207Pro) c.64G>C c.328G>C n.177G>C c.1961G>C (p.Arg654Pro) c.1262G>C (p.Arg421Pro) | dbSNP |
| 16 | g.3778109C>T | CA394554634 | CREBBP | c.2015G>A (p.Arg672His) c.1901G>A (p.Arg634His) c.620G>A (p.Arg207His) c.64G>A c.328G>A n.177G>A c.1961G>A (p.Arg654His) c.1262G>A (p.Arg421His) | dbSNP gnomAD v4 COSMIC |
| 16 | g.3778110G>A | CA394554637 | CREBBP | c.2014C>T (p.Arg672Cys) c.1900C>T (p.Arg634Cys) c.619C>T (p.Arg207Cys) c.63C>T c.327C>T n.176C>T c.1960C>T (p.Arg654Cys) c.1261C>T (p.Arg421Cys) | ClinVar dbSNP |
| 16 | g.3778110G>C | CA394554639 | CREBBP | c.2014C>G (p.Arg672Gly) c.1900C>G (p.Arg634Gly) c.619C>G (p.Arg207Gly) c.63C>G c.327C>G n.176C>G c.1960C>G (p.Arg654Gly) c.1261C>G (p.Arg421Gly) | dbSNP |
| 16 | g.3778110G>T | CA394554641 | CREBBP | c.2014C>A (p.Arg672Ser) c.1900C>A (p.Arg634Ser) c.619C>A (p.Arg207Ser) c.63C>A c.327C>A n.176C>A c.1960C>A (p.Arg654Ser) c.1261C>A (p.Arg421Ser) | dbSNP |
| 16 | g.3778111C>A | CA7870297 | CREBBP | c.2013G>T (p.Ser671=) c.1899G>T (p.Ser633=) c.618G>T (p.Ser206=) c.62G>T c.326G>T n.175G>T c.1959G>T (p.Ser653=) c.1260G>T (p.Ser420=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3778111C= | CA2202958835 | CREBBP | c.2013G= (p.Ser671=) c.1899G= (p.Ser633=) c.618G= (p.Ser206=) c.62G= c.326G= n.175G= c.1959G= (p.Ser653=) c.1260G= (p.Ser420=) | |
| 16 | g.3778111C>G | CA493276306 | CREBBP | c.2013G>C (p.Ser671=) c.1899G>C (p.Ser633=) c.618G>C (p.Ser206=) c.62G>C c.326G>C n.175G>C c.1959G>C (p.Ser653=) c.1260G>C (p.Ser420=) | dbSNP |
| 16 | g.3778111C>T | CA7870296 | CREBBP | c.2013G>A (p.Ser671=) c.1899G>A (p.Ser633=) c.618G>A (p.Ser206=) c.62G>A c.326G>A n.175G>A c.1959G>A (p.Ser653=) c.1260G>A (p.Ser420=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3778112G>A | CA394554644 | CREBBP | c.2012C>T (p.Ser671Leu) c.1898C>T (p.Ser633Leu) c.617C>T (p.Ser206Leu) c.61C>T c.325C>T n.174C>T c.1958C>T (p.Ser653Leu) c.1259C>T (p.Ser420Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3778112G>C | CA394554645 | CREBBP | c.2012C>G (p.Ser671Trp) c.1898C>G (p.Ser633Trp) c.617C>G (p.Ser206Trp) c.61C>G c.325C>G n.174C>G c.1958C>G (p.Ser653Trp) c.1259C>G (p.Ser420Trp) | dbSNP |
| 16 | g.3778112G= | CA2202958839 | CREBBP | c.2012C= (p.Ser671=) c.1898C= (p.Ser633=) c.617C= (p.Ser206=) c.61C= c.325C= n.174C= c.1958C= (p.Ser653=) c.1259C= (p.Ser420=) |