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 |
|---|---|---|---|---|---|
| 16 | g.3780736del | CA271367 | CREBBP | c.1821del (p.Lys607AsnfsTer15) c.1707del (p.Lys569AsnfsTer15) c.426del (p.Lys142AsnfsTer15) c.134del c.1767del (p.Lys589AsnfsTer15) c.1068del (p.Lys356AsnfsTer15) | ClinVar dbSNP |
| 16 | g.3780736T>A | CA394556294 | CREBBP | c.1819A>T (p.Lys607Ter) c.1705A>T (p.Lys569Ter) c.424A>T (p.Lys142Ter) c.132A>T c.1765A>T (p.Lys589Ter) c.1066A>T (p.Lys356Ter) | |
| 16 | g.3780736T>C | CA394556297 | CREBBP | c.1819A>G (p.Lys607Glu) c.1705A>G (p.Lys569Glu) c.424A>G (p.Lys142Glu) c.132A>G c.1765A>G (p.Lys589Glu) c.1066A>G (p.Lys356Glu) | |
| 16 | g.3780736T>G | CA394556295 | CREBBP | c.1819A>C (p.Lys607Gln) c.1705A>C (p.Lys569Gln) c.424A>C (p.Lys142Gln) c.132A>C c.1765A>C (p.Lys589Gln) c.1066A>C (p.Lys356Gln) | |
| 16 | g.3780737A>C | CA394556300 | CREBBP | c.1818T>G (p.His606Gln) c.1704T>G (p.His568Gln) c.423T>G (p.His141Gln) c.131T>G c.1764T>G (p.His588Gln) c.1065T>G (p.His355Gln) | |
| 16 | g.3780737A>G | CA493276486 | CREBBP | c.1818T>C (p.His606=) c.1704T>C (p.His568=) c.423T>C (p.His141=) c.131T>C c.1764T>C (p.His588=) c.1065T>C (p.His355=) | |
| 16 | g.3780737A>T | CA394556301 | CREBBP | c.1818T>A (p.His606Gln) c.1704T>A (p.His568Gln) c.423T>A (p.His141Gln) c.131T>A c.1764T>A (p.His588Gln) c.1065T>A (p.His355Gln) | |
| 16 | g.3780738T>A | CA394556304 | CREBBP | c.1817A>T (p.His606Leu) c.1703A>T (p.His568Leu) c.422A>T (p.His141Leu) c.130A>T c.1763A>T (p.His588Leu) c.1064A>T (p.His355Leu) | |
| 16 | g.3780738T>C | CA394556306 | CREBBP | c.1817A>G (p.His606Arg) c.1703A>G (p.His568Arg) c.422A>G (p.His141Arg) c.130A>G c.1763A>G (p.His588Arg) c.1064A>G (p.His355Arg) | |
| 16 | g.3780738T>G | CA394556307 | CREBBP | c.1817A>C (p.His606Pro) c.1703A>C (p.His568Pro) c.422A>C (p.His141Pro) c.130A>C c.1763A>C (p.His588Pro) c.1064A>C (p.His355Pro) | |
| 16 | g.3780739G>A | CA394556310 | CREBBP | c.1816C>T (p.His606Tyr) c.1702C>T (p.His568Tyr) c.421C>T (p.His141Tyr) c.129C>T c.1762C>T (p.His588Tyr) c.1063C>T (p.His355Tyr) | |
| 16 | g.3780739G>C | CA394556311 | CREBBP | c.1816C>G (p.His606Asp) c.1702C>G (p.His568Asp) c.421C>G (p.His141Asp) c.129C>G c.1762C>G (p.His588Asp) c.1063C>G (p.His355Asp) | |
| 16 | g.3780739G>T | CA394556314 | CREBBP | c.1816C>A (p.His606Asn) c.1702C>A (p.His568Asn) c.421C>A (p.His141Asn) c.129C>A c.1762C>A (p.His588Asn) c.1063C>A (p.His355Asn) | |
| 16 | g.3780740C>A | CA493276487 | CREBBP | c.1815G>T (p.Val605=) c.1701G>T (p.Val567=) c.420G>T (p.Val140=) c.128G>T c.1761G>T (p.Val587=) c.1062G>T (p.Val354=) | |
| 16 | g.3780740C>G | CA493276488 | CREBBP | c.1815G>C (p.Val605=) c.1701G>C (p.Val567=) c.420G>C (p.Val140=) c.128G>C c.1761G>C (p.Val587=) c.1062G>C (p.Val354=) | |
| 16 | g.3780740C>T | CA493276489 | CREBBP | c.1815G>A (p.Val605=) c.1701G>A (p.Val567=) c.420G>A (p.Val140=) c.128G>A c.1761G>A (p.Val587=) c.1062G>A (p.Val354=) | |
| 16 | g.3780741A>C | CA394556316 | CREBBP | c.1814T>G (p.Val605Gly) c.1700T>G (p.Val567Gly) c.419T>G (p.Val140Gly) c.127T>G c.1760T>G (p.Val587Gly) c.1061T>G (p.Val354Gly) | |
| 16 | g.3780741A>G | CA394556318 | CREBBP | c.1814T>C (p.Val605Ala) c.1700T>C (p.Val567Ala) c.419T>C (p.Val140Ala) c.127T>C c.1760T>C (p.Val587Ala) c.1061T>C (p.Val354Ala) | |
| 16 | g.3780741A>T | CA394556320 | CREBBP | c.1814T>A (p.Val605Glu) c.1700T>A (p.Val567Glu) c.419T>A (p.Val140Glu) c.127T>A c.1760T>A (p.Val587Glu) c.1061T>A (p.Val354Glu) | |
| 16 | g.3780742C>A | CA394556324 | CREBBP | c.1813G>T (p.Val605Leu) c.1699G>T (p.Val567Leu) c.418G>T (p.Val140Leu) c.126G>T c.1759G>T (p.Val587Leu) c.1060G>T (p.Val354Leu) | |
| 16 | g.3780742C>G | CA394556322 | CREBBP | c.1813G>C (p.Val605Leu) c.1699G>C (p.Val567Leu) c.418G>C (p.Val140Leu) c.126G>C c.1759G>C (p.Val587Leu) c.1060G>C (p.Val354Leu) | |
| 16 | g.3780742C>T | CA394556323 | CREBBP | c.1813G>A (p.Val605Met) c.1699G>A (p.Val567Met) c.418G>A (p.Val140Met) c.126G>A c.1759G>A (p.Val587Met) c.1060G>A (p.Val354Met) | |
| 16 | g.3780743T>A | CA493276492 | CREBBP | c.1812A>T (p.Leu604=) c.1698A>T (p.Leu566=) c.417A>T (p.Leu139=) c.125A>T c.1758A>T (p.Leu586=) c.1059A>T (p.Leu353=) | |
| 16 | g.3780743T>C | CA276975648 | CREBBP | c.1812A>G (p.Leu604=) c.1698A>G (p.Leu566=) c.417A>G (p.Leu139=) c.125A>G c.1758A>G (p.Leu586=) c.1059A>G (p.Leu353=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3780743T>G | CA493276493 | CREBBP | c.1812A>C (p.Leu604=) c.1698A>C (p.Leu566=) c.417A>C (p.Leu139=) c.125A>C c.1758A>C (p.Leu586=) c.1059A>C (p.Leu353=) | |
| 16 | g.3780743T= | CA2202961895 | CREBBP | c.1812A= (p.Leu604=) c.1698A= (p.Leu566=) c.417A= (p.Leu139=) c.125A= c.1758A= (p.Leu586=) c.1059A= (p.Leu353=) | |
| 16 | g.3780744A>C | CA394556327 | CREBBP | c.1811T>G (p.Leu604Arg) c.1697T>G (p.Leu566Arg) c.416T>G (p.Leu139Arg) c.124T>G c.1757T>G (p.Leu586Arg) c.1058T>G (p.Leu353Arg) | |
| 16 | g.3780744A>G | CA394556329 | CREBBP | c.1811T>C (p.Leu604Pro) c.1697T>C (p.Leu566Pro) c.416T>C (p.Leu139Pro) c.124T>C c.1757T>C (p.Leu586Pro) c.1058T>C (p.Leu353Pro) | |
| 16 | g.3780744A>T | CA394556331 | CREBBP | c.1811T>A (p.Leu604Gln) c.1697T>A (p.Leu566Gln) c.416T>A (p.Leu139Gln) c.124T>A c.1757T>A (p.Leu586Gln) c.1058T>A (p.Leu353Gln) | |
| 16 | g.3780745G>A | CA493276494 | CREBBP | c.1810C>T (p.Leu604=) c.1696C>T (p.Leu566=) c.415C>T (p.Leu139=) c.123C>T c.1756C>T (p.Leu586=) c.1057C>T (p.Leu353=) | COSMIC |
| 16 | g.3780745G>C | CA394556333 | CREBBP | c.1810C>G (p.Leu604Val) c.1696C>G (p.Leu566Val) c.415C>G (p.Leu139Val) c.123C>G c.1756C>G (p.Leu586Val) c.1057C>G (p.Leu353Val) | |
| 16 | g.3780745G>T | CA394556335 | CREBBP | c.1810C>A (p.Leu604Ile) c.1696C>A (p.Leu566Ile) c.415C>A (p.Leu139Ile) c.123C>A c.1756C>A (p.Leu586Ile) c.1057C>A (p.Leu353Ile) | |
| 16 | g.3780746A= | CA2202961897 | CREBBP | c.1809T= (p.His603=) c.1695T= (p.His565=) c.414T= (p.His138=) c.122T= c.1755T= (p.His585=) c.1056T= (p.His352=) | |
| 16 | g.3780746A>C | CA394556336 | CREBBP | c.1809T>G (p.His603Gln) c.1695T>G (p.His565Gln) c.414T>G (p.His138Gln) c.122T>G c.1755T>G (p.His585Gln) c.1056T>G (p.His352Gln) | |
| 16 | g.3780746A>G | CA493276496 | CREBBP | c.1809T>C (p.His603=) c.1695T>C (p.His565=) c.414T>C (p.His138=) c.122T>C c.1755T>C (p.His585=) c.1056T>C (p.His352=) | dbSNP gnomAD v4 |
| 16 | g.3780746A>T | CA394556337 | CREBBP | c.1809T>A (p.His603Gln) c.1695T>A (p.His565Gln) c.414T>A (p.His138Gln) c.122T>A c.1755T>A (p.His585Gln) c.1056T>A (p.His352Gln) | |
| 16 | g.3780747T>A | CA394556339 | CREBBP | c.1808A>T (p.His603Leu) c.1694A>T (p.His565Leu) c.413A>T (p.His138Leu) c.121A>T c.1754A>T (p.His585Leu) c.1055A>T (p.His352Leu) | |
| 16 | g.3780747T>C | CA394556341 | CREBBP | c.1808A>G (p.His603Arg) c.1694A>G (p.His565Arg) c.413A>G (p.His138Arg) c.121A>G c.1754A>G (p.His585Arg) c.1055A>G (p.His352Arg) | |
| 16 | g.3780747T>G | CA394556343 | CREBBP | c.1808A>C (p.His603Pro) c.1694A>C (p.His565Pro) c.413A>C (p.His138Pro) c.121A>C c.1754A>C (p.His585Pro) c.1055A>C (p.His352Pro) | |
| 16 | g.3780748G>A | CA394556347 | CREBBP | c.1807C>T (p.His603Tyr) c.1693C>T (p.His565Tyr) c.412C>T (p.His138Tyr) c.120C>T c.1753C>T (p.His585Tyr) c.1054C>T (p.His352Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3780748G>C | CA394556349 | CREBBP | c.1807C>G (p.His603Asp) c.1693C>G (p.His565Asp) c.412C>G (p.His138Asp) c.120C>G c.1753C>G (p.His585Asp) c.1054C>G (p.His352Asp) | |
| 16 | g.3780748G= | CA2202961898 | CREBBP | c.1807C= (p.His603=) c.1693C= (p.His565=) c.412C= (p.His138=) c.120C= c.1753C= (p.His585=) c.1054C= (p.His352=) | |
| 16 | g.3780748G>T | CA394556345 | CREBBP | c.1807C>A (p.His603Asn) c.1693C>A (p.His565Asn) c.412C>A (p.His138Asn) c.120C>A c.1753C>A (p.His585Asn) c.1054C>A (p.His352Asn) | |
| 16 | g.3780749G>A | CA493276498 | CREBBP | c.1806C>T (p.Ser602=) c.1692C>T (p.Ser564=) c.411C>T (p.Ser137=) c.119C>T c.1752C>T (p.Ser584=) c.1053C>T (p.Ser351=) | dbSNP gnomAD v4 |
| 16 | g.3780749G>C | CA394556351 | CREBBP | c.1806C>G (p.Ser602Arg) c.1692C>G (p.Ser564Arg) c.411C>G (p.Ser137Arg) c.119C>G c.1752C>G (p.Ser584Arg) c.1053C>G (p.Ser351Arg) | |
| 16 | g.3780749G= | CA2202961900 | CREBBP | c.1806C= (p.Ser602=) c.1692C= (p.Ser564=) c.411C= (p.Ser137=) c.119C= c.1752C= (p.Ser584=) c.1053C= (p.Ser351=) | |
| 16 | g.3780749G>T | CA394556353 | CREBBP | c.1806C>A (p.Ser602Arg) c.1692C>A (p.Ser564Arg) c.411C>A (p.Ser137Arg) c.119C>A c.1752C>A (p.Ser584Arg) c.1053C>A (p.Ser351Arg) | |
| 16 | g.3780750C>A | CA394556356 | CREBBP | c.1805G>T (p.Ser602Ile) c.1691G>T (p.Ser564Ile) c.410G>T (p.Ser137Ile) c.118G>T c.1751G>T (p.Ser584Ile) c.1052G>T (p.Ser351Ile) | |
| 16 | g.3780750C>G | CA394556358 | CREBBP | c.1805G>C (p.Ser602Thr) c.1691G>C (p.Ser564Thr) c.410G>C (p.Ser137Thr) c.118G>C c.1751G>C (p.Ser584Thr) c.1052G>C (p.Ser351Thr) | |
| 16 | g.3780750C>T | CA394556360 | CREBBP | c.1805G>A (p.Ser602Asn) c.1691G>A (p.Ser564Asn) c.410G>A (p.Ser137Asn) c.118G>A c.1751G>A (p.Ser584Asn) c.1052G>A (p.Ser351Asn) | COSMIC |