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.3729011G>A | CA493393977 | CREBBP | c.6036C>T (p.Val2012=) c.5922C>T (p.Val1974=) c.5991C>T (p.Val1997=) c.5619C>T (p.Val1873=) c.5775C>T (p.Val1925=) c.5982C>T (p.Val1994=) c.5283C>T (p.Val1761=) c.6030C>T (p.Val2010=) | dbSNP gnomAD v4 |
| 16 | g.3729011G>C | CA493393978 | CREBBP | c.6036C>G (p.Val2012=) c.5922C>G (p.Val1974=) c.5991C>G (p.Val1997=) c.5619C>G (p.Val1873=) c.5775C>G (p.Val1925=) c.5982C>G (p.Val1994=) c.5283C>G (p.Val1761=) c.6030C>G (p.Val2010=) | dbSNP |
| 16 | g.3729011G>T | CA493393979 | CREBBP | c.6036C>A (p.Val2012=) c.5922C>A (p.Val1974=) c.5991C>A (p.Val1997=) c.5619C>A (p.Val1873=) c.5775C>A (p.Val1925=) c.5982C>A (p.Val1994=) c.5283C>A (p.Val1761=) c.6030C>A (p.Val2010=) | gnomAD v4 |
| 16 | g.3729012A= | CA2202916160 | CREBBP | c.6035T= (p.Val2012=) c.5921T= (p.Val1974=) c.5990T= (p.Val1997=) c.5618T= (p.Val1873=) c.5774T= (p.Val1925=) c.5981T= (p.Val1994=) c.5282T= (p.Val1761=) c.6029T= (p.Val2010=) | |
| 16 | g.3729012A>C | CA394554508 | CREBBP | c.6035T>G (p.Val2012Gly) c.5921T>G (p.Val1974Gly) c.5990T>G (p.Val1997Gly) c.5618T>G (p.Val1873Gly) c.5774T>G (p.Val1925Gly) c.5981T>G (p.Val1994Gly) c.5282T>G (p.Val1761Gly) c.6029T>G (p.Val2010Gly) | dbSNP |
| 16 | g.3729012A>G | CA394554509 | CREBBP | c.6035T>C (p.Val2012Ala) c.5921T>C (p.Val1974Ala) c.5990T>C (p.Val1997Ala) c.5618T>C (p.Val1873Ala) c.5774T>C (p.Val1925Ala) c.5981T>C (p.Val1994Ala) c.5282T>C (p.Val1761Ala) c.6029T>C (p.Val2010Ala) | dbSNP gnomAD v4 |
| 16 | g.3729012A>T | CA394554510 | CREBBP | c.6035T>A (p.Val2012Asp) c.5921T>A (p.Val1974Asp) c.5990T>A (p.Val1997Asp) c.5618T>A (p.Val1873Asp) c.5774T>A (p.Val1925Asp) c.5981T>A (p.Val1994Asp) c.5282T>A (p.Val1761Asp) c.6029T>A (p.Val2010Asp) | dbSNP gnomAD v2 |
| 16 | g.3729013C>A | CA7869194 | CREBBP | c.6034G>T (p.Val2012Phe) c.5920G>T (p.Val1974Phe) c.5989G>T (p.Val1997Phe) c.5617G>T (p.Val1873Phe) c.5773G>T (p.Val1925Phe) c.5980G>T (p.Val1994Phe) c.5281G>T (p.Val1761Phe) c.6028G>T (p.Val2010Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3729013C= | CA2202916161 | CREBBP | c.6034G= (p.Val2012=) c.5920G= (p.Val1974=) c.5989G= (p.Val1997=) c.5617G= (p.Val1873=) c.5773G= (p.Val1925=) c.5980G= (p.Val1994=) c.5281G= (p.Val1761=) c.6028G= (p.Val2010=) | |
| 16 | g.3729013C>G | CA394554514 | CREBBP | c.6034G>C (p.Val2012Leu) c.5920G>C (p.Val1974Leu) c.5989G>C (p.Val1997Leu) c.5617G>C (p.Val1873Leu) c.5773G>C (p.Val1925Leu) c.5980G>C (p.Val1994Leu) c.5281G>C (p.Val1761Leu) c.6028G>C (p.Val2010Leu) | dbSNP |
| 16 | g.3729013C>T | CA7869195 | CREBBP | c.6034G>A (p.Val2012Ile) c.5920G>A (p.Val1974Ile) c.5989G>A (p.Val1997Ile) c.5617G>A (p.Val1873Ile) c.5773G>A (p.Val1925Ile) c.5980G>A (p.Val1994Ile) c.5281G>A (p.Val1761Ile) c.6028G>A (p.Val2010Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729014G>A | CA7869196 | CREBBP | c.6033C>T (p.Pro2011=) c.5919C>T (p.Pro1973=) c.5988C>T (p.Pro1996=) c.5616C>T (p.Pro1872=) c.5772C>T (p.Pro1924=) c.5979C>T (p.Pro1993=) c.5280C>T (p.Pro1760=) c.6027C>T (p.Pro2009=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3729014G>C | CA493393990 | CREBBP | c.6033C>G (p.Pro2011=) c.5919C>G (p.Pro1973=) c.5988C>G (p.Pro1996=) c.5616C>G (p.Pro1872=) c.5772C>G (p.Pro1924=) c.5979C>G (p.Pro1993=) c.5280C>G (p.Pro1760=) c.6027C>G (p.Pro2009=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729014G= | CA2202916162 | CREBBP | c.6033C= (p.Pro2011=) c.5919C= (p.Pro1973=) c.5988C= (p.Pro1996=) c.5616C= (p.Pro1872=) c.5772C= (p.Pro1924=) c.5979C= (p.Pro1993=) c.5280C= (p.Pro1760=) c.6027C= (p.Pro2009=) | |
| 16 | g.3729014G>T | CA493393992 | CREBBP | c.6033C>A (p.Pro2011=) c.5919C>A (p.Pro1973=) c.5988C>A (p.Pro1996=) c.5616C>A (p.Pro1872=) c.5772C>A (p.Pro1924=) c.5979C>A (p.Pro1993=) c.5280C>A (p.Pro1760=) c.6027C>A (p.Pro2009=) | gnomAD v4 |
| 16 | g.3729016dup | CA1139664468 | CREBBP | c.6033dup (p.Val2012ArgfsTer?) c.5919dup (p.Val1974ArgfsTer?) c.5988dup (p.Val1997ArgfsTer?) c.5616dup (p.Val1873ArgfsTer?) c.5772dup (p.Val1925ArgfsTer?) c.5979dup (p.Val1994ArgfsTer?) c.5280dup (p.Val1761ArgfsTer?) c.6027dup (p.Val2010ArgfsTer?) | ClinVar dbSNP |
| 16 | g.3729015G>A | CA394554518 | CREBBP | c.6032C>T (p.Pro2011Leu) c.5918C>T (p.Pro1973Leu) c.5987C>T (p.Pro1996Leu) c.5615C>T (p.Pro1872Leu) c.5771C>T (p.Pro1924Leu) c.5978C>T (p.Pro1993Leu) c.5279C>T (p.Pro1760Leu) c.6026C>T (p.Pro2009Leu) | dbSNP |
| 16 | g.3729015G>C | CA394554520 | CREBBP | c.6032C>G (p.Pro2011Arg) c.5918C>G (p.Pro1973Arg) c.5987C>G (p.Pro1996Arg) c.5615C>G (p.Pro1872Arg) c.5771C>G (p.Pro1924Arg) c.5978C>G (p.Pro1993Arg) c.5279C>G (p.Pro1760Arg) c.6026C>G (p.Pro2009Arg) | dbSNP gnomAD v4 |
| 16 | g.3729015G= | CA2202916163 | CREBBP | c.6032C= (p.Pro2011=) c.5918C= (p.Pro1973=) c.5987C= (p.Pro1996=) c.5615C= (p.Pro1872=) c.5771C= (p.Pro1924=) c.5978C= (p.Pro1993=) c.5279C= (p.Pro1760=) c.6026C= (p.Pro2009=) | |
| 16 | g.3729015G>T | CA394554521 | CREBBP | c.6032C>A (p.Pro2011His) c.5918C>A (p.Pro1973His) c.5987C>A (p.Pro1996His) c.5615C>A (p.Pro1872His) c.5771C>A (p.Pro1924His) c.5978C>A (p.Pro1993His) c.5279C>A (p.Pro1760His) c.6026C>A (p.Pro2009His) | dbSNP gnomAD v4 |
| 16 | g.3729016G>A | CA394554523 | CREBBP | c.6031C>T (p.Pro2011Ser) c.5917C>T (p.Pro1973Ser) c.5986C>T (p.Pro1996Ser) c.5614C>T (p.Pro1872Ser) c.5770C>T (p.Pro1924Ser) c.5977C>T (p.Pro1993Ser) c.5278C>T (p.Pro1760Ser) c.6025C>T (p.Pro2009Ser) | dbSNP gnomAD v4 |
| 16 | g.3729016G>C | CA394554525 | CREBBP | c.6031C>G (p.Pro2011Ala) c.5917C>G (p.Pro1973Ala) c.5986C>G (p.Pro1996Ala) c.5614C>G (p.Pro1872Ala) c.5770C>G (p.Pro1924Ala) c.5977C>G (p.Pro1993Ala) c.5278C>G (p.Pro1760Ala) c.6025C>G (p.Pro2009Ala) | dbSNP |
| 16 | g.3729016G= | CA2202916164 | CREBBP | c.6031C= (p.Pro2011=) c.5917C= (p.Pro1973=) c.5986C= (p.Pro1996=) c.5614C= (p.Pro1872=) c.5770C= (p.Pro1924=) c.5977C= (p.Pro1993=) c.5278C= (p.Pro1760=) c.6025C= (p.Pro2009=) | |
| 16 | g.3729016G>T | CA394554527 | CREBBP | c.6031C>A (p.Pro2011Thr) c.5917C>A (p.Pro1973Thr) c.5986C>A (p.Pro1996Thr) c.5614C>A (p.Pro1872Thr) c.5770C>A (p.Pro1924Thr) c.5977C>A (p.Pro1993Thr) c.5278C>A (p.Pro1760Thr) c.6025C>A (p.Pro2009Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3729017C>A | CA493393996 | CREBBP | c.6030G>T (p.Gly2010=) c.5916G>T (p.Gly1972=) c.5985G>T (p.Gly1995=) c.5613G>T (p.Gly1871=) c.5769G>T (p.Gly1923=) c.5976G>T (p.Gly1992=) c.5277G>T (p.Gly1759=) c.6024G>T (p.Gly2008=) | dbSNP gnomAD v4 |
| 16 | g.3729017C= | CA2202916165 | CREBBP | c.6030G= (p.Gly2010=) c.5916G= (p.Gly1972=) c.5985G= (p.Gly1995=) c.5613G= (p.Gly1871=) c.5769G= (p.Gly1923=) c.5976G= (p.Gly1992=) c.5277G= (p.Gly1759=) c.6024G= (p.Gly2008=) | |
| 16 | g.3729017C>G | CA493393998 | CREBBP | c.6030G>C (p.Gly2010=) c.5916G>C (p.Gly1972=) c.5985G>C (p.Gly1995=) c.5613G>C (p.Gly1871=) c.5769G>C (p.Gly1923=) c.5976G>C (p.Gly1992=) c.5277G>C (p.Gly1759=) c.6024G>C (p.Gly2008=) | |
| 16 | g.3729017C>T | CA493393997 | CREBBP | c.6030G>A (p.Gly2010=) c.5916G>A (p.Gly1972=) c.5985G>A (p.Gly1995=) c.5613G>A (p.Gly1871=) c.5769G>A (p.Gly1923=) c.5976G>A (p.Gly1992=) c.5277G>A (p.Gly1759=) c.6024G>A (p.Gly2008=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3729018C>A | CA7869197 | CREBBP | c.6029G>T (p.Gly2010Val) c.5915G>T (p.Gly1972Val) c.5984G>T (p.Gly1995Val) c.5612G>T (p.Gly1871Val) c.5768G>T (p.Gly1923Val) c.5975G>T (p.Gly1992Val) c.5276G>T (p.Gly1759Val) c.6023G>T (p.Gly2008Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729018C= | CA2202916166 | CREBBP | c.6029G= (p.Gly2010=) c.5915G= (p.Gly1972=) c.5984G= (p.Gly1995=) c.5612G= (p.Gly1871=) c.5768G= (p.Gly1923=) c.5975G= (p.Gly1992=) c.5276G= (p.Gly1759=) c.6023G= (p.Gly2008=) | |
| 16 | g.3729018C>G | CA394554530 | CREBBP | c.6029G>C (p.Gly2010Ala) c.5915G>C (p.Gly1972Ala) c.5984G>C (p.Gly1995Ala) c.5612G>C (p.Gly1871Ala) c.5768G>C (p.Gly1923Ala) c.5975G>C (p.Gly1992Ala) c.5276G>C (p.Gly1759Ala) c.6023G>C (p.Gly2008Ala) | dbSNP |
| 16 | g.3729018C>T | CA394554532 | CREBBP | c.6029G>A (p.Gly2010Glu) c.5915G>A (p.Gly1972Glu) c.5984G>A (p.Gly1995Glu) c.5612G>A (p.Gly1871Glu) c.5768G>A (p.Gly1923Glu) c.5975G>A (p.Gly1992Glu) c.5276G>A (p.Gly1759Glu) c.6023G>A (p.Gly2008Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3729019C>A | CA394554535 | CREBBP | c.6028G>T (p.Gly2010Trp) c.5914G>T (p.Gly1972Trp) c.5983G>T (p.Gly1995Trp) c.5611G>T (p.Gly1871Trp) c.5767G>T (p.Gly1923Trp) c.5974G>T (p.Gly1992Trp) c.5275G>T (p.Gly1759Trp) c.6022G>T (p.Gly2008Trp) | dbSNP gnomAD v4 |
| 16 | g.3729019C= | CA2202916167 | CREBBP | c.6028G= (p.Gly2010=) c.5914G= (p.Gly1972=) c.5983G= (p.Gly1995=) c.5611G= (p.Gly1871=) c.5767G= (p.Gly1923=) c.5974G= (p.Gly1992=) c.5275G= (p.Gly1759=) c.6022G= (p.Gly2008=) | |
| 16 | g.3729019C>G | CA394554536 | CREBBP | c.6028G>C (p.Gly2010Arg) c.5914G>C (p.Gly1972Arg) c.5983G>C (p.Gly1995Arg) c.5611G>C (p.Gly1871Arg) c.5767G>C (p.Gly1923Arg) c.5974G>C (p.Gly1992Arg) c.5275G>C (p.Gly1759Arg) c.6022G>C (p.Gly2008Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3729019C>T | CA7869198 | CREBBP | c.6028G>A (p.Gly2010Arg) c.5914G>A (p.Gly1972Arg) c.5983G>A (p.Gly1995Arg) c.5611G>A (p.Gly1871Arg) c.5767G>A (p.Gly1923Arg) c.5974G>A (p.Gly1992Arg) c.5275G>A (p.Gly1759Arg) c.6022G>A (p.Gly2008Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3729020G>A | CA7869199 | CREBBP | c.6027C>T (p.Ser2009=) c.5913C>T (p.Ser1971=) c.5982C>T (p.Ser1994=) c.5610C>T (p.Ser1870=) c.5766C>T (p.Ser1922=) c.5973C>T (p.Ser1991=) c.5274C>T (p.Ser1758=) c.6021C>T (p.Ser2007=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729020G>C | CA394554540 | CREBBP | c.6027C>G (p.Ser2009Arg) c.5913C>G (p.Ser1971Arg) c.5982C>G (p.Ser1994Arg) c.5610C>G (p.Ser1870Arg) c.5766C>G (p.Ser1922Arg) c.5973C>G (p.Ser1991Arg) c.5274C>G (p.Ser1758Arg) c.6021C>G (p.Ser2007Arg) | dbSNP |
| 16 | g.3729020G= | CA2202916168 | CREBBP | c.6027C= (p.Ser2009=) c.5913C= (p.Ser1971=) c.5982C= (p.Ser1994=) c.5610C= (p.Ser1870=) c.5766C= (p.Ser1922=) c.5973C= (p.Ser1991=) c.5274C= (p.Ser1758=) c.6021C= (p.Ser2007=) | |
| 16 | g.3729020G>T | CA394554542 | CREBBP | c.6027C>A (p.Ser2009Arg) c.5913C>A (p.Ser1971Arg) c.5982C>A (p.Ser1994Arg) c.5610C>A (p.Ser1870Arg) c.5766C>A (p.Ser1922Arg) c.5973C>A (p.Ser1991Arg) c.5274C>A (p.Ser1758Arg) c.6021C>A (p.Ser2007Arg) | gnomAD v4 |
| 16 | g.3729021C>A | CA394554545 | CREBBP | c.6026G>T (p.Ser2009Ile) c.5912G>T (p.Ser1971Ile) c.5981G>T (p.Ser1994Ile) c.5609G>T (p.Ser1870Ile) c.5765G>T (p.Ser1922Ile) c.5972G>T (p.Ser1991Ile) c.5273G>T (p.Ser1758Ile) c.6020G>T (p.Ser2007Ile) | gnomAD v4 |
| 16 | g.3729021C>G | CA394554546 | CREBBP | c.6026G>C (p.Ser2009Thr) c.5912G>C (p.Ser1971Thr) c.5981G>C (p.Ser1994Thr) c.5609G>C (p.Ser1870Thr) c.5765G>C (p.Ser1922Thr) c.5972G>C (p.Ser1991Thr) c.5273G>C (p.Ser1758Thr) c.6020G>C (p.Ser2007Thr) | dbSNP gnomAD v4 |
| 16 | g.3729021C>T | CA394554548 | CREBBP | c.6026G>A (p.Ser2009Asn) c.5912G>A (p.Ser1971Asn) c.5981G>A (p.Ser1994Asn) c.5609G>A (p.Ser1870Asn) c.5765G>A (p.Ser1922Asn) c.5972G>A (p.Ser1991Asn) c.5273G>A (p.Ser1758Asn) c.6020G>A (p.Ser2007Asn) | dbSNP gnomAD v4 |
| 16 | g.3729022T>A | CA394554550 | CREBBP | c.6025A>T (p.Ser2009Cys) c.5911A>T (p.Ser1971Cys) c.5980A>T (p.Ser1994Cys) c.5608A>T (p.Ser1870Cys) c.5764A>T (p.Ser1922Cys) c.5971A>T (p.Ser1991Cys) c.5272A>T (p.Ser1758Cys) c.6019A>T (p.Ser2007Cys) | dbSNP gnomAD v4 |
| 16 | g.3729022T>C | CA394554552 | CREBBP | c.6025A>G (p.Ser2009Gly) c.5911A>G (p.Ser1971Gly) c.5980A>G (p.Ser1994Gly) c.5608A>G (p.Ser1870Gly) c.5764A>G (p.Ser1922Gly) c.5971A>G (p.Ser1991Gly) c.5272A>G (p.Ser1758Gly) c.6019A>G (p.Ser2007Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3729022T>G | CA394554554 | CREBBP | c.6025A>C (p.Ser2009Arg) c.5911A>C (p.Ser1971Arg) c.5980A>C (p.Ser1994Arg) c.5608A>C (p.Ser1870Arg) c.5764A>C (p.Ser1922Arg) c.5971A>C (p.Ser1991Arg) c.5272A>C (p.Ser1758Arg) c.6019A>C (p.Ser2007Arg) | |
| 16 | g.3729022T= | CA2202916169 | CREBBP | c.6025A= (p.Ser2009=) c.5911A= (p.Ser1971=) c.5980A= (p.Ser1994=) c.5608A= (p.Ser1870=) c.5764A= (p.Ser1922=) c.5971A= (p.Ser1991=) c.5272A= (p.Ser1758=) c.6019A= (p.Ser2007=) | |
| 16 | g.3729023C>A | CA493394171 | CREBBP | c.6024G>T (p.Val2008=) c.5910G>T (p.Val1970=) c.5979G>T (p.Val1993=) c.5607G>T (p.Val1869=) c.5763G>T (p.Val1921=) c.5970G>T (p.Val1990=) c.5271G>T (p.Val1757=) c.6018G>T (p.Val2006=) | dbSNP gnomAD v4 |
| 16 | g.3729023C>G | CA493394172 | CREBBP | c.6024G>C (p.Val2008=) c.5910G>C (p.Val1970=) c.5979G>C (p.Val1993=) c.5607G>C (p.Val1869=) c.5763G>C (p.Val1921=) c.5970G>C (p.Val1990=) c.5271G>C (p.Val1757=) c.6018G>C (p.Val2006=) | dbSNP gnomAD v4 |
| 16 | g.3729023C>T | CA493394173 | CREBBP | c.6024G>A (p.Val2008=) c.5910G>A (p.Val1970=) c.5979G>A (p.Val1993=) c.5607G>A (p.Val1869=) c.5763G>A (p.Val1921=) c.5970G>A (p.Val1990=) c.5271G>A (p.Val1757=) c.6018G>A (p.Val2006=) | dbSNP gnomAD v4 |