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.3729108_3729111delinsCTGT | CA2202916227 | CREBBP | c.5936_5939delinsACAG (p.Asn1979=) c.5822_5825delinsACAG (p.Asn1941=) c.5891_5894delinsACAG (p.Asn1964=) c.5519_5522delinsACAG (p.Asn1840=) c.5675_5678delinsACAG (p.Asn1892=) c.5882_5885delinsACAG (p.Asn1961=) c.5183_5186delinsACAG (p.Asn1728=) c.5930_5933delinsACAG (p.Asn1977=) | |
| 16 | g.3729114_3729116dup | CA2202916228 | CREBBP | c.5936_5938dup (p.Asn1979_Ser1980insAsn) c.5822_5824dup (p.Asn1941_Ser1942insAsn) c.5891_5893dup (p.Asn1964_Ser1965insAsn) c.5519_5521dup (p.Asn1840_Ser1841insAsn) c.5675_5677dup (p.Asn1892_Ser1893insAsn) c.5882_5884dup (p.Asn1961_Ser1962insAsn) c.5183_5185dup (p.Asn1728_Ser1729insAsn) c.5930_5932dup (p.Asn1977_Ser1978insAsn) | dbSNP |
| 16 | g.3729114_3729116del | CA7869219 | CREBBP | c.5936_5938del (p.Asn1979del) c.5822_5824del (p.Asn1941del) c.5891_5893del (p.Asn1964del) c.5519_5521del (p.Asn1840del) c.5675_5677del (p.Asn1892del) c.5882_5884del (p.Asn1961del) c.5183_5185del (p.Asn1728del) c.5930_5932del (p.Asn1977del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729111T>A | CA394554921 | CREBBP | c.5936A>T (p.Asn1979Ile) c.5822A>T (p.Asn1941Ile) c.5891A>T (p.Asn1964Ile) c.5519A>T (p.Asn1840Ile) c.5675A>T (p.Asn1892Ile) c.5882A>T (p.Asn1961Ile) c.5183A>T (p.Asn1728Ile) c.5930A>T (p.Asn1977Ile) | dbSNP |
| 16 | g.3729111T>C | CA394554919 | CREBBP | c.5936A>G (p.Asn1979Ser) c.5822A>G (p.Asn1941Ser) c.5891A>G (p.Asn1964Ser) c.5519A>G (p.Asn1840Ser) c.5675A>G (p.Asn1892Ser) c.5882A>G (p.Asn1961Ser) c.5183A>G (p.Asn1728Ser) c.5930A>G (p.Asn1977Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3729111T>G | CA394554917 | CREBBP | c.5936A>C (p.Asn1979Thr) c.5822A>C (p.Asn1941Thr) c.5891A>C (p.Asn1964Thr) c.5519A>C (p.Asn1840Thr) c.5675A>C (p.Asn1892Thr) c.5882A>C (p.Asn1961Thr) c.5183A>C (p.Asn1728Thr) c.5930A>C (p.Asn1977Thr) | dbSNP |
| 16 | g.3729111T= | CA2202916231 | CREBBP | c.5936A= (p.Asn1979=) c.5822A= (p.Asn1941=) c.5891A= (p.Asn1964=) c.5519A= (p.Asn1840=) c.5675A= (p.Asn1892=) c.5882A= (p.Asn1961=) c.5183A= (p.Asn1728=) c.5930A= (p.Asn1977=) | |
| 16 | g.3729112T>A | CA394554924 | CREBBP | c.5935A>T (p.Asn1979Tyr) c.5821A>T (p.Asn1941Tyr) c.5890A>T (p.Asn1964Tyr) c.5518A>T (p.Asn1840Tyr) c.5674A>T (p.Asn1892Tyr) c.5881A>T (p.Asn1961Tyr) c.5182A>T (p.Asn1728Tyr) c.5929A>T (p.Asn1977Tyr) | |
| 16 | g.3729112T>C | CA394554925 | CREBBP | c.5935A>G (p.Asn1979Asp) c.5821A>G (p.Asn1941Asp) c.5890A>G (p.Asn1964Asp) c.5518A>G (p.Asn1840Asp) c.5674A>G (p.Asn1892Asp) c.5881A>G (p.Asn1961Asp) c.5182A>G (p.Asn1728Asp) c.5929A>G (p.Asn1977Asp) | |
| 16 | g.3729112T>G | CA394554926 | CREBBP | c.5935A>C (p.Asn1979His) c.5821A>C (p.Asn1941His) c.5890A>C (p.Asn1964His) c.5518A>C (p.Asn1840His) c.5674A>C (p.Asn1892His) c.5881A>C (p.Asn1961His) c.5182A>C (p.Asn1728His) c.5929A>C (p.Asn1977His) | |
| 16 | g.3729113G>A | CA7869221 | CREBBP | c.5934C>T (p.Asn1978=) c.5820C>T (p.Asn1940=) c.5889C>T (p.Asn1963=) c.5517C>T (p.Asn1839=) c.5673C>T (p.Asn1891=) c.5880C>T (p.Asn1960=) c.5181C>T (p.Asn1727=) c.5928C>T (p.Asn1976=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729113G>C | CA7869222 | CREBBP | c.5934C>G (p.Asn1978Lys) c.5820C>G (p.Asn1940Lys) c.5889C>G (p.Asn1963Lys) c.5517C>G (p.Asn1839Lys) c.5673C>G (p.Asn1891Lys) c.5880C>G (p.Asn1960Lys) c.5181C>G (p.Asn1727Lys) c.5928C>G (p.Asn1976Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3729113G= | CA2202916232 | CREBBP | c.5934C= (p.Asn1978=) c.5820C= (p.Asn1940=) c.5889C= (p.Asn1963=) c.5517C= (p.Asn1839=) c.5673C= (p.Asn1891=) c.5880C= (p.Asn1960=) c.5181C= (p.Asn1727=) c.5928C= (p.Asn1976=) | |
| 16 | g.3729113G>T | CA394554930 | CREBBP | c.5934C>A (p.Asn1978Lys) c.5820C>A (p.Asn1940Lys) c.5889C>A (p.Asn1963Lys) c.5517C>A (p.Asn1839Lys) c.5673C>A (p.Asn1891Lys) c.5880C>A (p.Asn1960Lys) c.5181C>A (p.Asn1727Lys) c.5928C>A (p.Asn1976Lys) | gnomAD v4 |
| 16 | g.3729114T>A | CA7869223 | CREBBP | c.5933A>T (p.Asn1978Ile) c.5819A>T (p.Asn1940Ile) c.5888A>T (p.Asn1963Ile) c.5516A>T (p.Asn1839Ile) c.5672A>T (p.Asn1891Ile) c.5879A>T (p.Asn1960Ile) c.5180A>T (p.Asn1727Ile) c.5927A>T (p.Asn1976Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3729114T>C | CA148132 | CREBBP | c.5933A>G (p.Asn1978Ser) c.5819A>G (p.Asn1940Ser) c.5888A>G (p.Asn1963Ser) c.5516A>G (p.Asn1839Ser) c.5672A>G (p.Asn1891Ser) c.5879A>G (p.Asn1960Ser) c.5180A>G (p.Asn1727Ser) c.5927A>G (p.Asn1976Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3729114T>G | CA394554934 | CREBBP | c.5933A>C (p.Asn1978Thr) c.5819A>C (p.Asn1940Thr) c.5888A>C (p.Asn1963Thr) c.5516A>C (p.Asn1839Thr) c.5672A>C (p.Asn1891Thr) c.5879A>C (p.Asn1960Thr) c.5180A>C (p.Asn1727Thr) c.5927A>C (p.Asn1976Thr) | dbSNP |
| 16 | g.3729114T= | CA2202916233 | CREBBP | c.5933A= (p.Asn1978=) c.5819A= (p.Asn1940=) c.5888A= (p.Asn1963=) c.5516A= (p.Asn1839=) c.5672A= (p.Asn1891=) c.5879A= (p.Asn1960=) c.5180A= (p.Asn1727=) c.5927A= (p.Asn1976=) | |
| 16 | g.3729115T>A | CA394554936 | CREBBP | c.5932A>T (p.Asn1978Tyr) c.5818A>T (p.Asn1940Tyr) c.5887A>T (p.Asn1963Tyr) c.5515A>T (p.Asn1839Tyr) c.5671A>T (p.Asn1891Tyr) c.5878A>T (p.Asn1960Tyr) c.5179A>T (p.Asn1727Tyr) c.5926A>T (p.Asn1976Tyr) | dbSNP |
| 16 | g.3729115T>C | CA394554937 | CREBBP | c.5932A>G (p.Asn1978Asp) c.5818A>G (p.Asn1940Asp) c.5887A>G (p.Asn1963Asp) c.5515A>G (p.Asn1839Asp) c.5671A>G (p.Asn1891Asp) c.5878A>G (p.Asn1960Asp) c.5179A>G (p.Asn1727Asp) c.5926A>G (p.Asn1976Asp) | dbSNP gnomAD v4 COSMIC |
| 16 | g.3729115T>G | CA394554939 | CREBBP | c.5932A>C (p.Asn1978His) c.5818A>C (p.Asn1940His) c.5887A>C (p.Asn1963His) c.5515A>C (p.Asn1839His) c.5671A>C (p.Asn1891His) c.5878A>C (p.Asn1960His) c.5179A>C (p.Asn1727His) c.5926A>C (p.Asn1976His) | |
| 16 | g.3729116G>A | CA493394314 | CREBBP | c.5931C>T (p.Ile1977=) c.5817C>T (p.Ile1939=) c.5886C>T (p.Ile1962=) c.5514C>T (p.Ile1838=) c.5670C>T (p.Ile1890=) c.5877C>T (p.Ile1959=) c.5178C>T (p.Ile1726=) c.5925C>T (p.Ile1975=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3729116G>C | CA394554941 | CREBBP | c.5931C>G (p.Ile1977Met) c.5817C>G (p.Ile1939Met) c.5886C>G (p.Ile1962Met) c.5514C>G (p.Ile1838Met) c.5670C>G (p.Ile1890Met) c.5877C>G (p.Ile1959Met) c.5178C>G (p.Ile1726Met) c.5925C>G (p.Ile1975Met) | gnomAD v4 |
| 16 | g.3729116G= | CA2202916234 | CREBBP | c.5931C= (p.Ile1977=) c.5817C= (p.Ile1939=) c.5886C= (p.Ile1962=) c.5514C= (p.Ile1838=) c.5670C= (p.Ile1890=) c.5877C= (p.Ile1959=) c.5178C= (p.Ile1726=) c.5925C= (p.Ile1975=) | |
| 16 | g.3729116G>T | CA493394313 | CREBBP | c.5931C>A (p.Ile1977=) c.5817C>A (p.Ile1939=) c.5886C>A (p.Ile1962=) c.5514C>A (p.Ile1838=) c.5670C>A (p.Ile1890=) c.5877C>A (p.Ile1959=) c.5178C>A (p.Ile1726=) c.5925C>A (p.Ile1975=) | dbSNP gnomAD v4 |
| 16 | g.3729117A= | CA2202916235 | CREBBP | c.5930T= (p.Ile1977=) c.5816T= (p.Ile1939=) c.5885T= (p.Ile1962=) c.5513T= (p.Ile1838=) c.5669T= (p.Ile1890=) c.5876T= (p.Ile1959=) c.5177T= (p.Ile1726=) c.5924T= (p.Ile1975=) | |
| 16 | g.3729117A>C | CA394554944 | CREBBP | c.5930T>G (p.Ile1977Ser) c.5816T>G (p.Ile1939Ser) c.5885T>G (p.Ile1962Ser) c.5513T>G (p.Ile1838Ser) c.5669T>G (p.Ile1890Ser) c.5876T>G (p.Ile1959Ser) c.5177T>G (p.Ile1726Ser) c.5924T>G (p.Ile1975Ser) | |
| 16 | g.3729117A>G | CA394554946 | CREBBP | c.5930T>C (p.Ile1977Thr) c.5816T>C (p.Ile1939Thr) c.5885T>C (p.Ile1962Thr) c.5513T>C (p.Ile1838Thr) c.5669T>C (p.Ile1890Thr) c.5876T>C (p.Ile1959Thr) c.5177T>C (p.Ile1726Thr) c.5924T>C (p.Ile1975Thr) | dbSNP |
| 16 | g.3729117A>T | CA7869224 | CREBBP | c.5930T>A (p.Ile1977Asn) c.5816T>A (p.Ile1939Asn) c.5885T>A (p.Ile1962Asn) c.5513T>A (p.Ile1838Asn) c.5669T>A (p.Ile1890Asn) c.5876T>A (p.Ile1959Asn) c.5177T>A (p.Ile1726Asn) c.5924T>A (p.Ile1975Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729118T>A | CA394554948 | CREBBP | c.5929A>T (p.Ile1977Phe) c.5815A>T (p.Ile1939Phe) c.5884A>T (p.Ile1962Phe) c.5512A>T (p.Ile1838Phe) c.5668A>T (p.Ile1890Phe) c.5875A>T (p.Ile1959Phe) c.5176A>T (p.Ile1726Phe) c.5923A>T (p.Ile1975Phe) | |
| 16 | g.3729118T>C | CA394554950 | CREBBP | c.5929A>G (p.Ile1977Val) c.5815A>G (p.Ile1939Val) c.5884A>G (p.Ile1962Val) c.5512A>G (p.Ile1838Val) c.5668A>G (p.Ile1890Val) c.5875A>G (p.Ile1959Val) c.5176A>G (p.Ile1726Val) c.5923A>G (p.Ile1975Val) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3729118T>G | CA394554951 | CREBBP | c.5929A>C (p.Ile1977Leu) c.5815A>C (p.Ile1939Leu) c.5884A>C (p.Ile1962Leu) c.5512A>C (p.Ile1838Leu) c.5668A>C (p.Ile1890Leu) c.5875A>C (p.Ile1959Leu) c.5176A>C (p.Ile1726Leu) c.5923A>C (p.Ile1975Leu) | |
| 16 | g.3729118T= | CA2202916236 | CREBBP | c.5929A= (p.Ile1977=) c.5815A= (p.Ile1939=) c.5884A= (p.Ile1962=) c.5512A= (p.Ile1838=) c.5668A= (p.Ile1890=) c.5875A= (p.Ile1959=) c.5176A= (p.Ile1726=) c.5923A= (p.Ile1975=) | |
| 16 | g.3729119G>A | CA493394316 | CREBBP | c.5928C>T (p.Asn1976=) c.5814C>T (p.Asn1938=) c.5883C>T (p.Asn1961=) c.5511C>T (p.Asn1837=) c.5667C>T (p.Asn1889=) c.5874C>T (p.Asn1958=) c.5175C>T (p.Asn1725=) c.5922C>T (p.Asn1974=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3729119G>C | CA394554953 | CREBBP | c.5928C>G (p.Asn1976Lys) c.5814C>G (p.Asn1938Lys) c.5883C>G (p.Asn1961Lys) c.5511C>G (p.Asn1837Lys) c.5667C>G (p.Asn1889Lys) c.5874C>G (p.Asn1958Lys) c.5175C>G (p.Asn1725Lys) c.5922C>G (p.Asn1974Lys) | |
| 16 | g.3729119G= | CA2202916237 | CREBBP | c.5928C= (p.Asn1976=) c.5814C= (p.Asn1938=) c.5883C= (p.Asn1961=) c.5511C= (p.Asn1837=) c.5667C= (p.Asn1889=) c.5874C= (p.Asn1958=) c.5175C= (p.Asn1725=) c.5922C= (p.Asn1974=) | |
| 16 | g.3729119G>T | CA394554955 | CREBBP | c.5928C>A (p.Asn1976Lys) c.5814C>A (p.Asn1938Lys) c.5883C>A (p.Asn1961Lys) c.5511C>A (p.Asn1837Lys) c.5667C>A (p.Asn1889Lys) c.5874C>A (p.Asn1958Lys) c.5175C>A (p.Asn1725Lys) c.5922C>A (p.Asn1974Lys) | gnomAD v4 |
| 16 | g.3729120T>A | CA394554958 | CREBBP | c.5927A>T (p.Asn1976Ile) c.5813A>T (p.Asn1938Ile) c.5882A>T (p.Asn1961Ile) c.5510A>T (p.Asn1837Ile) c.5666A>T (p.Asn1889Ile) c.5873A>T (p.Asn1958Ile) c.5174A>T (p.Asn1725Ile) c.5921A>T (p.Asn1974Ile) | dbSNP |
| 16 | g.3729120T>C | CA394554959 | CREBBP | c.5927A>G (p.Asn1976Ser) c.5813A>G (p.Asn1938Ser) c.5882A>G (p.Asn1961Ser) c.5510A>G (p.Asn1837Ser) c.5666A>G (p.Asn1889Ser) c.5873A>G (p.Asn1958Ser) c.5174A>G (p.Asn1725Ser) c.5921A>G (p.Asn1974Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3729120T>G | CA394554961 | CREBBP | c.5927A>C (p.Asn1976Thr) c.5813A>C (p.Asn1938Thr) c.5882A>C (p.Asn1961Thr) c.5510A>C (p.Asn1837Thr) c.5666A>C (p.Asn1889Thr) c.5873A>C (p.Asn1958Thr) c.5174A>C (p.Asn1725Thr) c.5921A>C (p.Asn1974Thr) | |
| 16 | g.3729120T= | CA2202916238 | CREBBP | c.5927A= (p.Asn1976=) c.5813A= (p.Asn1938=) c.5882A= (p.Asn1961=) c.5510A= (p.Asn1837=) c.5666A= (p.Asn1889=) c.5873A= (p.Asn1958=) c.5174A= (p.Asn1725=) c.5921A= (p.Asn1974=) | |
| 16 | g.3729121T>A | CA394554963 | CREBBP | c.5926A>T (p.Asn1976Tyr) c.5812A>T (p.Asn1938Tyr) c.5881A>T (p.Asn1961Tyr) c.5509A>T (p.Asn1837Tyr) c.5665A>T (p.Asn1889Tyr) c.5872A>T (p.Asn1958Tyr) c.5173A>T (p.Asn1725Tyr) c.5920A>T (p.Asn1974Tyr) | |
| 16 | g.3729121T>C | CA394554965 | CREBBP | c.5926A>G (p.Asn1976Asp) c.5812A>G (p.Asn1938Asp) c.5881A>G (p.Asn1961Asp) c.5509A>G (p.Asn1837Asp) c.5665A>G (p.Asn1889Asp) c.5872A>G (p.Asn1958Asp) c.5173A>G (p.Asn1725Asp) c.5920A>G (p.Asn1974Asp) | gnomAD v4 |
| 16 | g.3729121T>G | CA394554967 | CREBBP | c.5926A>C (p.Asn1976His) c.5812A>C (p.Asn1938His) c.5881A>C (p.Asn1961His) c.5509A>C (p.Asn1837His) c.5665A>C (p.Asn1889His) c.5872A>C (p.Asn1958His) c.5173A>C (p.Asn1725His) c.5920A>C (p.Asn1974His) | |
| 16 | g.3729122C>A | CA276971887 | CREBBP | c.5925G>T (p.Val1975=) c.5811G>T (p.Val1937=) c.5880G>T (p.Val1960=) c.5508G>T (p.Val1836=) c.5664G>T (p.Val1888=) c.5871G>T (p.Val1957=) c.5172G>T (p.Val1724=) c.5919G>T (p.Val1973=) | dbSNP gnomAD v4 |
| 16 | g.3729122C= | CA2202916239 | CREBBP | c.5925G= (p.Val1975=) c.5811G= (p.Val1937=) c.5880G= (p.Val1960=) c.5508G= (p.Val1836=) c.5664G= (p.Val1888=) c.5871G= (p.Val1957=) c.5172G= (p.Val1724=) c.5919G= (p.Val1973=) | |
| 16 | g.3729122C>G | CA493394321 | CREBBP | c.5925G>C (p.Val1975=) c.5811G>C (p.Val1937=) c.5880G>C (p.Val1960=) c.5508G>C (p.Val1836=) c.5664G>C (p.Val1888=) c.5871G>C (p.Val1957=) c.5172G>C (p.Val1724=) c.5919G>C (p.Val1973=) | dbSNP |
| 16 | g.3729122C>T | CA7869225 | CREBBP | c.5925G>A (p.Val1975=) c.5811G>A (p.Val1937=) c.5880G>A (p.Val1960=) c.5508G>A (p.Val1836=) c.5664G>A (p.Val1888=) c.5871G>A (p.Val1957=) c.5172G>A (p.Val1724=) c.5919G>A (p.Val1973=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3729123A>C | CA394554971 | CREBBP | c.5924T>G (p.Val1975Gly) c.5810T>G (p.Val1937Gly) c.5879T>G (p.Val1960Gly) c.5507T>G (p.Val1836Gly) c.5663T>G (p.Val1888Gly) c.5870T>G (p.Val1957Gly) c.5171T>G (p.Val1724Gly) c.5918T>G (p.Val1973Gly) | dbSNP gnomAD v4 |
| 16 | g.3729123A>G | CA394554973 | CREBBP | c.5924T>C (p.Val1975Ala) c.5810T>C (p.Val1937Ala) c.5879T>C (p.Val1960Ala) c.5507T>C (p.Val1836Ala) c.5663T>C (p.Val1888Ala) c.5870T>C (p.Val1957Ala) c.5171T>C (p.Val1724Ala) c.5918T>C (p.Val1973Ala) |