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 |
|---|---|---|---|---|---|
| 22 | g.41147864_41147870del | CA658793992 | EP300 | c.*79_*85del (n.*79_*85del) c.1949_1955del c.2159_2165del (p.Met720SerfsTer?) c.2081_2087del (p.Met694SerfsTer?) c.203_209del (p.Met68SerfsTer?) n.292_298del | |
| 22 | g.41147864T>A | CA411689979 | EP300 | c.*79T>A (n.*79T>A) c.1949T>A c.2159T>A (p.Met720Lys) c.2081T>A (p.Met694Lys) c.203T>A (p.Met68Lys) n.292T>A | |
| 22 | g.41147864T>C | CA411689980 | EP300 | c.*79T>C (n.*79T>C) c.1949T>C c.2159T>C (p.Met720Thr) c.2081T>C (p.Met694Thr) c.203T>C (p.Met68Thr) n.292T>C | gnomAD v4 |
| 22 | g.41147864T>G | CA411689982 | EP300 | c.*79T>G (n.*79T>G) c.1949T>G c.2159T>G (p.Met720Arg) c.2081T>G (p.Met694Arg) c.203T>G (p.Met68Arg) n.292T>G | dbSNP |
| 22 | g.41147864T= | CA2406101894 | EP300 | c.*79T= (n.*79T=) c.1949T= c.2159T= (p.Met720=) c.2081T= (p.Met694=) c.203T= (p.Met68=) n.292T= | |
| 22 | g.41147865G>A | CA411689983 | EP300 | c.*80G>A (n.*80G>A) c.1950G>A c.2160G>A (p.Met720Ile) c.2082G>A (p.Met694Ile) c.204G>A (p.Met68Ile) n.293G>A | dbSNP |
| 22 | g.41147865G>C | CA411689985 | EP300 | c.*80G>C (n.*80G>C) c.1950G>C c.2160G>C (p.Met720Ile) c.2082G>C (p.Met694Ile) c.204G>C (p.Met68Ile) n.293G>C | dbSNP |
| 22 | g.41147865G>T | CA411689987 | EP300 | c.*80G>T (n.*80G>T) c.1950G>T c.2160G>T (p.Met720Ile) c.2082G>T (p.Met694Ile) c.204G>T (p.Met68Ile) n.293G>T | |
| 22 | g.41147866dup | CA16043636 | EP300 | c.*81dup (n.*81dup) c.1951dup c.2161dup (p.Ala721GlyfsTer?) c.2083dup (p.Ala695GlyfsTer?) c.205dup (p.Ala69GlyfsTer?) n.294dup | ClinVar dbSNP |
| 22 | g.41147866G>A | CA411689991 | EP300 | c.*81G>A (n.*81G>A) c.1951G>A c.2161G>A (p.Ala721Thr) c.2083G>A (p.Ala695Thr) c.205G>A (p.Ala69Thr) n.294G>A | gnomAD v4 |
| 22 | g.41147866G>C | CA411689990 | EP300 | c.*81G>C (n.*81G>C) c.1951G>C c.2161G>C (p.Ala721Pro) c.2083G>C (p.Ala695Pro) c.205G>C (p.Ala69Pro) n.294G>C | |
| 22 | g.41147866G= | CA2406101895 | EP300 | c.*81G= (n.*81G=) c.1951G= c.2161G= (p.Ala721=) c.2083G= (p.Ala695=) c.205G= (p.Ala69=) n.294G= | |
| 22 | g.41147866G>T | CA411689989 | EP300 | c.*81G>T (n.*81G>T) c.1951G>T c.2161G>T (p.Ala721Ser) c.2083G>T (p.Ala695Ser) c.205G>T (p.Ala69Ser) n.294G>T | |
| 22 | g.41147867C>A | CA411689992 | EP300 | c.*82C>A (n.*82C>A) c.1952C>A c.2162C>A (p.Ala721Asp) c.2084C>A (p.Ala695Asp) c.206C>A (p.Ala69Asp) n.295C>A | dbSNP |
| 22 | g.41147867C>G | CA411689993 | EP300 | c.*82C>G (n.*82C>G) c.1952C>G c.2162C>G (p.Ala721Gly) c.2084C>G (p.Ala695Gly) c.206C>G (p.Ala69Gly) n.295C>G | dbSNP |
| 22 | g.41147867C>T | CA411689994 | EP300 | c.*82C>T (n.*82C>T) c.1952C>T c.2162C>T (p.Ala721Val) c.2084C>T (p.Ala695Val) c.206C>T (p.Ala69Val) n.295C>T | dbSNP |
| 22 | g.41147869dup | CA10584654 | EP300 | c.*84dup (n.*84dup) c.1954dup c.2164dup (p.Gln722ProfsTer?) c.2086dup (p.Gln696ProfsTer?) c.208dup (p.Gln70ProfsTer?) n.297dup | ClinVar dbSNP |
| 22 | g.41147868C>A | CA514640180 | EP300 | c.*83C>A (n.*83C>A) c.1953C>A c.2163C>A (p.Ala721=) c.2085C>A (p.Ala695=) c.207C>A (p.Ala69=) n.296C>A | dbSNP gnomAD v4 |
| 22 | g.41147868C>G | CA514640178 | EP300 | c.*83C>G (n.*83C>G) c.1953C>G c.2163C>G (p.Ala721=) c.2085C>G (p.Ala695=) c.207C>G (p.Ala69=) n.296C>G | dbSNP gnomAD v4 |
| 22 | g.41147868C>T | CA514640176 | EP300 | c.*83C>T (n.*83C>T) c.1953C>T c.2163C>T (p.Ala721=) c.2085C>T (p.Ala695=) c.207C>T (p.Ala69=) n.296C>T | dbSNP |
| 22 | g.41147869C>A | CA411689996 | EP300 | c.*84C>A (n.*84C>A) c.1954C>A c.2164C>A (p.Gln722Lys) c.2086C>A (p.Gln696Lys) c.208C>A (p.Gln70Lys) n.297C>A | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.41147869C= | CA2406101896 | EP300 | c.*84C= (n.*84C=) c.1954C= c.2164C= (p.Gln722=) c.2086C= (p.Gln696=) c.208C= (p.Gln70=) n.297C= | |
| 22 | g.41147869C>G | CA411689997 | EP300 | c.*84C>G (n.*84C>G) c.1954C>G c.2164C>G (p.Gln722Glu) c.2086C>G (p.Gln696Glu) c.208C>G (p.Gln70Glu) n.297C>G | |
| 22 | g.41147869C>T | CA411689999 | EP300 | c.*84C>T (n.*84C>T) c.1954C>T c.2164C>T (p.Gln722Ter) c.2086C>T (p.Gln696Ter) c.208C>T (p.Gln70Ter) n.297C>T | dbSNP |
| 22 | g.41147870A= | CA2406101897 | EP300 | c.*85A= (n.*85A=) c.1955A= c.2165A= (p.Gln722=) c.2087A= (p.Gln696=) c.209A= (p.Gln70=) n.298A= | |
| 22 | g.41147870A>C | CA411690003 | EP300 | c.*85A>C (n.*85A>C) c.1955A>C c.2165A>C (p.Gln722Pro) c.2087A>C (p.Gln696Pro) c.209A>C (p.Gln70Pro) n.298A>C | dbSNP |
| 22 | g.41147870A>G | CA10252767 | EP300 | c.*85A>G (n.*85A>G) c.1955A>G c.2165A>G (p.Gln722Arg) c.2087A>G (p.Gln696Arg) c.209A>G (p.Gln70Arg) n.298A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41147870A>T | CA411690001 | EP300 | c.*85A>T (n.*85A>T) c.1955A>T c.2165A>T (p.Gln722Leu) c.2087A>T (p.Gln696Leu) c.209A>T (p.Gln70Leu) n.298A>T | dbSNP gnomAD v4 |
| 22 | g.41147871G>A | CA514640192 | EP300 | c.*86G>A (n.*86G>A) c.1956G>A c.2166G>A (p.Gln722=) c.2088G>A (p.Gln696=) c.210G>A (p.Gln70=) n.299G>A | dbSNP |
| 22 | g.41147871G>C | CA411690004 | EP300 | c.*86G>C (n.*86G>C) c.1956G>C c.2166G>C (p.Gln722His) c.2088G>C (p.Gln696His) c.210G>C (p.Gln70His) n.299G>C | |
| 22 | g.41147871G>T | CA411690005 | EP300 | c.*86G>T (n.*86G>T) c.1956G>T c.2166G>T (p.Gln722His) c.2088G>T (p.Gln696His) c.210G>T (p.Gln70His) n.299G>T | |
| 22 | g.41147872C>A | CA411690007 | EP300 | c.*87C>A (n.*87C>A) c.1957C>A c.2167C>A (p.Pro723Thr) c.2089C>A (p.Pro697Thr) c.211C>A (p.Pro71Thr) n.300C>A | ClinVar dbSNP |
| 22 | g.41147872C= | CA2406101898 | EP300 | c.*87C= (n.*87C=) c.1957C= c.2167C= (p.Pro723=) c.2089C= (p.Pro697=) c.211C= (p.Pro71=) n.300C= | |
| 22 | g.41147872C>G | CA411690009 | EP300 | c.*87C>G (n.*87C>G) c.1957C>G c.2167C>G (p.Pro723Ala) c.2089C>G (p.Pro697Ala) c.211C>G (p.Pro71Ala) n.300C>G | dbSNP |
| 22 | g.41147872C>T | CA10252768 | EP300 | c.*87C>T (n.*87C>T) c.1957C>T c.2167C>T (p.Pro723Ser) c.2089C>T (p.Pro697Ser) c.211C>T (p.Pro71Ser) n.300C>T | dbSNP ExAC gnomAD v4 |
| 22 | g.41147876dup | CA2819027613 | EP300 | c.*91dup (n.*91dup) c.1961dup c.2171dup (p.Ile725TyrfsTer?) c.2093dup (p.Ile699TyrfsTer?) c.215dup (p.Ile73TyrfsTer?) n.304dup | |
| 22 | g.41147873C>A | CA411690011 | EP300 | c.*88C>A (n.*88C>A) c.1958C>A c.2168C>A (p.Pro723His) c.2090C>A (p.Pro697His) c.212C>A (p.Pro71His) n.301C>A | dbSNP |
| 22 | g.41147873C>G | CA411690013 | EP300 | c.*88C>G (n.*88C>G) c.1958C>G c.2168C>G (p.Pro723Arg) c.2090C>G (p.Pro697Arg) c.212C>G (p.Pro71Arg) n.301C>G | dbSNP |
| 22 | g.41147873C>T | CA411690012 | EP300 | c.*88C>T (n.*88C>T) c.1958C>T c.2168C>T (p.Pro723Leu) c.2090C>T (p.Pro697Leu) c.212C>T (p.Pro71Leu) n.301C>T | dbSNP |
| 22 | g.41147874C>A | CA514640218 | EP300 | c.*89C>A (n.*89C>A) c.1959C>A c.2169C>A (p.Pro723=) c.2091C>A (p.Pro697=) c.213C>A (p.Pro71=) n.302C>A | dbSNP |
| 22 | g.41147874C= | CA2406101899 | EP300 | c.*89C= (n.*89C=) c.1959C= c.2169C= (p.Pro723=) c.2091C= (p.Pro697=) c.213C= (p.Pro71=) n.302C= | |
| 22 | g.41147874C>G | CA324534712 | EP300 | c.*89C>G (n.*89C>G) c.1959C>G c.2169C>G (p.Pro723=) c.2091C>G (p.Pro697=) c.213C>G (p.Pro71=) n.302C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41147874C>T | CA514640215 | EP300 | c.*89C>T (n.*89C>T) c.1959C>T c.2169C>T (p.Pro723=) c.2091C>T (p.Pro697=) c.213C>T (p.Pro71=) n.302C>T | dbSNP |
| 22 | g.41147875C>A | CA411690015 | EP300 | c.*90C>A (n.*90C>A) c.1960C>A c.2170C>A (p.Pro724Thr) c.2092C>A (p.Pro698Thr) c.214C>A (p.Pro72Thr) n.303C>A | |
| 22 | g.41147875C= | CA2406101900 | EP300 | c.*90C= (n.*90C=) c.1960C= c.2170C= (p.Pro724=) c.2092C= (p.Pro698=) c.214C= (p.Pro72=) n.303C= | |
| 22 | g.41147875C>G | CA10252769 | EP300 | c.*90C>G (n.*90C>G) c.1960C>G c.2170C>G (p.Pro724Ala) c.2092C>G (p.Pro698Ala) c.214C>G (p.Pro72Ala) n.303C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.41147875C>T | CA411690017 | EP300 | c.*90C>T (n.*90C>T) c.1960C>T c.2170C>T (p.Pro724Ser) c.2092C>T (p.Pro698Ser) c.214C>T (p.Pro72Ser) n.303C>T | dbSNP |
| 22 | g.41147876C>A | CA411690019 | EP300 | c.*91C>A (n.*91C>A) c.1961C>A c.2171C>A (p.Pro724His) c.2093C>A (p.Pro698His) c.215C>A (p.Pro72His) n.304C>A | dbSNP |
| 22 | g.41147876C= | CA2406101901 | EP300 | c.*91C= (n.*91C=) c.1961C= c.2171C= (p.Pro724=) c.2093C= (p.Pro698=) c.215C= (p.Pro72=) n.304C= | |
| 22 | g.41147876C>G | CA324534716 | EP300 | c.*91C>G (n.*91C>G) c.1961C>G c.2171C>G (p.Pro724Arg) c.2093C>G (p.Pro698Arg) c.215C>G (p.Pro72Arg) n.304C>G | dbSNP gnomAD v4 |