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 |
|---|---|---|---|---|---|
| 11 | g.46723453C>A | CA380263172 | F2 | c.494C>A (p.Thr165Lys) c.464C>A (p.Thr155Lys) n.274C>A c.446C>A (p.Thr149Lys) n.538C>A n.529C>A | |
| 11 | g.46723453C= | CA1969070258 | F2 | c.494C= (p.Thr165=) c.464C= (p.Thr155=) n.274C= c.446C= (p.Thr149=) n.538C= n.529C= | |
| 11 | g.46723453C>G | CA380263171 | F2 | c.494C>G (p.Thr165Arg) c.464C>G (p.Thr155Arg) n.274C>G c.446C>G (p.Thr149Arg) n.538C>G n.529C>G | dbSNP |
| 11 | g.46723453C>T | CA5966962 | F2 | c.494C>T (p.Thr165Met) c.464C>T (p.Thr155Met) n.274C>T c.446C>T (p.Thr149Met) n.538C>T n.529C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46723454G>A | CA5966963 | F2 | c.495G>A (p.Thr165=) c.465G>A (p.Thr155=) n.275G>A c.447G>A (p.Thr149=) n.539G>A n.530G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46723454G>C | CA473871025 | F2 | c.495G>C (p.Thr165=) c.465G>C (p.Thr155=) n.275G>C c.447G>C (p.Thr149=) n.539G>C n.530G>C | |
| 11 | g.46723454G= | CA1969070266 | F2 | c.495G= (p.Thr165=) c.465G= (p.Thr155=) n.275G= c.447G= (p.Thr149=) n.539G= n.530G= | |
| 11 | g.46723454G>T | CA473871023 | F2 | c.495G>T (p.Thr165=) c.465G>T (p.Thr155=) n.275G>T c.447G>T (p.Thr149=) n.539G>T n.530G>T | COSMIC |
| 11 | g.46723455G>A | CA380263173 | F2 | c.496G>A (p.Gly166Arg) c.466G>A (p.Gly156Arg) n.276G>A c.448G>A (p.Gly150Arg) n.540G>A n.531G>A | COSMIC |
| 11 | g.46723455G>C | CA380263174 | F2 | c.496G>C (p.Gly166Arg) c.466G>C (p.Gly156Arg) n.276G>C c.448G>C (p.Gly150Arg) n.540G>C n.531G>C | |
| 11 | g.46723455G>T | CA380263175 | F2 | c.496G>T (p.Gly166Ter) c.466G>T (p.Gly156Ter) n.276G>T c.448G>T (p.Gly150Ter) n.540G>T n.531G>T | |
| 11 | g.46723456G>A | CA380263177 | F2 | c.497G>A (p.Gly166Glu) c.467G>A (p.Gly156Glu) n.277G>A c.449G>A (p.Gly150Glu) n.541G>A n.532G>A | |
| 11 | g.46723456G>C | CA380263178 | F2 | c.497G>C (p.Gly166Ala) c.467G>C (p.Gly156Ala) n.277G>C c.449G>C (p.Gly150Ala) n.541G>C n.532G>C | |
| 11 | g.46723456G>T | CA380263180 | F2 | c.497G>T (p.Gly166Val) c.467G>T (p.Gly156Val) n.277G>T c.449G>T (p.Gly150Val) n.541G>T n.532G>T | |
| 11 | g.46723457A>C | CA473871026 | F2 | c.498A>C (p.Gly166=) c.468A>C (p.Gly156=) n.278A>C c.450A>C (p.Gly150=) n.542A>C n.533A>C | |
| 11 | g.46723457A>G | CA473871027 | F2 | c.498A>G (p.Gly166=) c.468A>G (p.Gly156=) n.278A>G c.450A>G (p.Gly150=) n.542A>G n.533A>G | |
| 11 | g.46723457A>T | CA473871028 | F2 | c.498A>T (p.Gly166=) c.468A>T (p.Gly156=) n.278A>T c.450A>T (p.Gly150=) n.542A>T n.533A>T | |
| 11 | g.46723458C>A | CA380263183 | F2 | c.499C>A (p.Pro167Thr) c.469C>A (p.Pro157Thr) n.279C>A c.451C>A (p.Pro151Thr) n.543C>A n.534C>A | |
| 11 | g.46723458C= | CA1969070268 | F2 | c.499C= (p.Pro167=) c.469C= (p.Pro157=) n.279C= c.451C= (p.Pro151=) n.543C= n.534C= | |
| 11 | g.46723458C>G | CA380263184 | F2 | c.499C>G (p.Pro167Ala) c.469C>G (p.Pro157Ala) n.279C>G c.451C>G (p.Pro151Ala) n.543C>G n.534C>G | |
| 11 | g.46723458C>T | CA5966964 | F2 | c.499C>T (p.Pro167Ser) c.469C>T (p.Pro157Ser) n.279C>T c.451C>T (p.Pro151Ser) n.543C>T n.534C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.46723459C>A | CA380263189 | F2 | c.500C>A (p.Pro167His) c.470C>A (p.Pro157His) n.280C>A c.452C>A (p.Pro151His) n.544C>A n.535C>A | COSMIC |
| 11 | g.46723459C>G | CA380263191 | F2 | c.500C>G (p.Pro167Arg) c.470C>G (p.Pro157Arg) n.280C>G c.452C>G (p.Pro151Arg) n.544C>G n.535C>G | |
| 11 | g.46723459C>T | CA380263193 | F2 | c.500C>T (p.Pro167Leu) c.470C>T (p.Pro157Leu) n.280C>T c.452C>T (p.Pro151Leu) n.544C>T n.535C>T | ClinVar |
| 11 | g.46723460C>A | CA473871029 | F2 | c.501C>A (p.Pro167=) c.471C>A (p.Pro157=) n.281C>A c.453C>A (p.Pro151=) n.545C>A n.536C>A | |
| 11 | g.46723460C= | CA1969070269 | F2 | c.501C= (p.Pro167=) c.471C= (p.Pro157=) n.281C= c.453C= (p.Pro151=) n.545C= n.536C= | |
| 11 | g.46723460C>G | CA5966966 | F2 | c.501C>G (p.Pro167=) c.471C>G (p.Pro157=) n.281C>G c.453C>G (p.Pro151=) n.545C>G n.536C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46723460C>T | CA5966965 | F2 | c.501C>T (p.Pro167=) c.471C>T (p.Pro157=) n.281C>T c.453C>T (p.Pro151=) n.545C>T n.536C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.46723461T>A | CA380263194 | F2 | c.502T>A (p.Trp168Arg) c.472T>A (p.Trp158Arg) n.282T>A c.454T>A (p.Trp152Arg) n.546T>A n.537T>A | |
| 11 | g.46723461T>C | CA380263196 | F2 | c.502T>C (p.Trp168Arg) c.472T>C (p.Trp158Arg) n.282T>C c.454T>C (p.Trp152Arg) n.546T>C n.537T>C | |
| 11 | g.46723461T>G | CA380263195 | F2 | c.502T>G (p.Trp168Gly) c.472T>G (p.Trp158Gly) n.282T>G c.454T>G (p.Trp152Gly) n.546T>G n.537T>G | |
| 11 | g.46723462G>A | CA380263197 | F2 | c.503G>A (p.Trp168Ter) c.473G>A (p.Trp158Ter) n.283G>A c.455G>A (p.Trp152Ter) n.547G>A n.538G>A | gnomAD v4 |
| 11 | g.46723462G>C | CA380263198 | F2 | c.503G>C (p.Trp168Ser) c.473G>C (p.Trp158Ser) n.283G>C c.455G>C (p.Trp152Ser) n.547G>C n.538G>C | |
| 11 | g.46723462G>T | CA380263199 | F2 | c.503G>T (p.Trp168Leu) c.473G>T (p.Trp158Leu) n.283G>T c.455G>T (p.Trp152Leu) n.547G>T n.538G>T | |
| 11 | g.46723463G>A | CA380263200 | F2 | c.504G>A (p.Trp168Ter) c.474G>A (p.Trp158Ter) n.284G>A c.456G>A (p.Trp152Ter) n.548G>A n.539G>A | |
| 11 | g.46723463G>C | CA380263201 | F2 | c.504G>C (p.Trp168Cys) c.474G>C (p.Trp158Cys) n.284G>C c.456G>C (p.Trp152Cys) n.548G>C n.539G>C | |
| 11 | g.46723463G= | CA1969070270 | F2 | c.504G= (p.Trp168=) c.474G= (p.Trp158=) n.284G= c.456G= (p.Trp152=) n.548G= n.539G= | |
| 11 | g.46723463G>T | CA380263203 | F2 | c.504G>T (p.Trp168Cys) c.474G>T (p.Trp158Cys) n.284G>T c.456G>T (p.Trp152Cys) n.548G>T n.539G>T | |
| 11 | g.46723463_46723464insCACCTGGCCT | CA599045303 | F2 | c.504_505insCACCTGGCCT (p.Cys169HisfsTer?) c.474_475insCACCTGGCCT (p.Cys159HisfsTer?) n.284_285insCACCTGGCCT c.456_457insCACCTGGCCT (p.Cys153HisfsTer?) n.548_549insCACCTGGCCT n.539_540insCACCTGGCCT | dbSNP gnomAD v2 |
| 11 | g.46723464T>A | CA380263205 | F2 | c.505T>A (p.Cys169Ser) c.475T>A (p.Cys159Ser) n.285T>A c.457T>A (p.Cys153Ser) n.549T>A n.540T>A | |
| 11 | g.46723464T>C | CA380263206 | F2 | c.505T>C (p.Cys169Arg) c.475T>C (p.Cys159Arg) n.285T>C c.457T>C (p.Cys153Arg) n.549T>C n.540T>C | |
| 11 | g.46723464T>G | CA380263208 | F2 | c.505T>G (p.Cys169Gly) c.475T>G (p.Cys159Gly) n.285T>G c.457T>G (p.Cys153Gly) n.549T>G n.540T>G | |
| 11 | g.46723465G>A | CA380263211 | F2 | c.506G>A (p.Cys169Tyr) c.476G>A (p.Cys159Tyr) n.286G>A c.458G>A (p.Cys153Tyr) n.550G>A n.541G>A | |
| 11 | g.46723465G>C | CA380263212 | F2 | c.506G>C (p.Cys169Ser) c.476G>C (p.Cys159Ser) n.286G>C c.458G>C (p.Cys153Ser) n.550G>C n.541G>C | |
| 11 | g.46723465G>T | CA380263214 | F2 | c.506G>T (p.Cys169Phe) c.476G>T (p.Cys159Phe) n.286G>T c.458G>T (p.Cys153Phe) n.550G>T n.541G>T | COSMIC |
| 11 | g.46723466C>A | CA380263217 | F2 | c.507C>A (p.Cys169Ter) c.477C>A (p.Cys159Ter) n.287C>A c.459C>A (p.Cys153Ter) n.551C>A n.542C>A | |
| 11 | g.46723466C>G | CA380263218 | F2 | c.507C>G (p.Cys169Trp) c.477C>G (p.Cys159Trp) n.287C>G c.459C>G (p.Cys153Trp) n.551C>G n.542C>G | |
| 11 | g.46723466C>T | CA473871033 | F2 | c.507C>T (p.Cys169=) c.477C>T (p.Cys159=) n.287C>T c.459C>T (p.Cys153=) n.551C>T n.542C>T | |
| 11 | g.46723467T>A | CA380263220 | F2 | c.508T>A (p.Tyr170Asn) c.478T>A (p.Tyr160Asn) n.288T>A c.460T>A (p.Tyr154Asn) n.552T>A n.543T>A | |
| 11 | g.46723467T>C | CA380263222 | F2 | c.508T>C (p.Tyr170His) c.478T>C (p.Tyr160His) n.288T>C c.460T>C (p.Tyr154His) n.552T>C n.543T>C |