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 |
|---|---|---|---|---|---|
| 15 | g.74896227T>A | CA7662534 | MPI | c.746T>A (p.Ile249Asn) c.563T>A (p.Ile188Asn) c.596T>A (p.Ile199Asn) c.686T>A (p.Ile229Asn) c.256-1312T>A (n.256-1312T>A) c.413T>A (p.Ile138Asn) n.794T>A c.524T>A (p.Ile175Asn) c.734T>A (p.Ile245Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74896227T>C | CA393175921 | MPI | c.746T>C (p.Ile249Thr) c.563T>C (p.Ile188Thr) c.596T>C (p.Ile199Thr) c.686T>C (p.Ile229Thr) c.256-1312T>C (n.256-1312T>C) c.413T>C (p.Ile138Thr) n.794T>C c.524T>C (p.Ile175Thr) c.734T>C (p.Ile245Thr) | ClinVar dbSNP gnomAD v4 |
| 15 | g.74896227T>G | CA393175922 | MPI | c.746T>G (p.Ile249Ser) c.563T>G (p.Ile188Ser) c.596T>G (p.Ile199Ser) c.686T>G (p.Ile229Ser) c.256-1312T>G (n.256-1312T>G) c.413T>G (p.Ile138Ser) n.794T>G c.524T>G (p.Ile175Ser) c.734T>G (p.Ile245Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74896227T= | CA2187901818 | MPI | c.746T= (p.Ile249=) c.563T= (p.Ile188=) c.596T= (p.Ile199=) c.686T= (p.Ile229=) c.256-1312T= (n.256-1312T=) c.413T= (p.Ile138=) n.794T= c.524T= (p.Ile175=) c.734T= (p.Ile245=) | |
| 15 | g.74896228C>A | CA491491401 | MPI | c.747C>A (p.Ile249=) c.564C>A (p.Ile188=) c.597C>A (p.Ile199=) c.687C>A (p.Ile229=) c.256-1311C>A (n.256-1311C>A) c.414C>A (p.Ile138=) n.795C>A c.525C>A (p.Ile175=) c.735C>A (p.Ile245=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74896228C= | CA2187901822 | MPI | c.747C= (p.Ile249=) c.564C= (p.Ile188=) c.597C= (p.Ile199=) c.687C= (p.Ile229=) c.256-1311C= (n.256-1311C=) c.414C= (p.Ile138=) n.795C= c.525C= (p.Ile175=) c.735C= (p.Ile245=) | |
| 15 | g.74896228C>G | CA393175923 | MPI | c.747C>G (p.Ile249Met) c.564C>G (p.Ile188Met) c.597C>G (p.Ile199Met) c.687C>G (p.Ile229Met) c.256-1311C>G (n.256-1311C>G) c.414C>G (p.Ile138Met) n.795C>G c.525C>G (p.Ile175Met) c.735C>G (p.Ile245Met) | |
| 15 | g.74896228C>T | CA7662535 | MPI | c.747C>T (p.Ile249=) c.564C>T (p.Ile188=) c.597C>T (p.Ile199=) c.687C>T (p.Ile229=) c.256-1311C>T (n.256-1311C>T) c.414C>T (p.Ile138=) n.795C>T c.525C>T (p.Ile175=) c.735C>T (p.Ile245=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74896229G>A | CA7662536 | MPI | c.748G>A (p.Gly250Ser) c.565G>A (p.Gly189Ser) c.598G>A (p.Gly200Ser) c.688G>A (p.Gly230Ser) c.256-1310G>A (n.256-1310G>A) c.415G>A (p.Gly139Ser) n.796G>A c.526G>A (p.Gly176Ser) c.736G>A (p.Gly246Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74896229G>C | CA393175924 | MPI | c.748G>C (p.Gly250Arg) c.565G>C (p.Gly189Arg) c.598G>C (p.Gly200Arg) c.688G>C (p.Gly230Arg) c.256-1310G>C (n.256-1310G>C) c.415G>C (p.Gly139Arg) n.796G>C c.526G>C (p.Gly176Arg) c.736G>C (p.Gly246Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74896229G= | CA2187901825 | MPI | c.748G= (p.Gly250=) c.565G= (p.Gly189=) c.598G= (p.Gly200=) c.688G= (p.Gly230=) c.256-1310G= (n.256-1310G=) c.415G= (p.Gly139=) n.796G= c.526G= (p.Gly176=) c.736G= (p.Gly246=) | |
| 15 | g.74896229G>T | CA393175925 | MPI | c.748G>T (p.Gly250Cys) c.565G>T (p.Gly189Cys) c.598G>T (p.Gly200Cys) c.688G>T (p.Gly230Cys) c.256-1310G>T (n.256-1310G>T) c.415G>T (p.Gly139Cys) n.796G>T c.526G>T (p.Gly176Cys) c.736G>T (p.Gly246Cys) | |
| 15 | g.74896230G>A | CA393175927 | MPI | c.749G>A (p.Gly250Asp) c.566G>A (p.Gly189Asp) c.599G>A (p.Gly200Asp) c.689G>A (p.Gly230Asp) c.256-1309G>A (n.256-1309G>A) c.416G>A (p.Gly139Asp) n.797G>A c.527G>A (p.Gly176Asp) c.737G>A (p.Gly246Asp) | dbSNP |
| 15 | g.74896230G>C | CA393175928 | MPI | c.749G>C (p.Gly250Ala) c.566G>C (p.Gly189Ala) c.599G>C (p.Gly200Ala) c.689G>C (p.Gly230Ala) c.256-1309G>C (n.256-1309G>C) c.416G>C (p.Gly139Ala) n.797G>C c.527G>C (p.Gly176Ala) c.737G>C (p.Gly246Ala) | |
| 15 | g.74896230G= | CA2187901829 | MPI | c.749G= (p.Gly250=) c.566G= (p.Gly189=) c.599G= (p.Gly200=) c.689G= (p.Gly230=) c.256-1309G= (n.256-1309G=) c.416G= (p.Gly139=) n.797G= c.527G= (p.Gly176=) c.737G= (p.Gly246=) | |
| 15 | g.74896230G>T | CA393175926 | MPI | c.749G>T (p.Gly250Val) c.566G>T (p.Gly189Val) c.599G>T (p.Gly200Val) c.689G>T (p.Gly230Val) c.256-1309G>T (n.256-1309G>T) c.416G>T (p.Gly139Val) n.797G>T c.527G>T (p.Gly176Val) c.737G>T (p.Gly246Val) | |
| 15 | g.74896231C>A | CA491491402 | MPI | c.750C>A (p.Gly250=) c.567C>A (p.Gly189=) c.600C>A (p.Gly200=) c.690C>A (p.Gly230=) c.256-1308C>A (n.256-1308C>A) c.417C>A (p.Gly139=) n.798C>A c.528C>A (p.Gly176=) c.738C>A (p.Gly246=) | |
| 15 | g.74896231C= | CA2187901832 | MPI | c.750C= (p.Gly250=) c.567C= (p.Gly189=) c.600C= (p.Gly200=) c.690C= (p.Gly230=) c.256-1308C= (n.256-1308C=) c.417C= (p.Gly139=) n.798C= c.528C= (p.Gly176=) c.738C= (p.Gly246=) | |
| 15 | g.74896231C>G | CA491491404 | MPI | c.750C>G (p.Gly250=) c.567C>G (p.Gly189=) c.600C>G (p.Gly200=) c.690C>G (p.Gly230=) c.256-1308C>G (n.256-1308C>G) c.417C>G (p.Gly139=) n.798C>G c.528C>G (p.Gly176=) c.738C>G (p.Gly246=) | |
| 15 | g.74896231C>T | CA491491403 | MPI | c.750C>T (p.Gly250=) c.567C>T (p.Gly189=) c.600C>T (p.Gly200=) c.690C>T (p.Gly230=) c.256-1308C>T (n.256-1308C>T) c.417C>T (p.Gly139=) n.798C>T c.528C>T (p.Gly176=) c.738C>T (p.Gly246=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74896232del | CA2739269589 | MPI | c.751del (p.Cys251AlafsTer7) c.568del (p.Cys190AlafsTer7) c.601del (p.Cys201AlafsTer7) c.691del (p.Cys231AlafsTer7) c.256-1307del (n.256-1307del) c.418del (p.Cys140AlafsTer7) n.799del c.529del (p.Cys177AlafsTer7) c.739del (p.Cys247AlafsTer7) | ClinVar |
| 15 | g.74896232T>A | CA393175929 | MPI | c.751T>A (p.Cys251Ser) c.568T>A (p.Cys190Ser) c.601T>A (p.Cys201Ser) c.691T>A (p.Cys231Ser) c.256-1307T>A (n.256-1307T>A) c.418T>A (p.Cys140Ser) n.799T>A c.529T>A (p.Cys177Ser) c.739T>A (p.Cys247Ser) | |
| 15 | g.74896232T>C | CA393175930 | MPI | c.751T>C (p.Cys251Arg) c.568T>C (p.Cys190Arg) c.601T>C (p.Cys201Arg) c.691T>C (p.Cys231Arg) c.256-1307T>C (n.256-1307T>C) c.418T>C (p.Cys140Arg) n.799T>C c.529T>C (p.Cys177Arg) c.739T>C (p.Cys247Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74896232T>G | CA393175931 | MPI | c.751T>G (p.Cys251Gly) c.568T>G (p.Cys190Gly) c.601T>G (p.Cys201Gly) c.691T>G (p.Cys231Gly) c.256-1307T>G (n.256-1307T>G) c.418T>G (p.Cys140Gly) n.799T>G c.529T>G (p.Cys177Gly) c.739T>G (p.Cys247Gly) | |
| 15 | g.74896232T= | CA2187901834 | MPI | c.751T= (p.Cys251=) c.568T= (p.Cys190=) c.601T= (p.Cys201=) c.691T= (p.Cys231=) c.256-1307T= (n.256-1307T=) c.418T= (p.Cys140=) n.799T= c.529T= (p.Cys177=) c.739T= (p.Cys247=) | |
| 15 | g.74896233G>A | CA393175932 | MPI | c.752G>A (p.Cys251Tyr) c.569G>A (p.Cys190Tyr) c.602G>A (p.Cys201Tyr) c.692G>A (p.Cys231Tyr) c.256-1306G>A (n.256-1306G>A) c.419G>A (p.Cys140Tyr) n.800G>A c.530G>A (p.Cys177Tyr) c.740G>A (p.Cys247Tyr) | COSMIC |
| 15 | g.74896233G>C | CA393175933 | MPI | c.752G>C (p.Cys251Ser) c.569G>C (p.Cys190Ser) c.602G>C (p.Cys201Ser) c.692G>C (p.Cys231Ser) c.256-1306G>C (n.256-1306G>C) c.419G>C (p.Cys140Ser) n.800G>C c.530G>C (p.Cys177Ser) c.740G>C (p.Cys247Ser) | |
| 15 | g.74896233G>T | CA393175934 | MPI | c.752G>T (p.Cys251Phe) c.569G>T (p.Cys190Phe) c.602G>T (p.Cys201Phe) c.692G>T (p.Cys231Phe) c.256-1306G>T (n.256-1306G>T) c.419G>T (p.Cys140Phe) n.800G>T c.530G>T (p.Cys177Phe) c.740G>T (p.Cys247Phe) | |
| 15 | g.74896234del | CA2573151157 | MPI | c.753del (p.Phe252LeufsTer6) c.570del (p.Phe191LeufsTer6) c.603del (p.Phe202LeufsTer6) c.693del (p.Phe232LeufsTer6) c.256-1305del (n.256-1305del) c.420del (p.Phe141LeufsTer6) n.801del c.531del (p.Phe178LeufsTer6) c.741del (p.Phe248LeufsTer6) | ClinVar dbSNP |
| 15 | g.74896234C>A | CA393175935 | MPI | c.753C>A (p.Cys251Ter) c.570C>A (p.Cys190Ter) c.603C>A (p.Cys201Ter) c.693C>A (p.Cys231Ter) c.256-1305C>A (n.256-1305C>A) c.420C>A (p.Cys140Ter) n.801C>A c.531C>A (p.Cys177Ter) c.741C>A (p.Cys247Ter) | |
| 15 | g.74896234C= | CA2187901837 | MPI | c.753C= (p.Cys251=) c.570C= (p.Cys190=) c.603C= (p.Cys201=) c.693C= (p.Cys231=) c.256-1305C= (n.256-1305C=) c.420C= (p.Cys140=) n.801C= c.531C= (p.Cys177=) c.741C= (p.Cys247=) | |
| 15 | g.74896234C>G | CA7662537 | MPI | c.753C>G (p.Cys251Trp) c.570C>G (p.Cys190Trp) c.603C>G (p.Cys201Trp) c.693C>G (p.Cys231Trp) c.256-1305C>G (n.256-1305C>G) c.420C>G (p.Cys140Trp) n.801C>G c.531C>G (p.Cys177Trp) c.741C>G (p.Cys247Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74896234C>T | CA491491405 | MPI | c.753C>T (p.Cys251=) c.570C>T (p.Cys190=) c.603C>T (p.Cys201=) c.693C>T (p.Cys231=) c.256-1305C>T (n.256-1305C>T) c.420C>T (p.Cys140=) n.801C>T c.531C>T (p.Cys177=) c.741C>T (p.Cys247=) | |
| 15 | g.74896235T>A | CA7662539 | MPI | c.754T>A (p.Phe252Ile) c.571T>A (p.Phe191Ile) c.604T>A (p.Phe202Ile) c.694T>A (p.Phe232Ile) c.256-1304T>A (n.256-1304T>A) c.421T>A (p.Phe141Ile) n.802T>A c.532T>A (p.Phe178Ile) c.742T>A (p.Phe248Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74896235T>C | CA393175936 | MPI | c.754T>C (p.Phe252Leu) c.571T>C (p.Phe191Leu) c.604T>C (p.Phe202Leu) c.694T>C (p.Phe232Leu) c.256-1304T>C (n.256-1304T>C) c.421T>C (p.Phe141Leu) n.802T>C c.532T>C (p.Phe178Leu) c.742T>C (p.Phe248Leu) | |
| 15 | g.74896235T>G | CA7662538 | MPI | c.754T>G (p.Phe252Val) c.571T>G (p.Phe191Val) c.604T>G (p.Phe202Val) c.694T>G (p.Phe232Val) c.256-1304T>G (n.256-1304T>G) c.421T>G (p.Phe141Val) n.802T>G c.532T>G (p.Phe178Val) c.742T>G (p.Phe248Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74896235T= | CA2187901843 | MPI | c.754T= (p.Phe252=) c.571T= (p.Phe191=) c.604T= (p.Phe202=) c.694T= (p.Phe232=) c.256-1304T= (n.256-1304T=) c.421T= (p.Phe141=) n.802T= c.532T= (p.Phe178=) c.742T= (p.Phe248=) | |
| 15 | g.74896236T>A | CA393175938 | MPI | c.755T>A (p.Phe252Tyr) c.572T>A (p.Phe191Tyr) c.605T>A (p.Phe202Tyr) c.695T>A (p.Phe232Tyr) c.256-1303T>A (n.256-1303T>A) c.422T>A (p.Phe141Tyr) n.803T>A c.533T>A (p.Phe178Tyr) c.743T>A (p.Phe248Tyr) | |
| 15 | g.74896236T>C | CA393175939 | MPI | c.755T>C (p.Phe252Ser) c.572T>C (p.Phe191Ser) c.605T>C (p.Phe202Ser) c.695T>C (p.Phe232Ser) c.256-1303T>C (n.256-1303T>C) c.422T>C (p.Phe141Ser) n.803T>C c.533T>C (p.Phe178Ser) c.743T>C (p.Phe248Ser) | |
| 15 | g.74896236T>G | CA393175937 | MPI | c.755T>G (p.Phe252Cys) c.572T>G (p.Phe191Cys) c.605T>G (p.Phe202Cys) c.695T>G (p.Phe232Cys) c.256-1303T>G (n.256-1303T>G) c.422T>G (p.Phe141Cys) n.803T>G c.533T>G (p.Phe178Cys) c.743T>G (p.Phe248Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74896236T= | CA2187901847 | MPI | c.755T= (p.Phe252=) c.572T= (p.Phe191=) c.605T= (p.Phe202=) c.695T= (p.Phe232=) c.256-1303T= (n.256-1303T=) c.422T= (p.Phe141=) n.803T= c.533T= (p.Phe178=) c.743T= (p.Phe248=) | |
| 15 | g.74896237T>A | CA393175940 | MPI | c.756T>A (p.Phe252Leu) c.573T>A (p.Phe191Leu) c.606T>A (p.Phe202Leu) c.696T>A (p.Phe232Leu) c.256-1302T>A (n.256-1302T>A) c.423T>A (p.Phe141Leu) n.804T>A c.534T>A (p.Phe178Leu) c.744T>A (p.Phe248Leu) | |
| 15 | g.74896237T>C | CA491491406 | MPI | c.756T>C (p.Phe252=) c.573T>C (p.Phe191=) c.606T>C (p.Phe202=) c.696T>C (p.Phe232=) c.256-1302T>C (n.256-1302T>C) c.423T>C (p.Phe141=) n.804T>C c.534T>C (p.Phe178=) c.744T>C (p.Phe248=) | gnomAD v4 |
| 15 | g.74896237T>G | CA393175941 | MPI | c.756T>G (p.Phe252Leu) c.573T>G (p.Phe191Leu) c.606T>G (p.Phe202Leu) c.696T>G (p.Phe232Leu) c.256-1302T>G (n.256-1302T>G) c.423T>G (p.Phe141Leu) n.804T>G c.534T>G (p.Phe178Leu) c.744T>G (p.Phe248Leu) | |
| 15 | g.74896238G>A | CA393175942 | MPI | c.757G>A (p.Ala253Thr) c.574G>A (p.Ala192Thr) c.607G>A (p.Ala203Thr) c.697G>A (p.Ala233Thr) c.256-1301G>A (n.256-1301G>A) c.424G>A (p.Ala142Thr) n.805G>A c.535G>A (p.Ala179Thr) c.745G>A (p.Ala249Thr) | |
| 15 | g.74896238G>C | CA393175943 | MPI | c.757G>C (p.Ala253Pro) c.574G>C (p.Ala192Pro) c.607G>C (p.Ala203Pro) c.697G>C (p.Ala233Pro) c.256-1301G>C (n.256-1301G>C) c.424G>C (p.Ala142Pro) n.805G>C c.535G>C (p.Ala179Pro) c.745G>C (p.Ala249Pro) | |
| 15 | g.74896238G>T | CA393175944 | MPI | c.757G>T (p.Ala253Ser) c.574G>T (p.Ala192Ser) c.607G>T (p.Ala203Ser) c.697G>T (p.Ala233Ser) c.256-1301G>T (n.256-1301G>T) c.424G>T (p.Ala142Ser) n.805G>T c.535G>T (p.Ala179Ser) c.745G>T (p.Ala249Ser) | |
| 15 | g.74896239C>A | CA7662540 | MPI | c.758C>A (p.Ala253Asp) c.575C>A (p.Ala192Asp) c.608C>A (p.Ala203Asp) c.698C>A (p.Ala233Asp) c.256-1300C>A (n.256-1300C>A) c.425C>A (p.Ala142Asp) n.806C>A c.536C>A (p.Ala179Asp) c.746C>A (p.Ala249Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74896239C= | CA2187901849 | MPI | c.758C= (p.Ala253=) c.575C= (p.Ala192=) c.608C= (p.Ala203=) c.698C= (p.Ala233=) c.256-1300C= (n.256-1300C=) c.425C= (p.Ala142=) n.806C= c.536C= (p.Ala179=) c.746C= (p.Ala249=) | |
| 15 | g.74896239C>G | CA393175945 | MPI | c.758C>G (p.Ala253Gly) c.575C>G (p.Ala192Gly) c.608C>G (p.Ala203Gly) c.698C>G (p.Ala233Gly) c.256-1300C>G (n.256-1300C>G) c.425C>G (p.Ala142Gly) n.806C>G c.536C>G (p.Ala179Gly) c.746C>G (p.Ala249Gly) |