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 |
|---|---|---|---|---|---|
| 10 | g.80273845G>A | CA377360147 | MAT1A | c.1124C>T (p.Ala375Val) n.356C>T n.636C>T c.1001C>T (p.Ala334Val) | |
| 10 | g.80273845G>C | CA377360148 | MAT1A | c.1124C>G (p.Ala375Gly) n.356C>G n.636C>G c.1001C>G (p.Ala334Gly) | |
| 10 | g.80273845G>T | CA377360149 | MAT1A | c.1124C>A (p.Ala375Glu) n.356C>A n.636C>A c.1001C>A (p.Ala334Glu) | |
| 10 | g.80273846C>A | CA377360150 | MAT1A | c.1123G>T (p.Ala375Ser) n.355G>T n.635G>T c.1000G>T (p.Ala334Ser) | |
| 10 | g.80273846C= | CA1922577243 | MAT1A | c.1123G= (p.Ala375=) n.355G= n.635G= c.1000G= (p.Ala334=) | |
| 10 | g.80273846C>G | CA377360151 | MAT1A | c.1123G>C (p.Ala375Pro) n.355G>C n.635G>C c.1000G>C (p.Ala334Pro) | |
| 10 | g.80273846C>T | CA377360152 | MAT1A | c.1123G>A (p.Ala375Thr) n.355G>A n.635G>A c.1000G>A (p.Ala334Thr) | dbSNP gnomAD v4 |
| 10 | g.80273846_80273847del | CA2574454926 | MAT1A | c.1122_1123del (p.Ala375MetfsTer?) n.354_355del n.634_635del c.999_1000del (p.Ala334MetfsTer?) | gnomAD v4 |
| 10 | g.80273847T>A | CA470467190 | MAT1A | c.1122A>T (p.Thr374=) n.354A>T n.634A>T c.999A>T (p.Thr333=) | |
| 10 | g.80273847T>C | CA470467191 | MAT1A | c.1122A>G (p.Thr374=) n.354A>G n.634A>G c.999A>G (p.Thr333=) | |
| 10 | g.80273847T>G | CA470467192 | MAT1A | c.1122A>C (p.Thr374=) n.354A>C n.634A>C c.999A>C (p.Thr333=) | gnomAD v4 |
| 10 | g.80273848G>A | CA377360155 | MAT1A | c.1121C>T (p.Thr374Ile) n.353C>T n.633C>T c.998C>T (p.Thr333Ile) | |
| 10 | g.80273848G>C | CA377360153 | MAT1A | c.1121C>G (p.Thr374Arg) n.353C>G n.633C>G c.998C>G (p.Thr333Arg) | |
| 10 | g.80273848G>T | CA377360154 | MAT1A | c.1121C>A (p.Thr374Lys) n.353C>A n.633C>A c.998C>A (p.Thr333Lys) | |
| 10 | g.80273849T>A | CA377360156 | MAT1A | c.1120A>T (p.Thr374Ser) n.352A>T n.632A>T c.997A>T (p.Thr333Ser) | |
| 10 | g.80273849T>C | CA377360157 | MAT1A | c.1120A>G (p.Thr374Ala) n.352A>G n.632A>G c.997A>G (p.Thr333Ala) | |
| 10 | g.80273849T>G | CA377360158 | MAT1A | c.1120A>C (p.Thr374Pro) n.352A>C n.632A>C c.997A>C (p.Thr333Pro) | |
| 10 | g.80273850C>A | CA377360159 | MAT1A | c.1119G>T (p.Lys373Asn) n.351G>T n.631G>T c.996G>T (p.Lys332Asn) | gnomAD v4 |
| 10 | g.80273850C>G | CA377360160 | MAT1A | c.1119G>C (p.Lys373Asn) n.351G>C n.631G>C c.996G>C (p.Lys332Asn) | gnomAD v4 |
| 10 | g.80273850C>T | CA470467193 | MAT1A | c.1119G>A (p.Lys373=) n.351G>A n.631G>A c.996G>A (p.Lys332=) | COSMIC |
| 10 | g.80273851T>A | CA377360161 | MAT1A | c.1118A>T (p.Lys373Met) n.350A>T n.630A>T c.995A>T (p.Lys332Met) | |
| 10 | g.80273851T>C | CA377360162 | MAT1A | c.1118A>G (p.Lys373Arg) n.350A>G n.630A>G c.995A>G (p.Lys332Arg) | |
| 10 | g.80273851T>G | CA377360163 | MAT1A | c.1118A>C (p.Lys373Thr) n.350A>C n.630A>C c.995A>C (p.Lys332Thr) | |
| 10 | g.80273852T>A | CA377360164 | MAT1A | c.1117A>T (p.Lys373Ter) n.349A>T n.629A>T c.994A>T (p.Lys332Ter) | |
| 10 | g.80273852T>C | CA377360165 | MAT1A | c.1117A>G (p.Lys373Glu) n.349A>G n.629A>G c.994A>G (p.Lys332Glu) | |
| 10 | g.80273852T>G | CA377360166 | MAT1A | c.1117A>C (p.Lys373Gln) n.349A>C n.629A>C c.994A>C (p.Lys332Gln) | gnomAD v4 |
| 10 | g.80273853C>A | CA377360167 | MAT1A | c.1116G>T (p.Gln372His) n.348G>T n.628G>T c.993G>T (p.Gln331His) | |
| 10 | g.80273853C>G | CA377360168 | MAT1A | c.1116G>C (p.Gln372His) n.348G>C n.628G>C c.993G>C (p.Gln331His) | |
| 10 | g.80273853C>T | CA470467194 | MAT1A | c.1116G>A (p.Gln372=) n.348G>A n.628G>A c.993G>A (p.Gln331=) | gnomAD v4 |
| 10 | g.80273854T>A | CA377360169 | MAT1A | c.1115A>T (p.Gln372Leu) n.347A>T n.627A>T c.992A>T (p.Gln331Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80273854T>C | CA377360171 | MAT1A | c.1115A>G (p.Gln372Arg) n.347A>G n.627A>G c.992A>G (p.Gln331Arg) | |
| 10 | g.80273854T>G | CA377360170 | MAT1A | c.1115A>C (p.Gln372Pro) n.347A>C n.627A>C c.992A>C (p.Gln331Pro) | |
| 10 | g.80273854T= | CA1922577245 | MAT1A | c.1115A= (p.Gln372=) n.347A= n.627A= c.992A= (p.Gln331=) | |
| 10 | g.80273855G>A | CA377360172 | MAT1A | c.1114C>T (p.Gln372Ter) n.346C>T n.626C>T c.991C>T (p.Gln331Ter) | |
| 10 | g.80273855G>C | CA377360173 | MAT1A | c.1114C>G (p.Gln372Glu) n.346C>G n.626C>G c.991C>G (p.Gln331Glu) | |
| 10 | g.80273855G>T | CA377360174 | MAT1A | c.1114C>A (p.Gln372Lys) n.346C>A n.626C>A c.991C>A (p.Gln331Lys) | |
| 10 | g.80273856G>A | CA470467195 | MAT1A | c.1113C>T (p.Tyr371=) n.345C>T n.625C>T c.990C>T (p.Tyr330=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80273856G>C | CA377360175 | MAT1A | c.1113C>G (p.Tyr371Ter) n.345C>G n.625C>G c.990C>G (p.Tyr330Ter) | |
| 10 | g.80273856G= | CA1922577248 | MAT1A | c.1113C= (p.Tyr371=) n.345C= n.625C= c.990C= (p.Tyr330=) | |
| 10 | g.80273856G>T | CA377360176 | MAT1A | c.1113C>A (p.Tyr371Ter) n.345C>A n.625C>A c.990C>A (p.Tyr330Ter) | |
| 10 | g.80273857T>A | CA377360177 | MAT1A | c.1112A>T (p.Tyr371Phe) n.344A>T n.624A>T c.989A>T (p.Tyr330Phe) | |
| 10 | g.80273857T>C | CA377360178 | MAT1A | c.1112A>G (p.Tyr371Cys) n.344A>G n.624A>G c.989A>G (p.Tyr330Cys) | |
| 10 | g.80273857T>G | CA377360179 | MAT1A | c.1112A>C (p.Tyr371Ser) n.344A>C n.624A>C c.989A>C (p.Tyr330Ser) | |
| 10 | g.80273858A>C | CA377360180 | MAT1A | c.1111T>G (p.Tyr371Asp) n.343T>G n.623T>G c.988T>G (p.Tyr330Asp) | |
| 10 | g.80273858A>G | CA377360181 | MAT1A | c.1111T>C (p.Tyr371His) n.343T>C n.623T>C c.988T>C (p.Tyr330His) | |
| 10 | g.80273858A>T | CA377360182 | MAT1A | c.1111T>A (p.Tyr371Asn) n.343T>A n.623T>A c.988T>A (p.Tyr330Asn) | |
| 10 | g.80273859G>A | CA470467196 | MAT1A | c.1110C>T (p.Ile370=) n.342C>T n.622C>T c.987C>T (p.Ile329=) | |
| 10 | g.80273859G>C | CA377360183 | MAT1A | c.1110C>G (p.Ile370Met) n.342C>G n.622C>G c.987C>G (p.Ile329Met) | |
| 10 | g.80273859G>T | CA470467197 | MAT1A | c.1110C>A (p.Ile370=) n.342C>A n.622C>A c.987C>A (p.Ile329=) | |
| 10 | g.80273860A>C | CA377360186 | MAT1A | c.1109T>G (p.Ile370Ser) n.341T>G n.621T>G c.986T>G (p.Ile329Ser) |