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 |
|---|---|---|---|---|---|
| 1 | g.146018217G>A | CA420250164 | HJV | c.1141C>T (p.Leu381=) c.463C>T (p.Leu155=) c.802C>T (p.Leu268=) | |
| 1 | g.146018217G>C | CA342132491 | HJV | c.1141C>G (p.Leu381Val) c.463C>G (p.Leu155Val) c.802C>G (p.Leu268Val) | dbSNP |
| 1 | g.146018217G= | CA1198820885 | HJV | c.1141C= (p.Leu381=) c.463C= (p.Leu155=) c.802C= (p.Leu268=) | |
| 1 | g.146018217G>T | CA342132495 | HJV | c.1141C>A (p.Leu381Met) c.463C>A (p.Leu155Met) c.802C>A (p.Leu268Met) | ClinVar dbSNP |
| 1 | g.146018218T>A | CA420250166 | HJV | c.1140A>T (p.Ala380=) c.462A>T (p.Ala154=) c.801A>T (p.Ala267=) | |
| 1 | g.146018218T>C | CA420250167 | HJV | c.1140A>G (p.Ala380=) c.462A>G (p.Ala154=) c.801A>G (p.Ala267=) | |
| 1 | g.146018218T>G | CA420250165 | HJV | c.1140A>C (p.Ala380=) c.462A>C (p.Ala154=) c.801A>C (p.Ala267=) | |
| 1 | g.146018219G>A | CA342132501 | HJV | c.1139C>T (p.Ala380Val) c.461C>T (p.Ala154Val) c.800C>T (p.Ala267Val) | |
| 1 | g.146018219G>C | CA342132510 | HJV | c.1139C>G (p.Ala380Gly) c.461C>G (p.Ala154Gly) c.800C>G (p.Ala267Gly) | |
| 1 | g.146018219G>T | CA342132512 | HJV | c.1139C>A (p.Ala380Glu) c.461C>A (p.Ala154Glu) c.800C>A (p.Ala267Glu) | |
| 1 | g.146018220C>A | CA342132523 | HJV | c.1138G>T (p.Ala380Ser) c.460G>T (p.Ala154Ser) c.799G>T (p.Ala267Ser) | |
| 1 | g.146018220C>G | CA342132531 | HJV | c.1138G>C (p.Ala380Pro) c.460G>C (p.Ala154Pro) c.799G>C (p.Ala267Pro) | |
| 1 | g.146018220C>T | CA342132534 | HJV | c.1138G>A (p.Ala380Thr) c.460G>A (p.Ala154Thr) c.799G>A (p.Ala267Thr) | |
| 1 | g.146018221T>A | CA420250170 | HJV | c.1137A>T (p.Ala379=) c.459A>T (p.Ala153=) c.798A>T (p.Ala266=) | |
| 1 | g.146018221T>C | CA420250169 | HJV | c.1137A>G (p.Ala379=) c.459A>G (p.Ala153=) c.798A>G (p.Ala266=) | |
| 1 | g.146018221T>G | CA420250168 | HJV | c.1137A>C (p.Ala379=) c.459A>C (p.Ala153=) c.798A>C (p.Ala266=) | |
| 1 | g.146018222G>A | CA29823087 | HJV | c.1136C>T (p.Ala379Val) c.458C>T (p.Ala153Val) c.797C>T (p.Ala266Val) | gnomAD v4 |
| 1 | g.146018222G>C | CA29823101 | HJV | c.1136C>G (p.Ala379Gly) c.458C>G (p.Ala153Gly) c.797C>G (p.Ala266Gly) | |
| 1 | g.146018222G= | CA1198820886 | HJV | c.1136C= (p.Ala379=) c.458C= (p.Ala153=) c.797C= (p.Ala266=) | |
| 1 | g.146018222G>T | CA1053966 | HJV | c.1136C>A (p.Ala379Glu) c.458C>A (p.Ala153Glu) c.797C>A (p.Ala266Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018223C>A | CA342132576 | HJV | c.1135G>T (p.Ala379Ser) c.457G>T (p.Ala153Ser) c.796G>T (p.Ala266Ser) | |
| 1 | g.146018223C>G | CA342132554 | HJV | c.1135G>C (p.Ala379Pro) c.457G>C (p.Ala153Pro) c.796G>C (p.Ala266Pro) | |
| 1 | g.146018223C>T | CA342132558 | HJV | c.1135G>A (p.Ala379Thr) c.457G>A (p.Ala153Thr) c.796G>A (p.Ala266Thr) | |
| 1 | g.146018224C>A | CA342132582 | HJV | c.1134G>T (p.Gln378His) c.456G>T (p.Gln152His) c.795G>T (p.Gln265His) | |
| 1 | g.146018224C>G | CA342132586 | HJV | c.1134G>C (p.Gln378His) c.456G>C (p.Gln152His) c.795G>C (p.Gln265His) | |
| 1 | g.146018224C>T | CA420250171 | HJV | c.1134G>A (p.Gln378=) c.456G>A (p.Gln152=) c.795G>A (p.Gln265=) | ClinVar dbSNP |
| 1 | g.146018225T>A | CA342132589 | HJV | c.1133A>T (p.Gln378Leu) c.455A>T (p.Gln152Leu) c.794A>T (p.Gln265Leu) | |
| 1 | g.146018225T>C | CA342132591 | HJV | c.1133A>G (p.Gln378Arg) c.455A>G (p.Gln152Arg) c.794A>G (p.Gln265Arg) | gnomAD v4 |
| 1 | g.146018225T>G | CA342132593 | HJV | c.1133A>C (p.Gln378Pro) c.455A>C (p.Gln152Pro) c.794A>C (p.Gln265Pro) | |
| 1 | g.146018226G>A | CA342132599 | HJV | c.1132C>T (p.Gln378Ter) c.454C>T (p.Gln152Ter) c.793C>T (p.Gln265Ter) | |
| 1 | g.146018226G>C | CA342132604 | HJV | c.1132C>G (p.Gln378Glu) c.454C>G (p.Gln152Glu) c.793C>G (p.Gln265Glu) | |
| 1 | g.146018226G>T | CA342132606 | HJV | c.1132C>A (p.Gln378Lys) c.454C>A (p.Gln152Lys) c.793C>A (p.Gln265Lys) | |
| 1 | g.146018227A>C | CA420250173 | HJV | c.1131T>G (p.Ala377=) c.453T>G (p.Ala151=) c.792T>G (p.Ala264=) | |
| 1 | g.146018227A>G | CA420250172 | HJV | c.1131T>C (p.Ala377=) c.453T>C (p.Ala151=) c.792T>C (p.Ala264=) | |
| 1 | g.146018227A>T | CA420250174 | HJV | c.1131T>A (p.Ala377=) c.453T>A (p.Ala151=) c.792T>A (p.Ala264=) | |
| 1 | g.146018228G>A | CA342132613 | HJV | c.1130C>T (p.Ala377Val) c.452C>T (p.Ala151Val) c.791C>T (p.Ala264Val) | |
| 1 | g.146018228G>C | CA342132615 | HJV | c.1130C>G (p.Ala377Gly) c.452C>G (p.Ala151Gly) c.791C>G (p.Ala264Gly) | |
| 1 | g.146018228G>T | CA342132626 | HJV | c.1130C>A (p.Ala377Asp) c.452C>A (p.Ala151Asp) c.791C>A (p.Ala264Asp) | |
| 1 | g.146018229C>A | CA342132676 | HJV | c.1129G>T (p.Ala377Ser) c.451G>T (p.Ala151Ser) c.790G>T (p.Ala264Ser) | |
| 1 | g.146018229C= | CA1198820887 | HJV | c.1129G= (p.Ala377=) c.451G= (p.Ala151=) c.790G= (p.Ala264=) | |
| 1 | g.146018229C>G | CA342132679 | HJV | c.1129G>C (p.Ala377Pro) c.451G>C (p.Ala151Pro) c.790G>C (p.Ala264Pro) | |
| 1 | g.146018229C>T | CA342132669 | HJV | c.1129G>A (p.Ala377Thr) c.451G>A (p.Ala151Thr) c.790G>A (p.Ala264Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.146018230T>A | CA420250177 | HJV | c.1128A>T (p.Ala376=) c.450A>T (p.Ala150=) c.789A>T (p.Ala263=) | |
| 1 | g.146018230T>C | CA420250175 | HJV | c.1128A>G (p.Ala376=) c.450A>G (p.Ala150=) c.789A>G (p.Ala263=) | |
| 1 | g.146018230T>G | CA420250176 | HJV | c.1128A>C (p.Ala376=) c.450A>C (p.Ala150=) c.789A>C (p.Ala263=) | dbSNP |
| 1 | g.146018230T= | CA1198820888 | HJV | c.1128A= (p.Ala376=) c.450A= (p.Ala150=) c.789A= (p.Ala263=) | |
| 1 | g.146018231G>A | CA342132685 | HJV | c.1127C>T (p.Ala376Val) c.449C>T (p.Ala150Val) c.788C>T (p.Ala263Val) | |
| 1 | g.146018231G>C | CA342132693 | HJV | c.1127C>G (p.Ala376Gly) c.449C>G (p.Ala150Gly) c.788C>G (p.Ala263Gly) | |
| 1 | g.146018231G>T | CA342132696 | HJV | c.1127C>A (p.Ala376Glu) c.449C>A (p.Ala150Glu) c.788C>A (p.Ala263Glu) | COSMIC |
| 1 | g.146018232C>A | CA342132699 | HJV | c.1126G>T (p.Ala376Ser) c.448G>T (p.Ala150Ser) c.787G>T (p.Ala263Ser) |