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 |
|---|---|---|---|---|---|
| 19 | g.34378971C>A | CA405251419 | GPI | c.671C>A (p.Thr224Lys) c.788C>A (p.Thr263Lys) c.559C>A c.704C>A (p.Thr235Lys) c.440C>A (p.Thr147Lys) n.1181C>A c.716C>A (p.Thr239Lys) c.587C>A (p.Thr196Lys) | |
| 19 | g.34378971C= | CA2333167646 | GPI | c.671C= (p.Thr224=) c.788C= (p.Thr263=) c.559C= c.704C= (p.Thr235=) c.440C= (p.Thr147=) n.1181C= c.716C= (p.Thr239=) c.587C= (p.Thr196=) | |
| 19 | g.34378971C>G | CA405251421 | GPI | c.671C>G (p.Thr224Arg) c.788C>G (p.Thr263Arg) c.559C>G c.704C>G (p.Thr235Arg) c.440C>G (p.Thr147Arg) n.1181C>G c.716C>G (p.Thr239Arg) c.587C>G (p.Thr196Arg) | |
| 19 | g.34378971C>T | CA123318 | GPI | c.671C>T (p.Thr224Met) c.788C>T (p.Thr263Met) c.559C>T c.704C>T (p.Thr235Met) c.440C>T (p.Thr147Met) n.1181C>T c.716C>T (p.Thr239Met) c.587C>T (p.Thr196Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.34378972G>A | CA9367153 | GPI | c.672G>A (p.Thr224=) c.789G>A (p.Thr263=) c.560G>A c.705G>A (p.Thr235=) c.441G>A (p.Thr147=) n.1182G>A c.717G>A (p.Thr239=) c.588G>A (p.Thr196=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.34378972G>C | CA506696033 | GPI | c.672G>C (p.Thr224=) c.789G>C (p.Thr263=) c.560G>C c.705G>C (p.Thr235=) c.441G>C (p.Thr147=) n.1182G>C c.717G>C (p.Thr239=) c.588G>C (p.Thr196=) | |
| 19 | g.34378972G= | CA2333167653 | GPI | c.672G= (p.Thr224=) c.789G= (p.Thr263=) c.560G= c.705G= (p.Thr235=) c.441G= (p.Thr147=) n.1182G= c.717G= (p.Thr239=) c.588G= (p.Thr196=) | |
| 19 | g.34378972G>T | CA506696034 | GPI | c.672G>T (p.Thr224=) c.789G>T (p.Thr263=) c.560G>T c.705G>T (p.Thr235=) c.441G>T (p.Thr147=) n.1182G>T c.717G>T (p.Thr239=) c.588G>T (p.Thr196=) | |
| 19 | g.34378973G>A | CA405251425 | GPI | c.673G>A (p.Ala225Thr) c.790G>A (p.Ala264Thr) c.561G>A c.706G>A (p.Ala236Thr) c.442G>A (p.Ala148Thr) n.1183G>A c.718G>A (p.Ala240Thr) c.589G>A (p.Ala197Thr) | |
| 19 | g.34378973G>C | CA405251427 | GPI | c.673G>C (p.Ala225Pro) c.790G>C (p.Ala264Pro) c.561G>C c.706G>C (p.Ala236Pro) c.442G>C (p.Ala148Pro) n.1183G>C c.718G>C (p.Ala240Pro) c.589G>C (p.Ala197Pro) | |
| 19 | g.34378973G= | CA2333167656 | GPI | c.673G= (p.Ala225=) c.790G= (p.Ala264=) c.561G= c.706G= (p.Ala236=) c.442G= (p.Ala148=) n.1183G= c.718G= (p.Ala240=) c.589G= (p.Ala197=) | |
| 19 | g.34378973G>T | CA405251423 | GPI | c.673G>T (p.Ala225Ser) c.790G>T (p.Ala264Ser) c.561G>T c.706G>T (p.Ala236Ser) c.442G>T (p.Ala148Ser) n.1183G>T c.718G>T (p.Ala240Ser) c.589G>T (p.Ala197Ser) | dbSNP gnomAD v4 |
| 19 | g.34378974C>A | CA405251429 | GPI | c.674C>A (p.Ala225Glu) c.791C>A (p.Ala264Glu) c.562C>A c.707C>A (p.Ala236Glu) c.443C>A (p.Ala148Glu) n.1184C>A c.719C>A (p.Ala240Glu) c.590C>A (p.Ala197Glu) | |
| 19 | g.34378974C= | CA2333167660 | GPI | c.674C= (p.Ala225=) c.791C= (p.Ala264=) c.562C= c.707C= (p.Ala236=) c.443C= (p.Ala148=) n.1184C= c.719C= (p.Ala240=) c.590C= (p.Ala197=) | |
| 19 | g.34378974C>G | CA405251430 | GPI | c.674C>G (p.Ala225Gly) c.791C>G (p.Ala264Gly) c.562C>G c.707C>G (p.Ala236Gly) c.443C>G (p.Ala148Gly) n.1184C>G c.719C>G (p.Ala240Gly) c.590C>G (p.Ala197Gly) | |
| 19 | g.34378974C>T | CA9367154 | GPI | c.674C>T (p.Ala225Val) c.791C>T (p.Ala264Val) c.562C>T c.707C>T (p.Ala236Val) c.443C>T (p.Ala148Val) n.1184C>T c.719C>T (p.Ala240Val) c.590C>T (p.Ala197Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.34378975G>A | CA506696037 | GPI | c.675G>A (p.Ala225=) c.792G>A (p.Ala264=) c.563G>A c.708G>A (p.Ala236=) c.444G>A (p.Ala148=) n.1185G>A c.720G>A (p.Ala240=) c.591G>A (p.Ala197=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.34378975G>C | CA506696039 | GPI | c.675G>C (p.Ala225=) c.792G>C (p.Ala264=) c.563G>C c.708G>C (p.Ala236=) c.444G>C (p.Ala148=) n.1185G>C c.720G>C (p.Ala240=) c.591G>C (p.Ala197=) | |
| 19 | g.34378975G= | CA2333167663 | GPI | c.675G= (p.Ala225=) c.792G= (p.Ala264=) c.563G= c.708G= (p.Ala236=) c.444G= (p.Ala148=) n.1185G= c.720G= (p.Ala240=) c.591G= (p.Ala197=) | |
| 19 | g.34378975G>T | CA506696038 | GPI | c.675G>T (p.Ala225=) c.792G>T (p.Ala264=) c.563G>T c.708G>T (p.Ala236=) c.444G>T (p.Ala148=) n.1185G>T c.720G>T (p.Ala240=) c.591G>T (p.Ala197=) | |
| 19 | g.34378976A>C | CA405251431 | GPI | c.676A>C (p.Lys226Gln) c.793A>C (p.Lys265Gln) c.564A>C c.709A>C (p.Lys237Gln) c.445A>C (p.Lys149Gln) n.1186A>C c.721A>C (p.Lys241Gln) c.592A>C (p.Lys198Gln) | |
| 19 | g.34378976A>G | CA405251433 | GPI | c.676A>G (p.Lys226Glu) c.793A>G (p.Lys265Glu) c.564A>G c.709A>G (p.Lys237Glu) c.445A>G (p.Lys149Glu) n.1186A>G c.721A>G (p.Lys241Glu) c.592A>G (p.Lys198Glu) | |
| 19 | g.34378976A>T | CA405251435 | GPI | c.676A>T (p.Lys226Ter) c.793A>T (p.Lys265Ter) c.564A>T c.709A>T (p.Lys237Ter) c.445A>T (p.Lys149Ter) n.1186A>T c.721A>T (p.Lys241Ter) c.592A>T (p.Lys198Ter) | |
| 19 | g.34378977A= | CA2333167681 | GPI | c.677A= (p.Lys226=) c.794A= (p.Lys265=) c.565A= c.710A= (p.Lys237=) c.446A= (p.Lys149=) n.1187A= c.722A= (p.Lys241=) c.593A= (p.Lys198=) | |
| 19 | g.34378977A>C | CA405251438 | GPI | c.677A>C (p.Lys226Thr) c.794A>C (p.Lys265Thr) c.565A>C c.710A>C (p.Lys237Thr) c.446A>C (p.Lys149Thr) n.1187A>C c.722A>C (p.Lys241Thr) c.593A>C (p.Lys198Thr) | |
| 19 | g.34378977A>G | CA405251436 | GPI | c.677A>G (p.Lys226Arg) c.794A>G (p.Lys265Arg) c.565A>G c.710A>G (p.Lys237Arg) c.446A>G (p.Lys149Arg) n.1187A>G c.722A>G (p.Lys241Arg) c.593A>G (p.Lys198Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.34378977A>T | CA405251437 | GPI | c.677A>T (p.Lys226Met) c.794A>T (p.Lys265Met) c.565A>T c.710A>T (p.Lys237Met) c.446A>T (p.Lys149Met) n.1187A>T c.722A>T (p.Lys241Met) c.593A>T (p.Lys198Met) | |
| 19 | g.34378978G>A | CA506696040 | GPI | c.678G>A (p.Lys226=) c.795G>A (p.Lys265=) c.566G>A c.711G>A (p.Lys237=) c.447G>A (p.Lys149=) n.1188G>A c.723G>A (p.Lys241=) n.1G>A c.594G>A (p.Lys198=) | gnomAD v4 |
| 19 | g.34378978G>C | CA405251439 | GPI | c.678G>C (p.Lys226Asn) c.795G>C (p.Lys265Asn) c.566G>C c.711G>C (p.Lys237Asn) c.447G>C (p.Lys149Asn) n.1188G>C c.723G>C (p.Lys241Asn) n.1G>C c.594G>C (p.Lys198Asn) | |
| 19 | g.34378978G>T | CA405251440 | GPI | c.678G>T (p.Lys226Asn) c.795G>T (p.Lys265Asn) c.566G>T c.711G>T (p.Lys237Asn) c.447G>T (p.Lys149Asn) n.1188G>T c.723G>T (p.Lys241Asn) n.1G>T c.594G>T (p.Lys198Asn) | |
| 19 | g.34378979G>A | CA405251441 | GPI | c.679G>A (p.Glu227Lys) c.796G>A (p.Glu266Lys) c.567G>A c.712G>A (p.Glu238Lys) c.448G>A (p.Glu150Lys) n.1189G>A c.724G>A (p.Glu242Lys) n.2G>A c.595G>A (p.Glu199Lys) | gnomAD v4 |
| 19 | g.34378979G>C | CA405251442 | GPI | c.679G>C (p.Glu227Gln) c.796G>C (p.Glu266Gln) c.567G>C c.712G>C (p.Glu238Gln) c.448G>C (p.Glu150Gln) n.1189G>C c.724G>C (p.Glu242Gln) n.2G>C c.595G>C (p.Glu199Gln) | |
| 19 | g.34378979G>T | CA405251443 | GPI | c.679G>T (p.Glu227Ter) c.796G>T (p.Glu266Ter) c.567G>T c.712G>T (p.Glu238Ter) c.448G>T (p.Glu150Ter) n.1189G>T c.724G>T (p.Glu242Ter) n.2G>T c.595G>T (p.Glu199Ter) | |
| 19 | g.34378980A= | CA2333167683 | GPI | c.680A= (p.Glu227=) c.797A= (p.Glu266=) c.568A= c.713A= (p.Glu238=) c.449A= (p.Glu150=) n.1190A= c.725A= (p.Glu242=) n.3A= c.596A= (p.Glu199=) | |
| 19 | g.34378980A>C | CA307663430 | GPI | c.680A>C (p.Glu227Ala) c.797A>C (p.Glu266Ala) c.568A>C c.713A>C (p.Glu238Ala) c.449A>C (p.Glu150Ala) n.1190A>C c.725A>C (p.Glu242Ala) n.3A>C c.596A>C (p.Glu199Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.34378980A>G | CA9367155 | GPI | c.680A>G (p.Glu227Gly) c.797A>G (p.Glu266Gly) c.568A>G c.713A>G (p.Glu238Gly) c.449A>G (p.Glu150Gly) n.1190A>G c.725A>G (p.Glu242Gly) n.3A>G c.596A>G (p.Glu199Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.34378980A>T | CA405251446 | GPI | c.680A>T (p.Glu227Val) c.797A>T (p.Glu266Val) c.568A>T c.713A>T (p.Glu238Val) c.449A>T (p.Glu150Val) n.1190A>T c.725A>T (p.Glu242Val) n.3A>T c.596A>T (p.Glu199Val) | dbSNP |
| 19 | g.34378981G>A | CA506696042 | GPI | c.681G>A (p.Glu227=) c.798G>A (p.Glu266=) c.569G>A c.714G>A (p.Glu238=) c.450G>A (p.Glu150=) n.1191G>A c.726G>A (p.Glu242=) n.4G>A c.597G>A (p.Glu199=) | |
| 19 | g.34378981G>C | CA405251447 | GPI | c.681G>C (p.Glu227Asp) c.798G>C (p.Glu266Asp) c.569G>C c.714G>C (p.Glu238Asp) c.450G>C (p.Glu150Asp) n.1191G>C c.726G>C (p.Glu242Asp) n.4G>C c.597G>C (p.Glu199Asp) | |
| 19 | g.34378981G= | CA2333167688 | GPI | c.681G= (p.Glu227=) c.798G= (p.Glu266=) c.569G= c.714G= (p.Glu238=) c.450G= (p.Glu150=) n.1191G= c.726G= (p.Glu242=) n.4G= c.597G= (p.Glu199=) | |
| 19 | g.34378981G>T | CA9367156 | GPI | c.681G>T (p.Glu227Asp) c.798G>T (p.Glu266Asp) c.569G>T c.714G>T (p.Glu238Asp) c.450G>T (p.Glu150Asp) n.1191G>T c.726G>T (p.Glu242Asp) n.4G>T c.597G>T (p.Glu199Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.34378982T>A | CA405251449 | GPI | c.682T>A (p.Trp228Arg) c.799T>A (p.Trp267Arg) c.570T>A c.715T>A (p.Trp239Arg) c.451T>A (p.Trp151Arg) n.1192T>A c.727T>A (p.Trp243Arg) n.5T>A c.598T>A (p.Trp200Arg) | |
| 19 | g.34378982T>C | CA405251451 | GPI | c.682T>C (p.Trp228Arg) c.799T>C (p.Trp267Arg) c.570T>C c.715T>C (p.Trp239Arg) c.451T>C (p.Trp151Arg) n.1192T>C c.727T>C (p.Trp243Arg) n.5T>C c.598T>C (p.Trp200Arg) | gnomAD v4 |
| 19 | g.34378982T>G | CA405251452 | GPI | c.682T>G (p.Trp228Gly) c.799T>G (p.Trp267Gly) c.570T>G c.715T>G (p.Trp239Gly) c.451T>G (p.Trp151Gly) n.1192T>G c.727T>G (p.Trp243Gly) n.5T>G c.598T>G (p.Trp200Gly) | dbSNP |
| 19 | g.34378982T= | CA2333167691 | GPI | c.682T= (p.Trp228=) c.799T= (p.Trp267=) c.570T= c.715T= (p.Trp239=) c.451T= (p.Trp151=) n.1192T= c.727T= (p.Trp243=) n.5T= c.598T= (p.Trp200=) | |
| 19 | g.34378983G>A | CA405251454 | GPI | c.683G>A (p.Trp228Ter) c.800G>A (p.Trp267Ter) c.571G>A c.716G>A (p.Trp239Ter) c.452G>A (p.Trp151Ter) n.1193G>A c.728G>A (p.Trp243Ter) n.6G>A c.599G>A (p.Trp200Ter) | |
| 19 | g.34378983G>C | CA405251456 | GPI | c.683G>C (p.Trp228Ser) c.800G>C (p.Trp267Ser) c.571G>C c.716G>C (p.Trp239Ser) c.452G>C (p.Trp151Ser) n.1193G>C c.728G>C (p.Trp243Ser) n.6G>C c.599G>C (p.Trp200Ser) | |
| 19 | g.34378983G>T | CA405251457 | GPI | c.683G>T (p.Trp228Leu) c.800G>T (p.Trp267Leu) c.571G>T c.716G>T (p.Trp239Leu) c.452G>T (p.Trp151Leu) n.1193G>T c.728G>T (p.Trp243Leu) n.6G>T c.599G>T (p.Trp200Leu) | |
| 19 | g.34378984G>A | CA405251459 | GPI | c.684G>A (p.Trp228Ter) c.801G>A (p.Trp267Ter) c.572G>A c.717G>A (p.Trp239Ter) c.453G>A (p.Trp151Ter) n.1194G>A c.729G>A (p.Trp243Ter) n.7G>A c.600G>A (p.Trp200Ter) | gnomAD v4 |
| 19 | g.34378984G>C | CA405251461 | GPI | c.684G>C (p.Trp228Cys) c.801G>C (p.Trp267Cys) c.572G>C c.717G>C (p.Trp239Cys) c.453G>C (p.Trp151Cys) n.1194G>C c.729G>C (p.Trp243Cys) n.7G>C c.600G>C (p.Trp200Cys) |