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 |
|---|---|---|---|---|---|
| 7 | g.129210500G>A | CA369247106 | SMO | c.1604G>A (p.Trp535Ter) c.*1359G>A (n.*1359G>A) c.575G>A c.1214G>A (p.Trp405Ter) | dbSNP |
| 7 | g.129210500G>C | CA369247103 | SMO | c.1604G>C (p.Trp535Ser) c.*1359G>C (n.*1359G>C) c.575G>C c.1214G>C (p.Trp405Ser) | dbSNP |
| 7 | g.129210500G= | CA1742695571 | SMO | c.1604G= (p.Trp535=) c.*1359G= (n.*1359G=) c.575G= c.1214G= (p.Trp405=) | |
| 7 | g.129210500G>T | CA119302 | SMO | c.1604G>T (p.Trp535Leu) c.*1359G>T (n.*1359G>T) c.575G>T c.1214G>T (p.Trp405Leu) | ClinVar dbSNP COSMIC |
| 7 | g.129210501G>A | CA369247108 | SMO | c.1605G>A (p.Trp535Ter) c.*1360G>A (n.*1360G>A) c.576G>A c.1215G>A (p.Trp405Ter) | dbSNP |
| 7 | g.129210501G>C | CA369247110 | SMO | c.1605G>C (p.Trp535Cys) c.*1360G>C (n.*1360G>C) c.576G>C c.1215G>C (p.Trp405Cys) | dbSNP |
| 7 | g.129210501G= | CA1742695580 | SMO | c.1605G= (p.Trp535=) c.*1360G= (n.*1360G=) c.576G= c.1215G= (p.Trp405=) | |
| 7 | g.129210501G>T | CA369247112 | SMO | c.1605G>T (p.Trp535Cys) c.*1360G>T (n.*1360G>T) c.576G>T c.1215G>T (p.Trp405Cys) | dbSNP |
| 7 | g.129210502G>A | CA369247114 | SMO | c.1606G>A (p.Val536Ile) c.*1361G>A (n.*1361G>A) c.577G>A c.1216G>A (p.Val406Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.129210502G>C | CA369247115 | SMO | c.1606G>C (p.Val536Leu) c.*1361G>C (n.*1361G>C) c.577G>C c.1216G>C (p.Val406Leu) | dbSNP |
| 7 | g.129210502G= | CA1742695586 | SMO | c.1606G= (p.Val536=) c.*1361G= (n.*1361G=) c.577G= c.1216G= (p.Val406=) | |
| 7 | g.129210502G>T | CA369247117 | SMO | c.1606G>T (p.Val536Phe) c.*1361G>T (n.*1361G>T) c.577G>T c.1216G>T (p.Val406Phe) | |
| 7 | g.129210503T>A | CA369247119 | SMO | c.1607T>A (p.Val536Asp) c.*1362T>A (n.*1362T>A) c.578T>A c.1217T>A (p.Val406Asp) | dbSNP |
| 7 | g.129210503T>C | CA4479431 | SMO | c.1607T>C (p.Val536Ala) c.*1362T>C (n.*1362T>C) c.578T>C c.1217T>C (p.Val406Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.129210503T>G | CA369247122 | SMO | c.1607T>G (p.Val536Gly) c.*1362T>G (n.*1362T>G) c.578T>G c.1217T>G (p.Val406Gly) | |
| 7 | g.129210503T= | CA1742695589 | SMO | c.1607T= (p.Val536=) c.*1362T= (n.*1362T=) c.578T= c.1217T= (p.Val406=) | |
| 7 | g.129210504C>A | CA457628271 | SMO | c.1608C>A (p.Val536=) c.*1363C>A (n.*1363C>A) c.579C>A c.1218C>A (p.Val406=) | dbSNP |
| 7 | g.129210504C>G | CA457628272 | SMO | c.1608C>G (p.Val536=) c.*1363C>G (n.*1363C>G) c.579C>G c.1218C>G (p.Val406=) | dbSNP gnomAD v4 |
| 7 | g.129210504C>T | CA457628273 | SMO | c.1608C>T (p.Val536=) c.*1363C>T (n.*1363C>T) c.579C>T c.1218C>T (p.Val406=) | dbSNP gnomAD v4 |
| 7 | g.129210505T>A | CA369247125 | SMO | c.1609T>A (p.Trp537Arg) c.*1364T>A (n.*1364T>A) c.580T>A c.1219T>A (p.Trp407Arg) | |
| 7 | g.129210505T>C | CA369247127 | SMO | c.1609T>C (p.Trp537Arg) c.*1364T>C (n.*1364T>C) c.580T>C c.1219T>C (p.Trp407Arg) | |
| 7 | g.129210505T>G | CA369247129 | SMO | c.1609T>G (p.Trp537Gly) c.*1364T>G (n.*1364T>G) c.580T>G c.1219T>G (p.Trp407Gly) | |
| 7 | g.129210506G>A | CA369247135 | SMO | c.1610G>A (p.Trp537Ter) c.*1365G>A (n.*1365G>A) c.581G>A c.1220G>A (p.Trp407Ter) | dbSNP |
| 7 | g.129210506G>C | CA369247133 | SMO | c.1610G>C (p.Trp537Ser) c.*1365G>C (n.*1365G>C) c.581G>C c.1220G>C (p.Trp407Ser) | |
| 7 | g.129210506G>T | CA369247131 | SMO | c.1610G>T (p.Trp537Leu) c.*1365G>T (n.*1365G>T) c.581G>T c.1220G>T (p.Trp407Leu) | |
| 7 | g.129210507G>A | CA369247137 | SMO | c.1611G>A (p.Trp537Ter) c.*1366G>A (n.*1366G>A) c.582G>A c.1221G>A (p.Trp407Ter) | dbSNP gnomAD v4 |
| 7 | g.129210507G>C | CA369247142 | SMO | c.1611G>C (p.Trp537Cys) c.*1366G>C (n.*1366G>C) c.582G>C c.1221G>C (p.Trp407Cys) | dbSNP |
| 7 | g.129210507G= | CA1742695595 | SMO | c.1611G= (p.Trp537=) c.*1366G= (n.*1366G=) c.582G= c.1221G= (p.Trp407=) | |
| 7 | g.129210507G>T | CA369247139 | SMO | c.1611G>T (p.Trp537Cys) c.*1366G>T (n.*1366G>T) c.582G>T c.1221G>T (p.Trp407Cys) | |
| 7 | g.129210508A>C | CA369247146 | SMO | c.1612A>C (p.Thr538Pro) c.*1367A>C (n.*1367A>C) c.583A>C c.1A>C (p.Thr1Pro) c.1222A>C (p.Thr408Pro) | |
| 7 | g.129210508A>G | CA369247147 | SMO | c.1612A>G (p.Thr538Ala) c.*1367A>G (n.*1367A>G) c.583A>G c.1A>G (p.Thr1Ala) c.1222A>G (p.Thr408Ala) | gnomAD v4 |
| 7 | g.129210508A>T | CA369247149 | SMO | c.1612A>T (p.Thr538Ser) c.*1367A>T (n.*1367A>T) c.583A>T c.1A>T (p.Thr1Ser) c.1222A>T (p.Thr408Ser) | |
| 7 | g.129210509C>A | CA369247152 | SMO | c.1613C>A (p.Thr538Asn) c.*1368C>A (n.*1368C>A) c.584C>A c.2C>A (p.Thr1Asn) c.1223C>A (p.Thr408Asn) | |
| 7 | g.129210509C>G | CA369247153 | SMO | c.1613C>G (p.Thr538Ser) c.*1368C>G (n.*1368C>G) c.584C>G c.2C>G (p.Thr1Ser) c.1223C>G (p.Thr408Ser) | dbSNP |
| 7 | g.129210509C>T | CA369247155 | SMO | c.1613C>T (p.Thr538Ile) c.*1368C>T (n.*1368C>T) c.584C>T c.2C>T (p.Thr1Ile) c.1223C>T (p.Thr408Ile) | |
| 7 | g.129210510dup | CA2684855472 | SMO | c.1614dup (p.Lys539GlnfsTer19) c.*1369dup (n.*1369dup) c.585dup c.3dup (p.Lys2GlnfsTer19) c.1224dup (p.Lys409GlnfsTer19) | gnomAD v4 |
| 7 | g.129210510C>A | CA457628274 | SMO | c.1614C>A (p.Thr538=) c.*1369C>A (n.*1369C>A) c.585C>A c.3C>A (p.Thr1=) c.1224C>A (p.Thr408=) | |
| 7 | g.129210510C>G | CA457628275 | SMO | c.1614C>G (p.Thr538=) c.*1369C>G (n.*1369C>G) c.585C>G c.3C>G (p.Thr1=) c.1224C>G (p.Thr408=) | |
| 7 | g.129210510C>T | CA457628276 | SMO | c.1614C>T (p.Thr538=) c.*1369C>T (n.*1369C>T) c.585C>T c.3C>T (p.Thr1=) c.1224C>T (p.Thr408=) | dbSNP gnomAD v4 |
| 7 | g.129210511A= | CA1742695597 | SMO | c.1615A= (p.Lys539=) c.*1370A= (n.*1370A=) c.586A= c.4A= (p.Lys2=) c.1225A= (p.Lys409=) | |
| 7 | g.129210511A>C | CA369247158 | SMO | c.1615A>C (p.Lys539Gln) c.*1370A>C (n.*1370A>C) c.586A>C c.4A>C (p.Lys2Gln) c.1225A>C (p.Lys409Gln) | |
| 7 | g.129210511A>G | CA369247160 | SMO | c.1615A>G (p.Lys539Glu) c.*1370A>G (n.*1370A>G) c.586A>G c.4A>G (p.Lys2Glu) c.1225A>G (p.Lys409Glu) | dbSNP gnomAD v4 |
| 7 | g.129210511A>T | CA369247162 | SMO | c.1615A>T (p.Lys539Ter) c.*1370A>T (n.*1370A>T) c.586A>T c.4A>T (p.Lys2Ter) c.1225A>T (p.Lys409Ter) | |
| 7 | g.129210512A>C | CA369247164 | SMO | c.1616A>C (p.Lys539Thr) c.*1371A>C (n.*1371A>C) c.587A>C c.5A>C (p.Lys2Thr) c.1226A>C (p.Lys409Thr) | |
| 7 | g.129210512A>G | CA369247166 | SMO | c.1616A>G (p.Lys539Arg) c.*1371A>G (n.*1371A>G) c.587A>G c.5A>G (p.Lys2Arg) c.1226A>G (p.Lys409Arg) | |
| 7 | g.129210512A>T | CA369247167 | SMO | c.1616A>T (p.Lys539Met) c.*1371A>T (n.*1371A>T) c.587A>T c.5A>T (p.Lys2Met) c.1226A>T (p.Lys409Met) | dbSNP |
| 7 | g.129210513G>A | CA457628277 | SMO | c.1617G>A (p.Lys539=) c.*1372G>A (n.*1372G>A) c.588G>A c.6G>A (p.Lys2=) c.1227G>A (p.Lys409=) | dbSNP gnomAD v4 COSMIC |
| 7 | g.129210513G>C | CA369247172 | SMO | c.1617G>C (p.Lys539Asn) c.*1372G>C (n.*1372G>C) c.588G>C c.6G>C (p.Lys2Asn) c.1227G>C (p.Lys409Asn) | dbSNP |
| 7 | g.129210513G>T | CA369247171 | SMO | c.1617G>T (p.Lys539Asn) c.*1372G>T (n.*1372G>T) c.588G>T c.6G>T (p.Lys2Asn) c.1227G>T (p.Lys409Asn) | dbSNP |
| 7 | g.129210514G>A | CA369247174 | SMO | c.1618G>A (p.Ala540Thr) c.*1373G>A (n.*1373G>A) c.589G>A c.7G>A (p.Ala3Thr) c.1228G>A (p.Ala410Thr) |