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.129210400C>A | CA369246621 | SMO | c.1504C>A (p.Gln502Lys) c.*1259C>A (n.*1259C>A) c.475C>A c.1114C>A (p.Gln372Lys) | gnomAD v4 |
| 7 | g.129210400C>G | CA369246622 | SMO | c.1504C>G (p.Gln502Glu) c.*1259C>G (n.*1259C>G) c.475C>G c.1114C>G (p.Gln372Glu) | dbSNP |
| 7 | g.129210400C>T | CA369246619 | SMO | c.1504C>T (p.Gln502Ter) c.*1259C>T (n.*1259C>T) c.475C>T c.1114C>T (p.Gln372Ter) | dbSNP |
| 7 | g.129210401A>C | CA369246626 | SMO | c.1505A>C (p.Gln502Pro) c.*1260A>C (n.*1260A>C) c.476A>C c.1115A>C (p.Gln372Pro) | |
| 7 | g.129210401A>G | CA369246623 | SMO | c.1505A>G (p.Gln502Arg) c.*1260A>G (n.*1260A>G) c.476A>G c.1115A>G (p.Gln372Arg) | dbSNP |
| 7 | g.129210401A>T | CA369246625 | SMO | c.1505A>T (p.Gln502Leu) c.*1260A>T (n.*1260A>T) c.476A>T c.1115A>T (p.Gln372Leu) | dbSNP |
| 7 | g.129210402G>A | CA4479418 | SMO | c.1506G>A (p.Gln502=) c.*1261G>A (n.*1261G>A) c.477G>A c.1116G>A (p.Gln372=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.129210402G>C | CA369246629 | SMO | c.1506G>C (p.Gln502His) c.*1261G>C (n.*1261G>C) c.477G>C c.1116G>C (p.Gln372His) | |
| 7 | g.129210402G= | CA1742695366 | SMO | c.1506G= (p.Gln502=) c.*1261G= (n.*1261G=) c.477G= c.1116G= (p.Gln372=) | |
| 7 | g.129210402G>T | CA369246630 | SMO | c.1506G>T (p.Gln502His) c.*1261G>T (n.*1261G>T) c.477G>T c.1116G>T (p.Gln372His) | |
| 7 | g.129210403C>A | CA369246634 | SMO | c.1507C>A (p.Pro503Thr) c.*1262C>A (n.*1262C>A) c.478C>A c.1117C>A (p.Pro373Thr) | dbSNP |
| 7 | g.129210403C>G | CA369246632 | SMO | c.1507C>G (p.Pro503Ala) c.*1262C>G (n.*1262C>G) c.478C>G c.1117C>G (p.Pro373Ala) | dbSNP |
| 7 | g.129210403C>T | CA369246631 | SMO | c.1507C>T (p.Pro503Ser) c.*1262C>T (n.*1262C>T) c.478C>T c.1117C>T (p.Pro373Ser) | dbSNP |
| 7 | g.129210404C>A | CA369246636 | SMO | c.1508C>A (p.Pro503His) c.*1263C>A (n.*1263C>A) c.479C>A c.1118C>A (p.Pro373His) | |
| 7 | g.129210404C>G | CA369246638 | SMO | c.1508C>G (p.Pro503Arg) c.*1263C>G (n.*1263C>G) c.479C>G c.1118C>G (p.Pro373Arg) | |
| 7 | g.129210404C>T | CA369246639 | SMO | c.1508C>T (p.Pro503Leu) c.*1263C>T (n.*1263C>T) c.479C>T c.1118C>T (p.Pro373Leu) | |
| 7 | g.129210405C>A | CA457628211 | SMO | c.1509C>A (p.Pro503=) c.*1264C>A (n.*1264C>A) c.480C>A c.1119C>A (p.Pro373=) | dbSNP |
| 7 | g.129210405C>G | CA457628212 | SMO | c.1509C>G (p.Pro503=) c.*1264C>G (n.*1264C>G) c.480C>G c.1119C>G (p.Pro373=) | |
| 7 | g.129210405C>T | CA457628213 | SMO | c.1509C>T (p.Pro503=) c.*1264C>T (n.*1264C>T) c.480C>T c.1119C>T (p.Pro373=) | dbSNP gnomAD v4 |
| 7 | g.129210406A>C | CA369246641 | SMO | c.1510A>C (p.Ile504Leu) c.*1265A>C (n.*1265A>C) c.481A>C c.1120A>C (p.Ile374Leu) | dbSNP |
| 7 | g.129210406A>G | CA369246643 | SMO | c.1510A>G (p.Ile504Val) c.*1265A>G (n.*1265A>G) c.481A>G c.1120A>G (p.Ile374Val) | dbSNP |
| 7 | g.129210406A>T | CA369246644 | SMO | c.1510A>T (p.Ile504Phe) c.*1265A>T (n.*1265A>T) c.481A>T c.1120A>T (p.Ile374Phe) | dbSNP |
| 7 | g.129210407T>A | CA369246646 | SMO | c.1511T>A (p.Ile504Asn) c.*1266T>A (n.*1266T>A) c.482T>A c.1121T>A (p.Ile374Asn) | dbSNP |
| 7 | g.129210407T>C | CA369246650 | SMO | c.1511T>C (p.Ile504Thr) c.*1266T>C (n.*1266T>C) c.482T>C c.1121T>C (p.Ile374Thr) | dbSNP |
| 7 | g.129210407T>G | CA369246648 | SMO | c.1511T>G (p.Ile504Ser) c.*1266T>G (n.*1266T>G) c.482T>G c.1121T>G (p.Ile374Ser) | |
| 7 | g.129210408C>A | CA457628214 | SMO | c.1512C>A (p.Ile504=) c.*1267C>A (n.*1267C>A) c.483C>A c.1122C>A (p.Ile374=) | dbSNP |
| 7 | g.129210408C= | CA1742695372 | SMO | c.1512C= (p.Ile504=) c.*1267C= (n.*1267C=) c.483C= c.1122C= (p.Ile374=) | |
| 7 | g.129210408C>G | CA369246651 | SMO | c.1512C>G (p.Ile504Met) c.*1267C>G (n.*1267C>G) c.483C>G c.1122C>G (p.Ile374Met) | dbSNP |
| 7 | g.129210408C>T | CA457628215 | SMO | c.1512C>T (p.Ile504=) c.*1267C>T (n.*1267C>T) c.483C>T c.1122C>T (p.Ile374=) | dbSNP gnomAD v4 |
| 7 | g.129210409C>A | CA369246653 | SMO | c.1513C>A (p.Pro505Thr) c.*1268C>A (n.*1268C>A) c.484C>A c.1123C>A (p.Pro375Thr) | dbSNP |
| 7 | g.129210409C>G | CA369246655 | SMO | c.1513C>G (p.Pro505Ala) c.*1268C>G (n.*1268C>G) c.484C>G c.1123C>G (p.Pro375Ala) | dbSNP |
| 7 | g.129210409C>T | CA369246657 | SMO | c.1513C>T (p.Pro505Ser) c.*1268C>T (n.*1268C>T) c.484C>T c.1123C>T (p.Pro375Ser) | dbSNP |
| 7 | g.129210410C>A | CA369246658 | SMO | c.1514C>A (p.Pro505His) c.*1269C>A (n.*1269C>A) c.485C>A c.1124C>A (p.Pro375His) | dbSNP |
| 7 | g.129210410C= | CA1742695384 | SMO | c.1514C= (p.Pro505=) c.*1269C= (n.*1269C=) c.485C= c.1124C= (p.Pro375=) | |
| 7 | g.129210410C>G | CA369246660 | SMO | c.1514C>G (p.Pro505Arg) c.*1269C>G (n.*1269C>G) c.485C>G c.1124C>G (p.Pro375Arg) | dbSNP COSMIC |
| 7 | g.129210410C>T | CA369246661 | SMO | c.1514C>T (p.Pro505Leu) c.*1269C>T (n.*1269C>T) c.485C>T c.1124C>T (p.Pro375Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.129210411T>A | CA457628216 | SMO | c.1515T>A (p.Pro505=) c.*1270T>A (n.*1270T>A) c.486T>A c.1125T>A (p.Pro375=) | dbSNP |
| 7 | g.129210411T>C | CA4479419 | SMO | c.1515T>C (p.Pro505=) c.*1270T>C (n.*1270T>C) c.486T>C c.1125T>C (p.Pro375=) | dbSNP ExAC gnomAD v4 |
| 7 | g.129210411T>G | CA457628217 | SMO | c.1515T>G (p.Pro505=) c.*1270T>G (n.*1270T>G) c.486T>G c.1125T>G (p.Pro375=) | |
| 7 | g.129210411T= | CA1742695393 | SMO | c.1515T= (p.Pro505=) c.*1270T= (n.*1270T=) c.486T= c.1125T= (p.Pro375=) | |
| 7 | g.129210412G>A | CA369246664 | SMO | c.1516G>A (p.Asp506Asn) c.*1271G>A (n.*1271G>A) c.487G>A c.1126G>A (p.Asp376Asn) | dbSNP gnomAD v4 COSMIC |
| 7 | g.129210412G>C | CA369246665 | SMO | c.1516G>C (p.Asp506His) c.*1271G>C (n.*1271G>C) c.487G>C c.1126G>C (p.Asp376His) | dbSNP |
| 7 | g.129210412G>T | CA369246667 | SMO | c.1516G>T (p.Asp506Tyr) c.*1271G>T (n.*1271G>T) c.487G>T c.1126G>T (p.Asp376Tyr) | gnomAD v4 |
| 7 | g.129210413A>C | CA369246672 | SMO | c.1517A>C (p.Asp506Ala) c.*1272A>C (n.*1272A>C) c.488A>C c.1127A>C (p.Asp376Ala) | |
| 7 | g.129210413A>G | CA369246670 | SMO | c.1517A>G (p.Asp506Gly) c.*1272A>G (n.*1272A>G) c.488A>G c.1127A>G (p.Asp376Gly) | dbSNP |
| 7 | g.129210413A>T | CA369246669 | SMO | c.1517A>T (p.Asp506Val) c.*1272A>T (n.*1272A>T) c.488A>T c.1127A>T (p.Asp376Val) | dbSNP |
| 7 | g.129210414C>A | CA369246674 | SMO | c.1518C>A (p.Asp506Glu) c.*1273C>A (n.*1273C>A) c.489C>A c.1128C>A (p.Asp376Glu) | |
| 7 | g.129210414C>G | CA369246675 | SMO | c.1518C>G (p.Asp506Glu) c.*1273C>G (n.*1273C>G) c.489C>G c.1128C>G (p.Asp376Glu) | dbSNP |
| 7 | g.129210414C>T | CA457628218 | SMO | c.1518C>T (p.Asp506=) c.*1273C>T (n.*1273C>T) c.489C>T c.1128C>T (p.Asp376=) | dbSNP gnomAD v4 |
| 7 | g.129210415T>A | CA369246676 | SMO | c.1519T>A (p.Cys507Ser) c.*1274T>A (n.*1274T>A) c.490T>A c.1129T>A (p.Cys377Ser) | dbSNP |