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 |
|---|---|---|---|---|---|
| 5 | g.56875200A= | CA1548136435 | MAP3K1 | c.1855A= (p.Thr619=) c.1477A= (p.Thr493=) c.1600A= (p.Thr534=) c.1686+2195A= (n.1686+2195A=) c.1444A= (p.Thr482=) c.1366A= (p.Thr456=) n.1886A= | |
| 5 | g.56875200A>C | CA3272869 | MAP3K1 | c.1855A>C (p.Thr619Pro) c.1477A>C (p.Thr493Pro) c.1600A>C (p.Thr534Pro) c.1686+2195A>C (n.1686+2195A>C) c.1444A>C (p.Thr482Pro) c.1366A>C (p.Thr456Pro) n.1886A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.56875200A>G | CA359781037 | MAP3K1 | c.1855A>G (p.Thr619Ala) c.1477A>G (p.Thr493Ala) c.1600A>G (p.Thr534Ala) c.1686+2195A>G (n.1686+2195A>G) c.1444A>G (p.Thr482Ala) c.1366A>G (p.Thr456Ala) n.1886A>G | |
| 5 | g.56875200A>T | CA359781039 | MAP3K1 | c.1855A>T (p.Thr619Ser) c.1477A>T (p.Thr493Ser) c.1600A>T (p.Thr534Ser) c.1686+2195A>T (n.1686+2195A>T) c.1444A>T (p.Thr482Ser) c.1366A>T (p.Thr456Ser) n.1886A>T | |
| 5 | g.56875201C>A | CA359781041 | MAP3K1 | c.1856C>A (p.Thr619Asn) c.1478C>A (p.Thr493Asn) c.1601C>A (p.Thr534Asn) c.1686+2196C>A (n.1686+2196C>A) c.1445C>A (p.Thr482Asn) c.1367C>A (p.Thr456Asn) n.1887C>A | |
| 5 | g.56875201C>G | CA359781043 | MAP3K1 | c.1856C>G (p.Thr619Ser) c.1478C>G (p.Thr493Ser) c.1601C>G (p.Thr534Ser) c.1686+2196C>G (n.1686+2196C>G) c.1445C>G (p.Thr482Ser) c.1367C>G (p.Thr456Ser) n.1887C>G | |
| 5 | g.56875201C>T | CA359781044 | MAP3K1 | c.1856C>T (p.Thr619Ile) c.1478C>T (p.Thr493Ile) c.1601C>T (p.Thr534Ile) c.1686+2196C>T (n.1686+2196C>T) c.1445C>T (p.Thr482Ile) c.1367C>T (p.Thr456Ile) n.1887C>T | |
| 5 | g.56875203_56875214dup | CA2673909422 | MAP3K1 | c.1858_1869dup (p.Ser623_Gln624insSerGlySerSer) c.1480_1491dup (p.Ser497_Gln498insSerGlySerSer) c.1603_1614dup (p.Ser538_Gln539insSerGlySerSer) c.1686+2198_1686+2209dup (n.1686+2198_1686+2209dup) c.1447_1458dup (p.Ser486_Gln487insSerGlySerSer) c.1369_1380dup (p.Ser460_Gln461insSerGlySerSer) n.1889_1900dup | gnomAD v4 |
| 5 | g.56875202C>A | CA444398781 | MAP3K1 | c.1857C>A (p.Thr619=) c.1479C>A (p.Thr493=) c.1602C>A (p.Thr534=) c.1686+2197C>A (n.1686+2197C>A) c.1446C>A (p.Thr482=) c.1368C>A (p.Thr456=) n.1888C>A | dbSNP |
| 5 | g.56875202C= | CA1548136436 | MAP3K1 | c.1857C= (p.Thr619=) c.1479C= (p.Thr493=) c.1602C= (p.Thr534=) c.1686+2197C= (n.1686+2197C=) c.1446C= (p.Thr482=) c.1368C= (p.Thr456=) n.1888C= | |
| 5 | g.56875202C>G | CA444398783 | MAP3K1 | c.1857C>G (p.Thr619=) c.1479C>G (p.Thr493=) c.1602C>G (p.Thr534=) c.1686+2197C>G (n.1686+2197C>G) c.1446C>G (p.Thr482=) c.1368C>G (p.Thr456=) n.1888C>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.56875202C>T | CA444398784 | MAP3K1 | c.1857C>T (p.Thr619=) c.1479C>T (p.Thr493=) c.1602C>T (p.Thr534=) c.1686+2197C>T (n.1686+2197C>T) c.1446C>T (p.Thr482=) c.1368C>T (p.Thr456=) n.1888C>T | |
| 5 | g.56875203A= | CA1548136437 | MAP3K1 | c.1858A= (p.Ser620=) c.1480A= (p.Ser494=) c.1603A= (p.Ser535=) c.1686+2198A= (n.1686+2198A=) c.1447A= (p.Ser483=) c.1369A= (p.Ser457=) n.1889A= | |
| 5 | g.56875203A>C | CA359781051 | MAP3K1 | c.1858A>C (p.Ser620Arg) c.1480A>C (p.Ser494Arg) c.1603A>C (p.Ser535Arg) c.1686+2198A>C (n.1686+2198A>C) c.1447A>C (p.Ser483Arg) c.1369A>C (p.Ser457Arg) n.1889A>C | |
| 5 | g.56875203A>G | CA359781047 | MAP3K1 | c.1858A>G (p.Ser620Gly) c.1480A>G (p.Ser494Gly) c.1603A>G (p.Ser535Gly) c.1686+2198A>G (n.1686+2198A>G) c.1447A>G (p.Ser483Gly) c.1369A>G (p.Ser457Gly) n.1889A>G | dbSNP |
| 5 | g.56875203A>T | CA359781049 | MAP3K1 | c.1858A>T (p.Ser620Cys) c.1480A>T (p.Ser494Cys) c.1603A>T (p.Ser535Cys) c.1686+2198A>T (n.1686+2198A>T) c.1447A>T (p.Ser483Cys) c.1369A>T (p.Ser457Cys) n.1889A>T | |
| 5 | g.56875204G>A | CA359781054 | MAP3K1 | c.1859G>A (p.Ser620Asn) c.1481G>A (p.Ser494Asn) c.1604G>A (p.Ser535Asn) c.1686+2199G>A (n.1686+2199G>A) c.1448G>A (p.Ser483Asn) c.1370G>A (p.Ser457Asn) n.1890G>A | dbSNP gnomAD v4 |
| 5 | g.56875204G>C | CA359781055 | MAP3K1 | c.1859G>C (p.Ser620Thr) c.1481G>C (p.Ser494Thr) c.1604G>C (p.Ser535Thr) c.1686+2199G>C (n.1686+2199G>C) c.1448G>C (p.Ser483Thr) c.1370G>C (p.Ser457Thr) n.1890G>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.56875204G= | CA1548136438 | MAP3K1 | c.1859G= (p.Ser620=) c.1481G= (p.Ser494=) c.1604G= (p.Ser535=) c.1686+2199G= (n.1686+2199G=) c.1448G= (p.Ser483=) c.1370G= (p.Ser457=) n.1890G= | |
| 5 | g.56875204G>T | CA359781057 | MAP3K1 | c.1859G>T (p.Ser620Ile) c.1481G>T (p.Ser494Ile) c.1604G>T (p.Ser535Ile) c.1686+2199G>T (n.1686+2199G>T) c.1448G>T (p.Ser483Ile) c.1370G>T (p.Ser457Ile) n.1890G>T | |
| 5 | g.56875205T>A | CA359781060 | MAP3K1 | c.1860T>A (p.Ser620Arg) c.1482T>A (p.Ser494Arg) c.1605T>A (p.Ser535Arg) c.1686+2200T>A (n.1686+2200T>A) c.1449T>A (p.Ser483Arg) c.1371T>A (p.Ser457Arg) n.1891T>A | dbSNP |
| 5 | g.56875205T>C | CA444398785 | MAP3K1 | c.1860T>C (p.Ser620=) c.1482T>C (p.Ser494=) c.1605T>C (p.Ser535=) c.1686+2200T>C (n.1686+2200T>C) c.1449T>C (p.Ser483=) c.1371T>C (p.Ser457=) n.1891T>C | |
| 5 | g.56875205T>G | CA359781061 | MAP3K1 | c.1860T>G (p.Ser620Arg) c.1482T>G (p.Ser494Arg) c.1605T>G (p.Ser535Arg) c.1686+2200T>G (n.1686+2200T>G) c.1449T>G (p.Ser483Arg) c.1371T>G (p.Ser457Arg) n.1891T>G | dbSNP |
| 5 | g.56875206G>A | CA359781068 | MAP3K1 | c.1861G>A (p.Gly621Arg) c.1483G>A (p.Gly495Arg) c.1606G>A (p.Gly536Arg) c.1686+2201G>A (n.1686+2201G>A) c.1450G>A (p.Gly484Arg) c.1372G>A (p.Gly458Arg) n.1892G>A | dbSNP |
| 5 | g.56875206G>C | CA359781064 | MAP3K1 | c.1861G>C (p.Gly621Arg) c.1483G>C (p.Gly495Arg) c.1606G>C (p.Gly536Arg) c.1686+2201G>C (n.1686+2201G>C) c.1450G>C (p.Gly484Arg) c.1372G>C (p.Gly458Arg) n.1892G>C | |
| 5 | g.56875206G>T | CA359781066 | MAP3K1 | c.1861G>T (p.Gly621Trp) c.1483G>T (p.Gly495Trp) c.1606G>T (p.Gly536Trp) c.1686+2201G>T (n.1686+2201G>T) c.1450G>T (p.Gly484Trp) c.1372G>T (p.Gly458Trp) n.1892G>T | dbSNP |
| 5 | g.56875207G>A | CA359781071 | MAP3K1 | c.1862G>A (p.Gly621Glu) c.1484G>A (p.Gly495Glu) c.1607G>A (p.Gly536Glu) c.1686+2202G>A (n.1686+2202G>A) c.1451G>A (p.Gly484Glu) c.1373G>A (p.Gly458Glu) n.1893G>A | dbSNP |
| 5 | g.56875207G>C | CA359781073 | MAP3K1 | c.1862G>C (p.Gly621Ala) c.1484G>C (p.Gly495Ala) c.1607G>C (p.Gly536Ala) c.1686+2202G>C (n.1686+2202G>C) c.1451G>C (p.Gly484Ala) c.1373G>C (p.Gly458Ala) n.1893G>C | gnomAD v4 |
| 5 | g.56875207G>T | CA359781075 | MAP3K1 | c.1862G>T (p.Gly621Val) c.1484G>T (p.Gly495Val) c.1607G>T (p.Gly536Val) c.1686+2202G>T (n.1686+2202G>T) c.1451G>T (p.Gly484Val) c.1373G>T (p.Gly458Val) n.1893G>T | |
| 5 | g.56875208G>A | CA444398789 | MAP3K1 | c.1863G>A (p.Gly621=) c.1485G>A (p.Gly495=) c.1608G>A (p.Gly536=) c.1686+2203G>A (n.1686+2203G>A) c.1452G>A (p.Gly484=) c.1374G>A (p.Gly458=) n.1894G>A | dbSNP |
| 5 | g.56875208G>C | CA444398790 | MAP3K1 | c.1863G>C (p.Gly621=) c.1485G>C (p.Gly495=) c.1608G>C (p.Gly536=) c.1686+2203G>C (n.1686+2203G>C) c.1452G>C (p.Gly484=) c.1374G>C (p.Gly458=) n.1894G>C | dbSNP |
| 5 | g.56875208G>T | CA444398791 | MAP3K1 | c.1863G>T (p.Gly621=) c.1485G>T (p.Gly495=) c.1608G>T (p.Gly536=) c.1686+2203G>T (n.1686+2203G>T) c.1452G>T (p.Gly484=) c.1374G>T (p.Gly458=) n.1894G>T | |
| 5 | g.56875209T>A | CA359781077 | MAP3K1 | c.1864T>A (p.Ser622Thr) c.1486T>A (p.Ser496Thr) c.1609T>A (p.Ser537Thr) c.1686+2204T>A (n.1686+2204T>A) c.1453T>A (p.Ser485Thr) c.1375T>A (p.Ser459Thr) n.1895T>A | |
| 5 | g.56875209T>C | CA359781079 | MAP3K1 | c.1864T>C (p.Ser622Pro) c.1486T>C (p.Ser496Pro) c.1609T>C (p.Ser537Pro) c.1686+2204T>C (n.1686+2204T>C) c.1453T>C (p.Ser485Pro) c.1375T>C (p.Ser459Pro) n.1895T>C | |
| 5 | g.56875209T>G | CA359781081 | MAP3K1 | c.1864T>G (p.Ser622Ala) c.1486T>G (p.Ser496Ala) c.1609T>G (p.Ser537Ala) c.1686+2204T>G (n.1686+2204T>G) c.1453T>G (p.Ser485Ala) c.1375T>G (p.Ser459Ala) n.1895T>G | |
| 5 | g.56875209_56875216del | CA645563890 | MAP3K1 | c.1864_1871del (p.Ser622AspfsTer21) c.1486_1493del (p.Ser496AspfsTer21) c.1609_1616del (p.Ser537AspfsTer21) c.1686+2204_1686+2211del (n.1686+2204_1686+2211del) c.1453_1460del (p.Ser485AspfsTer21) c.1375_1382del (p.Ser459AspfsTer21) n.1895_1902del | COSMIC |
| 5 | g.56875210C>A | CA359781083 | MAP3K1 | c.1865C>A (p.Ser622Tyr) c.1487C>A (p.Ser496Tyr) c.1610C>A (p.Ser537Tyr) c.1686+2205C>A (n.1686+2205C>A) c.1454C>A (p.Ser485Tyr) c.1376C>A (p.Ser459Tyr) n.1896C>A | |
| 5 | g.56875210C>G | CA359781085 | MAP3K1 | c.1865C>G (p.Ser622Cys) c.1487C>G (p.Ser496Cys) c.1610C>G (p.Ser537Cys) c.1686+2205C>G (n.1686+2205C>G) c.1454C>G (p.Ser485Cys) c.1376C>G (p.Ser459Cys) n.1896C>G | |
| 5 | g.56875210C>T | CA359781087 | MAP3K1 | c.1865C>T (p.Ser622Phe) c.1487C>T (p.Ser496Phe) c.1610C>T (p.Ser537Phe) c.1686+2205C>T (n.1686+2205C>T) c.1454C>T (p.Ser485Phe) c.1376C>T (p.Ser459Phe) n.1896C>T | dbSNP |
| 5 | g.56875211T>A | CA444398793 | MAP3K1 | c.1866T>A (p.Ser622=) c.1488T>A (p.Ser496=) c.1611T>A (p.Ser537=) c.1686+2206T>A (n.1686+2206T>A) c.1455T>A (p.Ser485=) c.1377T>A (p.Ser459=) n.1897T>A | |
| 5 | g.56875211T>C | CA444398794 | MAP3K1 | c.1866T>C (p.Ser622=) c.1488T>C (p.Ser496=) c.1611T>C (p.Ser537=) c.1686+2206T>C (n.1686+2206T>C) c.1455T>C (p.Ser485=) c.1377T>C (p.Ser459=) n.1897T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.56875211T>G | CA444398795 | MAP3K1 | c.1866T>G (p.Ser622=) c.1488T>G (p.Ser496=) c.1611T>G (p.Ser537=) c.1686+2206T>G (n.1686+2206T>G) c.1455T>G (p.Ser485=) c.1377T>G (p.Ser459=) n.1897T>G | |
| 5 | g.56875211T= | CA1548136439 | MAP3K1 | c.1866T= (p.Ser622=) c.1488T= (p.Ser496=) c.1611T= (p.Ser537=) c.1686+2206T= (n.1686+2206T=) c.1455T= (p.Ser485=) c.1377T= (p.Ser459=) n.1897T= | |
| 5 | g.56875212T>A | CA359781090 | MAP3K1 | c.1867T>A (p.Ser623Thr) c.1489T>A (p.Ser497Thr) c.1612T>A (p.Ser538Thr) c.1686+2207T>A (n.1686+2207T>A) c.1456T>A (p.Ser486Thr) c.1378T>A (p.Ser460Thr) n.1898T>A | |
| 5 | g.56875212T>C | CA359781092 | MAP3K1 | c.1867T>C (p.Ser623Pro) c.1489T>C (p.Ser497Pro) c.1612T>C (p.Ser538Pro) c.1686+2207T>C (n.1686+2207T>C) c.1456T>C (p.Ser486Pro) c.1378T>C (p.Ser460Pro) n.1898T>C | |
| 5 | g.56875212T>G | CA359781094 | MAP3K1 | c.1867T>G (p.Ser623Ala) c.1489T>G (p.Ser497Ala) c.1612T>G (p.Ser538Ala) c.1686+2207T>G (n.1686+2207T>G) c.1456T>G (p.Ser486Ala) c.1378T>G (p.Ser460Ala) n.1898T>G | |
| 5 | g.56875213C>A | CA359781096 | MAP3K1 | c.1868C>A (p.Ser623Tyr) c.1490C>A (p.Ser497Tyr) c.1613C>A (p.Ser538Tyr) c.1686+2208C>A (n.1686+2208C>A) c.1457C>A (p.Ser486Tyr) c.1379C>A (p.Ser460Tyr) n.1899C>A | |
| 5 | g.56875213C= | CA1548136440 | MAP3K1 | c.1868C= (p.Ser623=) c.1490C= (p.Ser497=) c.1613C= (p.Ser538=) c.1686+2208C= (n.1686+2208C=) c.1457C= (p.Ser486=) c.1379C= (p.Ser460=) n.1899C= | |
| 5 | g.56875213C>G | CA359781100 | MAP3K1 | c.1868C>G (p.Ser623Cys) c.1490C>G (p.Ser497Cys) c.1613C>G (p.Ser538Cys) c.1686+2208C>G (n.1686+2208C>G) c.1457C>G (p.Ser486Cys) c.1379C>G (p.Ser460Cys) n.1899C>G | dbSNP |
| 5 | g.56875213C>T | CA359781098 | MAP3K1 | c.1868C>T (p.Ser623Phe) c.1490C>T (p.Ser497Phe) c.1613C>T (p.Ser538Phe) c.1686+2208C>T (n.1686+2208C>T) c.1457C>T (p.Ser486Phe) c.1379C>T (p.Ser460Phe) n.1899C>T | dbSNP gnomAD v2 gnomAD v4 |