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 |
|---|---|---|---|---|---|
| 15 | g.74181359G>A | CA7654505 | STRA6 | c.1620C>T (p.Asn540=) c.1596C>T (p.Asn532=) c.1593C>T (p.Asn531=) c.1731C>T (p.Asn577=) n.1329C>T c.1737C>T (p.Asn579=) c.475C>T c.1665C>T (p.Asn555=) n.1892C>T c.1431C>T (p.Asn477=) c.1668C>T (p.Asn556=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74181359G>C | CA393129400 | STRA6 | c.1620C>G (p.Asn540Lys) c.1596C>G (p.Asn532Lys) c.1593C>G (p.Asn531Lys) c.1731C>G (p.Asn577Lys) n.1329C>G c.1737C>G (p.Asn579Lys) c.475C>G c.1665C>G (p.Asn555Lys) n.1892C>G c.1431C>G (p.Asn477Lys) c.1668C>G (p.Asn556Lys) | |
| 15 | g.74181359G= | CA2187550299 | STRA6 | c.1620C= (p.Asn540=) c.1596C= (p.Asn532=) c.1593C= (p.Asn531=) c.1731C= (p.Asn577=) n.1329C= c.1737C= (p.Asn579=) c.475C= c.1665C= (p.Asn555=) n.1892C= c.1431C= (p.Asn477=) c.1668C= (p.Asn556=) | |
| 15 | g.74181359G>T | CA393129401 | STRA6 | c.1620C>A (p.Asn540Lys) c.1596C>A (p.Asn532Lys) c.1593C>A (p.Asn531Lys) c.1731C>A (p.Asn577Lys) n.1329C>A c.1737C>A (p.Asn579Lys) c.475C>A c.1665C>A (p.Asn555Lys) n.1892C>A c.1431C>A (p.Asn477Lys) c.1668C>A (p.Asn556Lys) | |
| 15 | g.74181360T>A | CA393129404 | STRA6 | c.1619A>T (p.Asn540Ile) c.1595A>T (p.Asn532Ile) c.1592A>T (p.Asn531Ile) c.1730A>T (p.Asn577Ile) n.1328A>T c.1736A>T (p.Asn579Ile) c.474A>T c.1664A>T (p.Asn555Ile) n.1891A>T c.1430A>T (p.Asn477Ile) c.1667A>T (p.Asn556Ile) | |
| 15 | g.74181360T>C | CA393129402 | STRA6 | c.1619A>G (p.Asn540Ser) c.1595A>G (p.Asn532Ser) c.1592A>G (p.Asn531Ser) c.1730A>G (p.Asn577Ser) n.1328A>G c.1736A>G (p.Asn579Ser) c.474A>G c.1664A>G (p.Asn555Ser) n.1891A>G c.1430A>G (p.Asn477Ser) c.1667A>G (p.Asn556Ser) | |
| 15 | g.74181360T>G | CA393129403 | STRA6 | c.1619A>C (p.Asn540Thr) c.1595A>C (p.Asn532Thr) c.1592A>C (p.Asn531Thr) c.1730A>C (p.Asn577Thr) n.1328A>C c.1736A>C (p.Asn579Thr) c.474A>C c.1664A>C (p.Asn555Thr) n.1891A>C c.1430A>C (p.Asn477Thr) c.1667A>C (p.Asn556Thr) | |
| 15 | g.74181361T>A | CA393129405 | STRA6 | c.1618A>T (p.Asn540Tyr) c.1594A>T (p.Asn532Tyr) c.1591A>T (p.Asn531Tyr) c.1729A>T (p.Asn577Tyr) n.1327A>T c.1735A>T (p.Asn579Tyr) c.473A>T c.1663A>T (p.Asn555Tyr) n.1890A>T c.1429A>T (p.Asn477Tyr) c.1666A>T (p.Asn556Tyr) | |
| 15 | g.74181361T>C | CA393129406 | STRA6 | c.1618A>G (p.Asn540Asp) c.1594A>G (p.Asn532Asp) c.1591A>G (p.Asn531Asp) c.1729A>G (p.Asn577Asp) n.1327A>G c.1735A>G (p.Asn579Asp) c.473A>G c.1663A>G (p.Asn555Asp) n.1890A>G c.1429A>G (p.Asn477Asp) c.1666A>G (p.Asn556Asp) | |
| 15 | g.74181361T>G | CA393129407 | STRA6 | c.1618A>C (p.Asn540His) c.1594A>C (p.Asn532His) c.1591A>C (p.Asn531His) c.1729A>C (p.Asn577His) n.1327A>C c.1735A>C (p.Asn579His) c.473A>C c.1663A>C (p.Asn555His) n.1890A>C c.1429A>C (p.Asn477His) c.1666A>C (p.Asn556His) | dbSNP |
| 15 | g.74181361T= | CA2187550300 | STRA6 | c.1618A= (p.Asn540=) c.1594A= (p.Asn532=) c.1591A= (p.Asn531=) c.1729A= (p.Asn577=) n.1327A= c.1735A= (p.Asn579=) c.473A= c.1663A= (p.Asn555=) n.1890A= c.1429A= (p.Asn477=) c.1666A= (p.Asn556=) | |
| 15 | g.74181362G>A | CA491170998 | STRA6 | c.1617C>T (p.Tyr539=) c.1593C>T (p.Tyr531=) c.1590C>T (p.Tyr530=) c.1728C>T (p.Tyr576=) n.1326C>T c.1734C>T (p.Tyr578=) c.472C>T c.1662C>T (p.Tyr554=) n.1889C>T c.1428C>T (p.Tyr476=) c.1665C>T (p.Tyr555=) | |
| 15 | g.74181362G>C | CA393129408 | STRA6 | c.1617C>G (p.Tyr539Ter) c.1593C>G (p.Tyr531Ter) c.1590C>G (p.Tyr530Ter) c.1728C>G (p.Tyr576Ter) n.1326C>G c.1734C>G (p.Tyr578Ter) c.472C>G c.1662C>G (p.Tyr554Ter) n.1889C>G c.1428C>G (p.Tyr476Ter) c.1665C>G (p.Tyr555Ter) | |
| 15 | g.74181362G>T | CA393129409 | STRA6 | c.1617C>A (p.Tyr539Ter) c.1593C>A (p.Tyr531Ter) c.1590C>A (p.Tyr530Ter) c.1728C>A (p.Tyr576Ter) n.1326C>A c.1734C>A (p.Tyr578Ter) c.472C>A c.1662C>A (p.Tyr554Ter) n.1889C>A c.1428C>A (p.Tyr476Ter) c.1665C>A (p.Tyr555Ter) | |
| 15 | g.74181363T>A | CA393129412 | STRA6 | c.1616A>T (p.Tyr539Phe) c.1592A>T (p.Tyr531Phe) c.1589A>T (p.Tyr530Phe) c.1727A>T (p.Tyr576Phe) n.1325A>T c.1733A>T (p.Tyr578Phe) c.471A>T c.1661A>T (p.Tyr554Phe) n.1888A>T c.1427A>T (p.Tyr476Phe) c.1664A>T (p.Tyr555Phe) | |
| 15 | g.74181363T>C | CA393129410 | STRA6 | c.1616A>G (p.Tyr539Cys) c.1592A>G (p.Tyr531Cys) c.1589A>G (p.Tyr530Cys) c.1727A>G (p.Tyr576Cys) n.1325A>G c.1733A>G (p.Tyr578Cys) c.471A>G c.1661A>G (p.Tyr554Cys) n.1888A>G c.1427A>G (p.Tyr476Cys) c.1664A>G (p.Tyr555Cys) | |
| 15 | g.74181363T>G | CA393129411 | STRA6 | c.1616A>C (p.Tyr539Ser) c.1592A>C (p.Tyr531Ser) c.1589A>C (p.Tyr530Ser) c.1727A>C (p.Tyr576Ser) n.1325A>C c.1733A>C (p.Tyr578Ser) c.471A>C c.1661A>C (p.Tyr554Ser) n.1888A>C c.1427A>C (p.Tyr476Ser) c.1664A>C (p.Tyr555Ser) | |
| 15 | g.74181364A>C | CA393129413 | STRA6 | c.1615T>G (p.Tyr539Asp) c.1591T>G (p.Tyr531Asp) c.1588T>G (p.Tyr530Asp) c.1726T>G (p.Tyr576Asp) n.1324T>G c.1732T>G (p.Tyr578Asp) c.470T>G c.1660T>G (p.Tyr554Asp) n.1887T>G c.1426T>G (p.Tyr476Asp) c.1663T>G (p.Tyr555Asp) | |
| 15 | g.74181364A>G | CA393129414 | STRA6 | c.1615T>C (p.Tyr539His) c.1591T>C (p.Tyr531His) c.1588T>C (p.Tyr530His) c.1726T>C (p.Tyr576His) n.1324T>C c.1732T>C (p.Tyr578His) c.470T>C c.1660T>C (p.Tyr554His) n.1887T>C c.1426T>C (p.Tyr476His) c.1663T>C (p.Tyr555His) | |
| 15 | g.74181364A>T | CA393129415 | STRA6 | c.1615T>A (p.Tyr539Asn) c.1591T>A (p.Tyr531Asn) c.1588T>A (p.Tyr530Asn) c.1726T>A (p.Tyr576Asn) n.1324T>A c.1732T>A (p.Tyr578Asn) c.470T>A c.1660T>A (p.Tyr554Asn) n.1887T>A c.1426T>A (p.Tyr476Asn) c.1663T>A (p.Tyr555Asn) | |
| 15 | g.74181365G>A | CA491171009 | STRA6 | c.1614C>T (p.Leu538=) c.1590C>T (p.Leu530=) c.1587C>T (p.Leu529=) c.1725C>T (p.Leu575=) n.1323C>T c.1731C>T (p.Leu577=) c.469C>T c.1659C>T (p.Leu553=) n.1886C>T c.1425C>T (p.Leu475=) c.1662C>T (p.Leu554=) | dbSNP gnomAD v4 |
| 15 | g.74181365G>C | CA491171011 | STRA6 | c.1614C>G (p.Leu538=) c.1590C>G (p.Leu530=) c.1587C>G (p.Leu529=) c.1725C>G (p.Leu575=) n.1323C>G c.1731C>G (p.Leu577=) c.469C>G c.1659C>G (p.Leu553=) n.1886C>G c.1425C>G (p.Leu475=) c.1662C>G (p.Leu554=) | |
| 15 | g.74181365G= | CA2187550301 | STRA6 | c.1614C= (p.Leu538=) c.1590C= (p.Leu530=) c.1587C= (p.Leu529=) c.1725C= (p.Leu575=) n.1323C= c.1731C= (p.Leu577=) c.469C= c.1659C= (p.Leu553=) n.1886C= c.1425C= (p.Leu475=) c.1662C= (p.Leu554=) | |
| 15 | g.74181365G>T | CA491171012 | STRA6 | c.1614C>A (p.Leu538=) c.1590C>A (p.Leu530=) c.1587C>A (p.Leu529=) c.1725C>A (p.Leu575=) n.1323C>A c.1731C>A (p.Leu577=) c.469C>A c.1659C>A (p.Leu553=) n.1886C>A c.1425C>A (p.Leu475=) c.1662C>A (p.Leu554=) | |
| 15 | g.74181366A>C | CA393129416 | STRA6 | c.1613T>G (p.Leu538Arg) c.1589T>G (p.Leu530Arg) c.1586T>G (p.Leu529Arg) c.1724T>G (p.Leu575Arg) n.1322T>G c.1730T>G (p.Leu577Arg) c.468T>G c.1658T>G (p.Leu553Arg) n.1885T>G c.1424T>G (p.Leu475Arg) c.1661T>G (p.Leu554Arg) | |
| 15 | g.74181366A>G | CA393129417 | STRA6 | c.1613T>C (p.Leu538Pro) c.1589T>C (p.Leu530Pro) c.1586T>C (p.Leu529Pro) c.1724T>C (p.Leu575Pro) n.1322T>C c.1730T>C (p.Leu577Pro) c.468T>C c.1658T>C (p.Leu553Pro) n.1885T>C c.1424T>C (p.Leu475Pro) c.1661T>C (p.Leu554Pro) | |
| 15 | g.74181366A>T | CA393129418 | STRA6 | c.1613T>A (p.Leu538His) c.1589T>A (p.Leu530His) c.1586T>A (p.Leu529His) c.1724T>A (p.Leu575His) n.1322T>A c.1730T>A (p.Leu577His) c.468T>A c.1658T>A (p.Leu553His) n.1885T>A c.1424T>A (p.Leu475His) c.1661T>A (p.Leu554His) | |
| 15 | g.74181367G>A | CA7654506 | STRA6 | c.1612C>T (p.Leu538Phe) c.1588C>T (p.Leu530Phe) c.1585C>T (p.Leu529Phe) c.1723C>T (p.Leu575Phe) n.1321C>T c.1729C>T (p.Leu577Phe) c.467C>T c.1657C>T (p.Leu553Phe) n.1884C>T c.1423C>T (p.Leu475Phe) c.1660C>T (p.Leu554Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74181367G>C | CA393129419 | STRA6 | c.1612C>G (p.Leu538Val) c.1588C>G (p.Leu530Val) c.1585C>G (p.Leu529Val) c.1723C>G (p.Leu575Val) n.1321C>G c.1729C>G (p.Leu577Val) c.467C>G c.1657C>G (p.Leu553Val) n.1884C>G c.1423C>G (p.Leu475Val) c.1660C>G (p.Leu554Val) | dbSNP gnomAD v4 |
| 15 | g.74181367G= | CA2187550302 | STRA6 | c.1612C= (p.Leu538=) c.1588C= (p.Leu530=) c.1585C= (p.Leu529=) c.1723C= (p.Leu575=) n.1321C= c.1729C= (p.Leu577=) c.467C= c.1657C= (p.Leu553=) n.1884C= c.1423C= (p.Leu475=) c.1660C= (p.Leu554=) | |
| 15 | g.74181367G>T | CA393129420 | STRA6 | c.1612C>A (p.Leu538Ile) c.1588C>A (p.Leu530Ile) c.1585C>A (p.Leu529Ile) c.1723C>A (p.Leu575Ile) n.1321C>A c.1729C>A (p.Leu577Ile) c.467C>A c.1657C>A (p.Leu553Ile) n.1884C>A c.1423C>A (p.Leu475Ile) c.1660C>A (p.Leu554Ile) | gnomAD v4 |
| 15 | g.74181368G>A | CA491171021 | STRA6 | c.1611C>T (p.Ala537=) c.1587C>T (p.Ala529=) c.1584C>T (p.Ala528=) c.1722C>T (p.Ala574=) n.1320C>T c.1728C>T (p.Ala576=) c.466C>T c.1656C>T (p.Ala552=) n.1883C>T c.1422C>T (p.Ala474=) c.1659C>T (p.Ala553=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74181368G>C | CA491171022 | STRA6 | c.1611C>G (p.Ala537=) c.1587C>G (p.Ala529=) c.1584C>G (p.Ala528=) c.1722C>G (p.Ala574=) n.1320C>G c.1728C>G (p.Ala576=) c.466C>G c.1656C>G (p.Ala552=) n.1883C>G c.1422C>G (p.Ala474=) c.1659C>G (p.Ala553=) | |
| 15 | g.74181368G= | CA2187550303 | STRA6 | c.1611C= (p.Ala537=) c.1587C= (p.Ala529=) c.1584C= (p.Ala528=) c.1722C= (p.Ala574=) n.1320C= c.1728C= (p.Ala576=) c.466C= c.1656C= (p.Ala552=) n.1883C= c.1422C= (p.Ala474=) c.1659C= (p.Ala553=) | |
| 15 | g.74181368G>T | CA491171023 | STRA6 | c.1611C>A (p.Ala537=) c.1587C>A (p.Ala529=) c.1584C>A (p.Ala528=) c.1722C>A (p.Ala574=) n.1320C>A c.1728C>A (p.Ala576=) c.466C>A c.1656C>A (p.Ala552=) n.1883C>A c.1422C>A (p.Ala474=) c.1659C>A (p.Ala553=) | gnomAD v4 |
| 15 | g.74181369G>A | CA393129421 | STRA6 | c.1610C>T (p.Ala537Val) c.1586C>T (p.Ala529Val) c.1583C>T (p.Ala528Val) c.1721C>T (p.Ala574Val) n.1319C>T c.1727C>T (p.Ala576Val) c.465C>T c.1655C>T (p.Ala552Val) n.1882C>T c.1421C>T (p.Ala474Val) c.1658C>T (p.Ala553Val) | gnomAD v4 |
| 15 | g.74181369G>C | CA393129422 | STRA6 | c.1610C>G (p.Ala537Gly) c.1586C>G (p.Ala529Gly) c.1583C>G (p.Ala528Gly) c.1721C>G (p.Ala574Gly) n.1319C>G c.1727C>G (p.Ala576Gly) c.465C>G c.1655C>G (p.Ala552Gly) n.1882C>G c.1421C>G (p.Ala474Gly) c.1658C>G (p.Ala553Gly) | |
| 15 | g.74181369G>T | CA393129423 | STRA6 | c.1610C>A (p.Ala537Asp) c.1586C>A (p.Ala529Asp) c.1583C>A (p.Ala528Asp) c.1721C>A (p.Ala574Asp) n.1319C>A c.1727C>A (p.Ala576Asp) c.465C>A c.1655C>A (p.Ala552Asp) n.1882C>A c.1421C>A (p.Ala474Asp) c.1658C>A (p.Ala553Asp) | |
| 15 | g.74181370C>A | CA393129424 | STRA6 | c.1609G>T (p.Ala537Ser) c.1585G>T (p.Ala529Ser) c.1582G>T (p.Ala528Ser) c.1720G>T (p.Ala574Ser) n.1318G>T c.1726G>T (p.Ala576Ser) c.464G>T c.1654G>T (p.Ala552Ser) n.1881G>T c.1420G>T (p.Ala474Ser) c.1657G>T (p.Ala553Ser) | |
| 15 | g.74181370C>G | CA393129426 | STRA6 | c.1609G>C (p.Ala537Pro) c.1585G>C (p.Ala529Pro) c.1582G>C (p.Ala528Pro) c.1720G>C (p.Ala574Pro) n.1318G>C c.1726G>C (p.Ala576Pro) c.464G>C c.1654G>C (p.Ala552Pro) n.1881G>C c.1420G>C (p.Ala474Pro) c.1657G>C (p.Ala553Pro) | |
| 15 | g.74181370C>T | CA393129425 | STRA6 | c.1609G>A (p.Ala537Thr) c.1585G>A (p.Ala529Thr) c.1582G>A (p.Ala528Thr) c.1720G>A (p.Ala574Thr) n.1318G>A c.1726G>A (p.Ala576Thr) c.464G>A c.1654G>A (p.Ala552Thr) n.1881G>A c.1420G>A (p.Ala474Thr) c.1657G>A (p.Ala553Thr) | |
| 15 | g.74181371A>C | CA491171031 | STRA6 | c.1608T>G (p.Ser536=) c.1584T>G (p.Ser528=) c.1581T>G (p.Ser527=) c.1719T>G (p.Ser573=) n.1317T>G c.1725T>G (p.Ser575=) c.463T>G c.1653T>G (p.Ser551=) n.1880T>G c.1419T>G (p.Ser473=) c.1656T>G (p.Ser552=) | |
| 15 | g.74181371A>G | CA491171033 | STRA6 | c.1608T>C (p.Ser536=) c.1584T>C (p.Ser528=) c.1581T>C (p.Ser527=) c.1719T>C (p.Ser573=) n.1317T>C c.1725T>C (p.Ser575=) c.463T>C c.1653T>C (p.Ser551=) n.1880T>C c.1419T>C (p.Ser473=) c.1656T>C (p.Ser552=) | |
| 15 | g.74181371A>T | CA491171034 | STRA6 | c.1608T>A (p.Ser536=) c.1584T>A (p.Ser528=) c.1581T>A (p.Ser527=) c.1719T>A (p.Ser573=) n.1317T>A c.1725T>A (p.Ser575=) c.463T>A c.1653T>A (p.Ser551=) n.1880T>A c.1419T>A (p.Ser473=) c.1656T>A (p.Ser552=) | |
| 15 | g.74181372G>A | CA393129427 | STRA6 | c.1607C>T (p.Ser536Phe) c.1583C>T (p.Ser528Phe) c.1580C>T (p.Ser527Phe) c.1718C>T (p.Ser573Phe) n.1316C>T c.1724C>T (p.Ser575Phe) c.462C>T c.1652C>T (p.Ser551Phe) n.1879C>T c.1418C>T (p.Ser473Phe) c.1655C>T (p.Ser552Phe) | |
| 15 | g.74181372G>C | CA393129428 | STRA6 | c.1607C>G (p.Ser536Cys) c.1583C>G (p.Ser528Cys) c.1580C>G (p.Ser527Cys) c.1718C>G (p.Ser573Cys) n.1316C>G c.1724C>G (p.Ser575Cys) c.462C>G c.1652C>G (p.Ser551Cys) n.1879C>G c.1418C>G (p.Ser473Cys) c.1655C>G (p.Ser552Cys) | |
| 15 | g.74181372G>T | CA393129429 | STRA6 | c.1607C>A (p.Ser536Tyr) c.1583C>A (p.Ser528Tyr) c.1580C>A (p.Ser527Tyr) c.1718C>A (p.Ser573Tyr) n.1316C>A c.1724C>A (p.Ser575Tyr) c.462C>A c.1652C>A (p.Ser551Tyr) n.1879C>A c.1418C>A (p.Ser473Tyr) c.1655C>A (p.Ser552Tyr) | |
| 15 | g.74181373A>C | CA393129430 | STRA6 | c.1606T>G (p.Ser536Ala) c.1582T>G (p.Ser528Ala) c.1579T>G (p.Ser527Ala) c.1717T>G (p.Ser573Ala) n.1315T>G c.1723T>G (p.Ser575Ala) c.461T>G c.1651T>G (p.Ser551Ala) n.1878T>G c.1417T>G (p.Ser473Ala) c.1654T>G (p.Ser552Ala) | |
| 15 | g.74181373A>G | CA393129431 | STRA6 | c.1606T>C (p.Ser536Pro) c.1582T>C (p.Ser528Pro) c.1579T>C (p.Ser527Pro) c.1717T>C (p.Ser573Pro) n.1315T>C c.1723T>C (p.Ser575Pro) c.461T>C c.1651T>C (p.Ser551Pro) n.1878T>C c.1417T>C (p.Ser473Pro) c.1654T>C (p.Ser552Pro) | |
| 15 | g.74181373A>T | CA393129432 | STRA6 | c.1606T>A (p.Ser536Thr) c.1582T>A (p.Ser528Thr) c.1579T>A (p.Ser527Thr) c.1717T>A (p.Ser573Thr) n.1315T>A c.1723T>A (p.Ser575Thr) c.461T>A c.1651T>A (p.Ser551Thr) n.1878T>A c.1417T>A (p.Ser473Thr) c.1654T>A (p.Ser552Thr) |