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.74180092A= | CA2187549690 | STRA6 | c.1992T= (p.Gly664=) c.1968T= (p.Gly656=) c.1965T= (p.Gly655=) c.2103T= (p.Gly701=) n.1701T= c.2109T= (p.Gly703=) c.2037T= (p.Gly679=) n.2264T= c.1803T= (p.Gly601=) c.2040T= (p.Gly680=) | |
| 15 | g.74180092A>C | CA491170269 | STRA6 | c.1992T>G (p.Gly664=) c.1968T>G (p.Gly656=) c.1965T>G (p.Gly655=) c.2103T>G (p.Gly701=) n.1701T>G c.2109T>G (p.Gly703=) c.2037T>G (p.Gly679=) n.2264T>G c.1803T>G (p.Gly601=) c.2040T>G (p.Gly680=) | |
| 15 | g.74180092A>G | CA7654372 | STRA6 | c.1992T>C (p.Gly664=) c.1968T>C (p.Gly656=) c.1965T>C (p.Gly655=) c.2103T>C (p.Gly701=) n.1701T>C c.2109T>C (p.Gly703=) c.2037T>C (p.Gly679=) n.2264T>C c.1803T>C (p.Gly601=) c.2040T>C (p.Gly680=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180092A>T | CA491170270 | STRA6 | c.1992T>A (p.Gly664=) c.1968T>A (p.Gly656=) c.1965T>A (p.Gly655=) c.2103T>A (p.Gly701=) n.1701T>A c.2109T>A (p.Gly703=) c.2037T>A (p.Gly679=) n.2264T>A c.1803T>A (p.Gly601=) c.2040T>A (p.Gly680=) | |
| 15 | g.74180093C>A | CA393128163 | STRA6 | c.1991G>T (p.Gly664Val) c.1967G>T (p.Gly656Val) c.1964G>T (p.Gly655Val) c.2102G>T (p.Gly701Val) n.1700G>T c.2108G>T (p.Gly703Val) c.2036G>T (p.Gly679Val) n.2263G>T c.1802G>T (p.Gly601Val) c.2039G>T (p.Gly680Val) | |
| 15 | g.74180093C>G | CA393128164 | STRA6 | c.1991G>C (p.Gly664Ala) c.1967G>C (p.Gly656Ala) c.1964G>C (p.Gly655Ala) c.2102G>C (p.Gly701Ala) n.1700G>C c.2108G>C (p.Gly703Ala) c.2036G>C (p.Gly679Ala) n.2263G>C c.1802G>C (p.Gly601Ala) c.2039G>C (p.Gly680Ala) | |
| 15 | g.74180093C>T | CA393128165 | STRA6 | c.1991G>A (p.Gly664Asp) c.1967G>A (p.Gly656Asp) c.1964G>A (p.Gly655Asp) c.2102G>A (p.Gly701Asp) n.1700G>A c.2108G>A (p.Gly703Asp) c.2036G>A (p.Gly679Asp) n.2263G>A c.1802G>A (p.Gly601Asp) c.2039G>A (p.Gly680Asp) | |
| 15 | g.74180094C>A | CA7654373 | STRA6 | c.1990G>T (p.Gly664Cys) c.1966G>T (p.Gly656Cys) c.1963G>T (p.Gly655Cys) c.2101G>T (p.Gly701Cys) n.1699G>T c.2107G>T (p.Gly703Cys) c.2035G>T (p.Gly679Cys) n.2262G>T c.1801G>T (p.Gly601Cys) c.2038G>T (p.Gly680Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180094C= | CA2187549691 | STRA6 | c.1990G= (p.Gly664=) c.1966G= (p.Gly656=) c.1963G= (p.Gly655=) c.2101G= (p.Gly701=) n.1699G= c.2107G= (p.Gly703=) c.2035G= (p.Gly679=) n.2262G= c.1801G= (p.Gly601=) c.2038G= (p.Gly680=) | |
| 15 | g.74180094C>G | CA393128166 | STRA6 | c.1990G>C (p.Gly664Arg) c.1966G>C (p.Gly656Arg) c.1963G>C (p.Gly655Arg) c.2101G>C (p.Gly701Arg) n.1699G>C c.2107G>C (p.Gly703Arg) c.2035G>C (p.Gly679Arg) n.2262G>C c.1801G>C (p.Gly601Arg) c.2038G>C (p.Gly680Arg) | |
| 15 | g.74180094C>T | CA393128167 | STRA6 | c.1990G>A (p.Gly664Ser) c.1966G>A (p.Gly656Ser) c.1963G>A (p.Gly655Ser) c.2101G>A (p.Gly701Ser) n.1699G>A c.2107G>A (p.Gly703Ser) c.2035G>A (p.Gly679Ser) n.2262G>A c.1801G>A (p.Gly601Ser) c.2038G>A (p.Gly680Ser) | |
| 15 | g.74180095A>C | CA393128168 | STRA6 | c.1989T>G (p.Asn663Lys) c.1965T>G (p.Asn655Lys) c.1962T>G (p.Asn654Lys) c.2100T>G (p.Asn700Lys) n.1698T>G c.2106T>G (p.Asn702Lys) c.2034T>G (p.Asn678Lys) n.2261T>G c.1800T>G (p.Asn600Lys) c.2037T>G (p.Asn679Lys) | |
| 15 | g.74180095A>G | CA491170271 | STRA6 | c.1989T>C (p.Asn663=) c.1965T>C (p.Asn655=) c.1962T>C (p.Asn654=) c.2100T>C (p.Asn700=) n.1698T>C c.2106T>C (p.Asn702=) c.2034T>C (p.Asn678=) n.2261T>C c.1800T>C (p.Asn600=) c.2037T>C (p.Asn679=) | gnomAD v4 |
| 15 | g.74180095A>T | CA393128169 | STRA6 | c.1989T>A (p.Asn663Lys) c.1965T>A (p.Asn655Lys) c.1962T>A (p.Asn654Lys) c.2100T>A (p.Asn700Lys) n.1698T>A c.2106T>A (p.Asn702Lys) c.2034T>A (p.Asn678Lys) n.2261T>A c.1800T>A (p.Asn600Lys) c.2037T>A (p.Asn679Lys) | |
| 15 | g.74180096T>A | CA393128170 | STRA6 | c.1988A>T (p.Asn663Ile) c.1964A>T (p.Asn655Ile) c.1961A>T (p.Asn654Ile) c.2099A>T (p.Asn700Ile) n.1697A>T c.2105A>T (p.Asn702Ile) c.2033A>T (p.Asn678Ile) n.2260A>T c.1799A>T (p.Asn600Ile) c.2036A>T (p.Asn679Ile) | |
| 15 | g.74180096T>C | CA7654374 | STRA6 | c.1988A>G (p.Asn663Ser) c.1964A>G (p.Asn655Ser) c.1961A>G (p.Asn654Ser) c.2099A>G (p.Asn700Ser) n.1697A>G c.2105A>G (p.Asn702Ser) c.2033A>G (p.Asn678Ser) n.2260A>G c.1799A>G (p.Asn600Ser) c.2036A>G (p.Asn679Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180096T>G | CA393128171 | STRA6 | c.1988A>C (p.Asn663Thr) c.1964A>C (p.Asn655Thr) c.1961A>C (p.Asn654Thr) c.2099A>C (p.Asn700Thr) n.1697A>C c.2105A>C (p.Asn702Thr) c.2033A>C (p.Asn678Thr) n.2260A>C c.1799A>C (p.Asn600Thr) c.2036A>C (p.Asn679Thr) | |
| 15 | g.74180096T= | CA2187549692 | STRA6 | c.1988A= (p.Asn663=) c.1964A= (p.Asn655=) c.1961A= (p.Asn654=) c.2099A= (p.Asn700=) n.1697A= c.2105A= (p.Asn702=) c.2033A= (p.Asn678=) n.2260A= c.1799A= (p.Asn600=) c.2036A= (p.Asn679=) | |
| 15 | g.74180097T>A | CA393128172 | STRA6 | c.1987A>T (p.Asn663Tyr) c.1963A>T (p.Asn655Tyr) c.1960A>T (p.Asn654Tyr) c.2098A>T (p.Asn700Tyr) n.1696A>T c.2104A>T (p.Asn702Tyr) c.2032A>T (p.Asn678Tyr) n.2259A>T c.1798A>T (p.Asn600Tyr) c.2035A>T (p.Asn679Tyr) | |
| 15 | g.74180097T>C | CA393128173 | STRA6 | c.1987A>G (p.Asn663Asp) c.1963A>G (p.Asn655Asp) c.1960A>G (p.Asn654Asp) c.2098A>G (p.Asn700Asp) n.1696A>G c.2104A>G (p.Asn702Asp) c.2032A>G (p.Asn678Asp) n.2259A>G c.1798A>G (p.Asn600Asp) c.2035A>G (p.Asn679Asp) | |
| 15 | g.74180097T>G | CA393128174 | STRA6 | c.1987A>C (p.Asn663His) c.1963A>C (p.Asn655His) c.1960A>C (p.Asn654His) c.2098A>C (p.Asn700His) n.1696A>C c.2104A>C (p.Asn702His) c.2032A>C (p.Asn678His) n.2259A>C c.1798A>C (p.Asn600His) c.2035A>C (p.Asn679His) | |
| 15 | g.74180098G>A | CA491170272 | STRA6 | c.1986C>T (p.Ala662=) c.1962C>T (p.Ala654=) c.1959C>T (p.Ala653=) c.2097C>T (p.Ala699=) n.1695C>T c.2103C>T (p.Ala701=) c.2031C>T (p.Ala677=) n.2258C>T c.1797C>T (p.Ala599=) c.2034C>T (p.Ala678=) | |
| 15 | g.74180098G>C | CA491170273 | STRA6 | c.1986C>G (p.Ala662=) c.1962C>G (p.Ala654=) c.1959C>G (p.Ala653=) c.2097C>G (p.Ala699=) n.1695C>G c.2103C>G (p.Ala701=) c.2031C>G (p.Ala677=) n.2258C>G c.1797C>G (p.Ala599=) c.2034C>G (p.Ala678=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74180098G= | CA2187549693 | STRA6 | c.1986C= (p.Ala662=) c.1962C= (p.Ala654=) c.1959C= (p.Ala653=) c.2097C= (p.Ala699=) n.1695C= c.2103C= (p.Ala701=) c.2031C= (p.Ala677=) n.2258C= c.1797C= (p.Ala599=) c.2034C= (p.Ala678=) | |
| 15 | g.74180098G>T | CA491170274 | STRA6 | c.1986C>A (p.Ala662=) c.1962C>A (p.Ala654=) c.1959C>A (p.Ala653=) c.2097C>A (p.Ala699=) n.1695C>A c.2103C>A (p.Ala701=) c.2031C>A (p.Ala677=) n.2258C>A c.1797C>A (p.Ala599=) c.2034C>A (p.Ala678=) | |
| 15 | g.74180099del | CA2629451073 | STRA6 | c.1986del (p.Asn663MetfsTer?) c.1962del (p.Asn655MetfsTer?) c.1959del (p.Asn654MetfsTer?) c.2097del (p.Asn700MetfsTer?) n.1695del c.2103del (p.Asn702MetfsTer?) c.2031del (p.Asn678MetfsTer?) n.2258del c.1797del (p.Asn600MetfsTer?) c.2034del (p.Asn679MetfsTer?) | gnomAD v4 |
| 15 | g.74180099G>A | CA393128175 | STRA6 | c.1985C>T (p.Ala662Val) c.1961C>T (p.Ala654Val) c.1958C>T (p.Ala653Val) c.2096C>T (p.Ala699Val) n.1694C>T c.2102C>T (p.Ala701Val) c.2030C>T (p.Ala677Val) n.2257C>T c.1796C>T (p.Ala599Val) c.2033C>T (p.Ala678Val) | |
| 15 | g.74180099G>C | CA393128176 | STRA6 | c.1985C>G (p.Ala662Gly) c.1961C>G (p.Ala654Gly) c.1958C>G (p.Ala653Gly) c.2096C>G (p.Ala699Gly) n.1694C>G c.2102C>G (p.Ala701Gly) c.2030C>G (p.Ala677Gly) n.2257C>G c.1796C>G (p.Ala599Gly) c.2033C>G (p.Ala678Gly) | |
| 15 | g.74180099G= | CA2187549694 | STRA6 | c.1985C= (p.Ala662=) c.1961C= (p.Ala654=) c.1958C= (p.Ala653=) c.2096C= (p.Ala699=) n.1694C= c.2102C= (p.Ala701=) c.2030C= (p.Ala677=) n.2257C= c.1796C= (p.Ala599=) c.2033C= (p.Ala678=) | |
| 15 | g.74180099G>T | CA393128177 | STRA6 | c.1985C>A (p.Ala662Asp) c.1961C>A (p.Ala654Asp) c.1958C>A (p.Ala653Asp) c.2096C>A (p.Ala699Asp) n.1694C>A c.2102C>A (p.Ala701Asp) c.2030C>A (p.Ala677Asp) n.2257C>A c.1796C>A (p.Ala599Asp) c.2033C>A (p.Ala678Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74180100C>A | CA393128178 | STRA6 | c.1984G>T (p.Ala662Ser) c.1960G>T (p.Ala654Ser) c.1957G>T (p.Ala653Ser) c.2095G>T (p.Ala699Ser) n.1693G>T c.2101G>T (p.Ala701Ser) c.2029G>T (p.Ala677Ser) n.2256G>T c.1795G>T (p.Ala599Ser) c.2032G>T (p.Ala678Ser) | |
| 15 | g.74180100C>G | CA393128179 | STRA6 | c.1984G>C (p.Ala662Pro) c.1960G>C (p.Ala654Pro) c.1957G>C (p.Ala653Pro) c.2095G>C (p.Ala699Pro) n.1693G>C c.2101G>C (p.Ala701Pro) c.2029G>C (p.Ala677Pro) n.2256G>C c.1795G>C (p.Ala599Pro) c.2032G>C (p.Ala678Pro) | |
| 15 | g.74180100C>T | CA393128180 | STRA6 | c.1984G>A (p.Ala662Thr) c.1960G>A (p.Ala654Thr) c.1957G>A (p.Ala653Thr) c.2095G>A (p.Ala699Thr) n.1693G>A c.2101G>A (p.Ala701Thr) c.2029G>A (p.Ala677Thr) n.2256G>A c.1795G>A (p.Ala599Thr) c.2032G>A (p.Ala678Thr) | |
| 15 | g.74180101A= | CA2187549695 | STRA6 | c.1983T= (p.Gly661=) c.1959T= (p.Gly653=) c.1956T= (p.Gly652=) c.2094T= (p.Gly698=) n.1692T= c.2100T= (p.Gly700=) c.2028T= (p.Gly676=) n.2255T= c.1794T= (p.Gly598=) c.2031T= (p.Gly677=) | |
| 15 | g.74180101A>C | CA491170275 | STRA6 | c.1983T>G (p.Gly661=) c.1959T>G (p.Gly653=) c.1956T>G (p.Gly652=) c.2094T>G (p.Gly698=) n.1692T>G c.2100T>G (p.Gly700=) c.2028T>G (p.Gly676=) n.2255T>G c.1794T>G (p.Gly598=) c.2031T>G (p.Gly677=) | dbSNP |
| 15 | g.74180101A>G | CA491170276 | STRA6 | c.1983T>C (p.Gly661=) c.1959T>C (p.Gly653=) c.1956T>C (p.Gly652=) c.2094T>C (p.Gly698=) n.1692T>C c.2100T>C (p.Gly700=) c.2028T>C (p.Gly676=) n.2255T>C c.1794T>C (p.Gly598=) c.2031T>C (p.Gly677=) | |
| 15 | g.74180101A>T | CA491170277 | STRA6 | c.1983T>A (p.Gly661=) c.1959T>A (p.Gly653=) c.1956T>A (p.Gly652=) c.2094T>A (p.Gly698=) n.1692T>A c.2100T>A (p.Gly700=) c.2028T>A (p.Gly676=) n.2255T>A c.1794T>A (p.Gly598=) c.2031T>A (p.Gly677=) | |
| 15 | g.74180102C>A | CA393128181 | STRA6 | c.1982G>T (p.Gly661Val) c.1958G>T (p.Gly653Val) c.1955G>T (p.Gly652Val) c.2093G>T (p.Gly698Val) n.1691G>T c.2099G>T (p.Gly700Val) c.2027G>T (p.Gly676Val) n.2254G>T c.1793G>T (p.Gly598Val) c.2030G>T (p.Gly677Val) | dbSNP |
| 15 | g.74180102C= | CA2187549696 | STRA6 | c.1982G= (p.Gly661=) c.1958G= (p.Gly653=) c.1955G= (p.Gly652=) c.2093G= (p.Gly698=) n.1691G= c.2099G= (p.Gly700=) c.2027G= (p.Gly676=) n.2254G= c.1793G= (p.Gly598=) c.2030G= (p.Gly677=) | |
| 15 | g.74180102C>G | CA393128182 | STRA6 | c.1982G>C (p.Gly661Ala) c.1958G>C (p.Gly653Ala) c.1955G>C (p.Gly652Ala) c.2093G>C (p.Gly698Ala) n.1691G>C c.2099G>C (p.Gly700Ala) c.2027G>C (p.Gly676Ala) n.2254G>C c.1793G>C (p.Gly598Ala) c.2030G>C (p.Gly677Ala) | |
| 15 | g.74180102C>T | CA7654375 | STRA6 | c.1982G>A (p.Gly661Asp) c.1958G>A (p.Gly653Asp) c.1955G>A (p.Gly652Asp) c.2093G>A (p.Gly698Asp) n.1691G>A c.2099G>A (p.Gly700Asp) c.2027G>A (p.Gly676Asp) n.2254G>A c.1793G>A (p.Gly598Asp) c.2030G>A (p.Gly677Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74180103C>A | CA393128183 | STRA6 | c.1981G>T (p.Gly661Cys) c.1957G>T (p.Gly653Cys) c.1954G>T (p.Gly652Cys) c.2092G>T (p.Gly698Cys) n.1690G>T c.2098G>T (p.Gly700Cys) c.2026G>T (p.Gly676Cys) n.2253G>T c.1792G>T (p.Gly598Cys) c.2029G>T (p.Gly677Cys) | |
| 15 | g.74180103C>G | CA393128184 | STRA6 | c.1981G>C (p.Gly661Arg) c.1957G>C (p.Gly653Arg) c.1954G>C (p.Gly652Arg) c.2092G>C (p.Gly698Arg) n.1690G>C c.2098G>C (p.Gly700Arg) c.2026G>C (p.Gly676Arg) n.2253G>C c.1792G>C (p.Gly598Arg) c.2029G>C (p.Gly677Arg) | |
| 15 | g.74180103C>T | CA393128185 | STRA6 | c.1981G>A (p.Gly661Ser) c.1957G>A (p.Gly653Ser) c.1954G>A (p.Gly652Ser) c.2092G>A (p.Gly698Ser) n.1690G>A c.2098G>A (p.Gly700Ser) c.2026G>A (p.Gly676Ser) n.2253G>A c.1792G>A (p.Gly598Ser) c.2029G>A (p.Gly677Ser) | |
| 15 | g.74180104C>A | CA393128186 | STRA6 | c.1980G>T (p.Leu660Phe) c.1956G>T (p.Leu652Phe) c.1953G>T (p.Leu651Phe) c.2091G>T (p.Leu697Phe) n.1689G>T c.2097G>T (p.Leu699Phe) c.2025G>T (p.Leu675Phe) n.2252G>T c.1791G>T (p.Leu597Phe) c.2028G>T (p.Leu676Phe) | COSMIC |
| 15 | g.74180104C>G | CA393128187 | STRA6 | c.1980G>C (p.Leu660Phe) c.1956G>C (p.Leu652Phe) c.1953G>C (p.Leu651Phe) c.2091G>C (p.Leu697Phe) n.1689G>C c.2097G>C (p.Leu699Phe) c.2025G>C (p.Leu675Phe) n.2252G>C c.1791G>C (p.Leu597Phe) c.2028G>C (p.Leu676Phe) | gnomAD v4 |
| 15 | g.74180104C>T | CA491170278 | STRA6 | c.1980G>A (p.Leu660=) c.1956G>A (p.Leu652=) c.1953G>A (p.Leu651=) c.2091G>A (p.Leu697=) n.1689G>A c.2097G>A (p.Leu699=) c.2025G>A (p.Leu675=) n.2252G>A c.1791G>A (p.Leu597=) c.2028G>A (p.Leu676=) | |
| 15 | g.74180105A>C | CA393128188 | STRA6 | c.1979T>G (p.Leu660Trp) c.1955T>G (p.Leu652Trp) c.1952T>G (p.Leu651Trp) c.2090T>G (p.Leu697Trp) n.1688T>G c.2096T>G (p.Leu699Trp) c.2024T>G (p.Leu675Trp) n.2251T>G c.1790T>G (p.Leu597Trp) c.2027T>G (p.Leu676Trp) | |
| 15 | g.74180105A>G | CA393128189 | STRA6 | c.1979T>C (p.Leu660Ser) c.1955T>C (p.Leu652Ser) c.1952T>C (p.Leu651Ser) c.2090T>C (p.Leu697Ser) n.1688T>C c.2096T>C (p.Leu699Ser) c.2024T>C (p.Leu675Ser) n.2251T>C c.1790T>C (p.Leu597Ser) c.2027T>C (p.Leu676Ser) | |
| 15 | g.74180105A>T | CA393128190 | STRA6 | c.1979T>A (p.Leu660Ter) c.1955T>A (p.Leu652Ter) c.1952T>A (p.Leu651Ter) c.2090T>A (p.Leu697Ter) n.1688T>A c.2096T>A (p.Leu699Ter) c.2024T>A (p.Leu675Ter) n.2251T>A c.1790T>A (p.Leu597Ter) c.2027T>A (p.Leu676Ter) |