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.74180081C>A | CA393128141 | STRA6 | c.2003G>T (p.Ter668Leu) c.1979G>T (p.Ter660Leu) c.1976G>T (p.Ter659Leu) c.2114G>T (p.Ter705Leu) n.1712G>T c.2120G>T (p.Ter707Leu) c.2048G>T (p.Ter683Leu) n.2275G>T c.1814G>T (p.Ter605Leu) c.2051G>T (p.Ter684Leu) | gnomAD v4 |
| 15 | g.74180081C>G | CA393128142 | STRA6 | c.2003G>C (p.Ter668Ser) c.1979G>C (p.Ter660Ser) c.1976G>C (p.Ter659Ser) c.2114G>C (p.Ter705Ser) n.1712G>C c.2120G>C (p.Ter707Ser) c.2048G>C (p.Ter683Ser) n.2275G>C c.1814G>C (p.Ter605Ser) c.2051G>C (p.Ter684Ser) | |
| 15 | g.74180081C>T | CA491170258 | STRA6 | c.2003G>A (p.Ter668=) c.1979G>A (p.Ter660=) c.1976G>A (p.Ter659=) c.2114G>A (p.Ter705=) n.1712G>A c.2120G>A (p.Ter707=) c.2048G>A (p.Ter683=) n.2275G>A c.1814G>A (p.Ter605=) c.2051G>A (p.Ter684=) | |
| 15 | g.74180082A>C | CA393128145 | STRA6 | c.2002T>G (p.Ter668Gly) c.1978T>G (p.Ter660Gly) c.1975T>G (p.Ter659Gly) c.2113T>G (p.Ter705Gly) n.1711T>G c.2119T>G (p.Ter707Gly) c.2047T>G (p.Ter683Gly) n.2274T>G c.1813T>G (p.Ter605Gly) c.2050T>G (p.Ter684Gly) | |
| 15 | g.74180082A>G | CA393128143 | STRA6 | c.2002T>C (p.Ter668Arg) c.1978T>C (p.Ter660Arg) c.1975T>C (p.Ter659Arg) c.2113T>C (p.Ter705Arg) n.1711T>C c.2119T>C (p.Ter707Arg) c.2047T>C (p.Ter683Arg) n.2274T>C c.1813T>C (p.Ter605Arg) c.2050T>C (p.Ter684Arg) | |
| 15 | g.74180082A>T | CA393128144 | STRA6 | c.2002T>A (p.Ter668Arg) c.1978T>A (p.Ter660Arg) c.1975T>A (p.Ter659Arg) c.2113T>A (p.Ter705Arg) n.1711T>A c.2119T>A (p.Ter707Arg) c.2047T>A (p.Ter683Arg) n.2274T>A c.1813T>A (p.Ter605Arg) c.2050T>A (p.Ter684Arg) | |
| 15 | g.74180083G>A | CA7654368 | STRA6 | c.2001C>T (p.Pro667=) c.1977C>T (p.Pro659=) c.1974C>T (p.Pro658=) c.2112C>T (p.Pro704=) n.1710C>T c.2118C>T (p.Pro706=) c.2046C>T (p.Pro682=) n.2273C>T c.1812C>T (p.Pro604=) c.2049C>T (p.Pro683=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180083G>C | CA491170261 | STRA6 | c.2001C>G (p.Pro667=) c.1977C>G (p.Pro659=) c.1974C>G (p.Pro658=) c.2112C>G (p.Pro704=) n.1710C>G c.2118C>G (p.Pro706=) c.2046C>G (p.Pro682=) n.2273C>G c.1812C>G (p.Pro604=) c.2049C>G (p.Pro683=) | |
| 15 | g.74180083G= | CA2187549684 | STRA6 | c.2001C= (p.Pro667=) c.1977C= (p.Pro659=) c.1974C= (p.Pro658=) c.2112C= (p.Pro704=) n.1710C= c.2118C= (p.Pro706=) c.2046C= (p.Pro682=) n.2273C= c.1812C= (p.Pro604=) c.2049C= (p.Pro683=) | |
| 15 | g.74180083G>T | CA491170262 | STRA6 | c.2001C>A (p.Pro667=) c.1977C>A (p.Pro659=) c.1974C>A (p.Pro658=) c.2112C>A (p.Pro704=) n.1710C>A c.2118C>A (p.Pro706=) c.2046C>A (p.Pro682=) n.2273C>A c.1812C>A (p.Pro604=) c.2049C>A (p.Pro683=) | |
| 15 | g.74180084G>A | CA393128146 | STRA6 | c.2000C>T (p.Pro667Leu) c.1976C>T (p.Pro659Leu) c.1973C>T (p.Pro658Leu) c.2111C>T (p.Pro704Leu) n.1709C>T c.2117C>T (p.Pro706Leu) c.2045C>T (p.Pro682Leu) n.2272C>T c.1811C>T (p.Pro604Leu) c.2048C>T (p.Pro683Leu) | |
| 15 | g.74180084G>C | CA393128147 | STRA6 | c.2000C>G (p.Pro667Arg) c.1976C>G (p.Pro659Arg) c.1973C>G (p.Pro658Arg) c.2111C>G (p.Pro704Arg) n.1709C>G c.2117C>G (p.Pro706Arg) c.2045C>G (p.Pro682Arg) n.2272C>G c.1811C>G (p.Pro604Arg) c.2048C>G (p.Pro683Arg) | |
| 15 | g.74180084G>T | CA393128148 | STRA6 | c.2000C>A (p.Pro667His) c.1976C>A (p.Pro659His) c.1973C>A (p.Pro658His) c.2111C>A (p.Pro704His) n.1709C>A c.2117C>A (p.Pro706His) c.2045C>A (p.Pro682His) n.2272C>A c.1811C>A (p.Pro604His) c.2048C>A (p.Pro683His) | |
| 15 | g.74180085G>A | CA272746075 | STRA6 | c.1999C>T (p.Pro667Ser) c.1975C>T (p.Pro659Ser) c.1972C>T (p.Pro658Ser) c.2110C>T (p.Pro704Ser) n.1708C>T c.2116C>T (p.Pro706Ser) c.2044C>T (p.Pro682Ser) n.2271C>T c.1810C>T (p.Pro604Ser) c.2047C>T (p.Pro683Ser) | dbSNP |
| 15 | g.74180085G>C | CA393128149 | STRA6 | c.1999C>G (p.Pro667Ala) c.1975C>G (p.Pro659Ala) c.1972C>G (p.Pro658Ala) c.2110C>G (p.Pro704Ala) n.1708C>G c.2116C>G (p.Pro706Ala) c.2044C>G (p.Pro682Ala) n.2271C>G c.1810C>G (p.Pro604Ala) c.2047C>G (p.Pro683Ala) | |
| 15 | g.74180085G= | CA2187549685 | STRA6 | c.1999C= (p.Pro667=) c.1975C= (p.Pro659=) c.1972C= (p.Pro658=) c.2110C= (p.Pro704=) n.1708C= c.2116C= (p.Pro706=) c.2044C= (p.Pro682=) n.2271C= c.1810C= (p.Pro604=) c.2047C= (p.Pro683=) | |
| 15 | g.74180085G>T | CA393128150 | STRA6 | c.1999C>A (p.Pro667Thr) c.1975C>A (p.Pro659Thr) c.1972C>A (p.Pro658Thr) c.2110C>A (p.Pro704Thr) n.1708C>A c.2116C>A (p.Pro706Thr) c.2044C>A (p.Pro682Thr) n.2271C>A c.1810C>A (p.Pro604Thr) c.2047C>A (p.Pro683Thr) | |
| 15 | g.74180086C>A | CA393128151 | STRA6 | c.1998G>T (p.Gln666His) c.1974G>T (p.Gln658His) c.1971G>T (p.Gln657His) c.2109G>T (p.Gln703His) n.1707G>T c.2115G>T (p.Gln705His) c.2043G>T (p.Gln681His) n.2270G>T c.1809G>T (p.Gln603His) c.2046G>T (p.Gln682His) | |
| 15 | g.74180086C>G | CA393128152 | STRA6 | c.1998G>C (p.Gln666His) c.1974G>C (p.Gln658His) c.1971G>C (p.Gln657His) c.2109G>C (p.Gln703His) n.1707G>C c.2115G>C (p.Gln705His) c.2043G>C (p.Gln681His) n.2270G>C c.1809G>C (p.Gln603His) c.2046G>C (p.Gln682His) | |
| 15 | g.74180086C>T | CA491170263 | STRA6 | c.1998G>A (p.Gln666=) c.1974G>A (p.Gln658=) c.1971G>A (p.Gln657=) c.2109G>A (p.Gln703=) n.1707G>A c.2115G>A (p.Gln705=) c.2043G>A (p.Gln681=) n.2270G>A c.1809G>A (p.Gln603=) c.2046G>A (p.Gln682=) | |
| 15 | g.74180087T>A | CA393128153 | STRA6 | c.1997A>T (p.Gln666Leu) c.1973A>T (p.Gln658Leu) c.1970A>T (p.Gln657Leu) c.2108A>T (p.Gln703Leu) n.1706A>T c.2114A>T (p.Gln705Leu) c.2042A>T (p.Gln681Leu) n.2269A>T c.1808A>T (p.Gln603Leu) c.2045A>T (p.Gln682Leu) | |
| 15 | g.74180087T>C | CA393128154 | STRA6 | c.1997A>G (p.Gln666Arg) c.1973A>G (p.Gln658Arg) c.1970A>G (p.Gln657Arg) c.2108A>G (p.Gln703Arg) n.1706A>G c.2114A>G (p.Gln705Arg) c.2042A>G (p.Gln681Arg) n.2269A>G c.1808A>G (p.Gln603Arg) c.2045A>G (p.Gln682Arg) | |
| 15 | g.74180087T>G | CA393128155 | STRA6 | c.1997A>C (p.Gln666Pro) c.1973A>C (p.Gln658Pro) c.1970A>C (p.Gln657Pro) c.2108A>C (p.Gln703Pro) n.1706A>C c.2114A>C (p.Gln705Pro) c.2042A>C (p.Gln681Pro) n.2269A>C c.1808A>C (p.Gln603Pro) c.2045A>C (p.Gln682Pro) | |
| 15 | g.74180088G>A | CA393128157 | STRA6 | c.1996C>T (p.Gln666Ter) c.1972C>T (p.Gln658Ter) c.1969C>T (p.Gln657Ter) c.2107C>T (p.Gln703Ter) n.1705C>T c.2113C>T (p.Gln705Ter) c.2041C>T (p.Gln681Ter) n.2268C>T c.1807C>T (p.Gln603Ter) c.2044C>T (p.Gln682Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74180088G>C | CA393128158 | STRA6 | c.1996C>G (p.Gln666Glu) c.1972C>G (p.Gln658Glu) c.1969C>G (p.Gln657Glu) c.2107C>G (p.Gln703Glu) n.1705C>G c.2113C>G (p.Gln705Glu) c.2041C>G (p.Gln681Glu) n.2268C>G c.1807C>G (p.Gln603Glu) c.2044C>G (p.Gln682Glu) | |
| 15 | g.74180088G= | CA2187549686 | STRA6 | c.1996C= (p.Gln666=) c.1972C= (p.Gln658=) c.1969C= (p.Gln657=) c.2107C= (p.Gln703=) n.1705C= c.2113C= (p.Gln705=) c.2041C= (p.Gln681=) n.2268C= c.1807C= (p.Gln603=) c.2044C= (p.Gln682=) | |
| 15 | g.74180088G>T | CA393128156 | STRA6 | c.1996C>A (p.Gln666Lys) c.1972C>A (p.Gln658Lys) c.1969C>A (p.Gln657Lys) c.2107C>A (p.Gln703Lys) n.1705C>A c.2113C>A (p.Gln705Lys) c.2041C>A (p.Gln681Lys) n.2268C>A c.1807C>A (p.Gln603Lys) c.2044C>A (p.Gln682Lys) | |
| 15 | g.74180089G>A | CA7654369 | STRA6 | c.1995C>T (p.Ala665=) c.1971C>T (p.Ala657=) c.1968C>T (p.Ala656=) c.2106C>T (p.Ala702=) n.1704C>T c.2112C>T (p.Ala704=) c.2040C>T (p.Ala680=) n.2267C>T c.1806C>T (p.Ala602=) c.2043C>T (p.Ala681=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180089G>C | CA491170266 | STRA6 | c.1995C>G (p.Ala665=) c.1971C>G (p.Ala657=) c.1968C>G (p.Ala656=) c.2106C>G (p.Ala702=) n.1704C>G c.2112C>G (p.Ala704=) c.2040C>G (p.Ala680=) n.2267C>G c.1806C>G (p.Ala602=) c.2043C>G (p.Ala681=) | |
| 15 | g.74180089G= | CA2187549687 | STRA6 | c.1995C= (p.Ala665=) c.1971C= (p.Ala657=) c.1968C= (p.Ala656=) c.2106C= (p.Ala702=) n.1704C= c.2112C= (p.Ala704=) c.2040C= (p.Ala680=) n.2267C= c.1806C= (p.Ala602=) c.2043C= (p.Ala681=) | |
| 15 | g.74180089G>T | CA491170267 | STRA6 | c.1995C>A (p.Ala665=) c.1971C>A (p.Ala657=) c.1968C>A (p.Ala656=) c.2106C>A (p.Ala702=) n.1704C>A c.2112C>A (p.Ala704=) c.2040C>A (p.Ala680=) n.2267C>A c.1806C>A (p.Ala602=) c.2043C>A (p.Ala681=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74180090G>A | CA7654370 | STRA6 | c.1994C>T (p.Ala665Val) c.1970C>T (p.Ala657Val) c.1967C>T (p.Ala656Val) c.2105C>T (p.Ala702Val) n.1703C>T c.2111C>T (p.Ala704Val) c.2039C>T (p.Ala680Val) n.2266C>T c.1805C>T (p.Ala602Val) c.2042C>T (p.Ala681Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180090G>C | CA393128159 | STRA6 | c.1994C>G (p.Ala665Gly) c.1970C>G (p.Ala657Gly) c.1967C>G (p.Ala656Gly) c.2105C>G (p.Ala702Gly) n.1703C>G c.2111C>G (p.Ala704Gly) c.2039C>G (p.Ala680Gly) n.2266C>G c.1805C>G (p.Ala602Gly) c.2042C>G (p.Ala681Gly) | |
| 15 | g.74180090G= | CA2187549688 | STRA6 | c.1994C= (p.Ala665=) c.1970C= (p.Ala657=) c.1967C= (p.Ala656=) c.2105C= (p.Ala702=) n.1703C= c.2111C= (p.Ala704=) c.2039C= (p.Ala680=) n.2266C= c.1805C= (p.Ala602=) c.2042C= (p.Ala681=) | |
| 15 | g.74180090G>T | CA7654371 | STRA6 | c.1994C>A (p.Ala665Asp) c.1970C>A (p.Ala657Asp) c.1967C>A (p.Ala656Asp) c.2105C>A (p.Ala702Asp) n.1703C>A c.2111C>A (p.Ala704Asp) c.2039C>A (p.Ala680Asp) n.2266C>A c.1805C>A (p.Ala602Asp) c.2042C>A (p.Ala681Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74180091C>A | CA393128160 | STRA6 | c.1993G>T (p.Ala665Ser) c.1969G>T (p.Ala657Ser) c.1966G>T (p.Ala656Ser) c.2104G>T (p.Ala702Ser) n.1702G>T c.2110G>T (p.Ala704Ser) c.2038G>T (p.Ala680Ser) n.2265G>T c.1804G>T (p.Ala602Ser) c.2041G>T (p.Ala681Ser) | |
| 15 | g.74180091C= | CA2187549689 | STRA6 | c.1993G= (p.Ala665=) c.1969G= (p.Ala657=) c.1966G= (p.Ala656=) c.2104G= (p.Ala702=) n.1702G= c.2110G= (p.Ala704=) c.2038G= (p.Ala680=) n.2265G= c.1804G= (p.Ala602=) c.2041G= (p.Ala681=) | |
| 15 | g.74180091C>G | CA393128161 | STRA6 | c.1993G>C (p.Ala665Pro) c.1969G>C (p.Ala657Pro) c.1966G>C (p.Ala656Pro) c.2104G>C (p.Ala702Pro) n.1702G>C c.2110G>C (p.Ala704Pro) c.2038G>C (p.Ala680Pro) n.2265G>C c.1804G>C (p.Ala602Pro) c.2041G>C (p.Ala681Pro) | |
| 15 | g.74180091C>T | CA393128162 | STRA6 | c.1993G>A (p.Ala665Thr) c.1969G>A (p.Ala657Thr) c.1966G>A (p.Ala656Thr) c.2104G>A (p.Ala702Thr) n.1702G>A c.2110G>A (p.Ala704Thr) c.2038G>A (p.Ala680Thr) n.2265G>A c.1804G>A (p.Ala602Thr) c.2041G>A (p.Ala681Thr) | dbSNP gnomAD v4 |
| 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) |