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 |
|---|---|---|---|---|---|
| 13 | g.23354909T>A | CA387547119 | SACS | c.1703A>T (p.Asp568Val) n.1841A>T c.1694A>T (p.Asp565Val) n.4060A>T c.-548A>T (n.-548A>T) c.575A>T (p.Asp192Val) c.1401A>T c.1262A>T (p.Asp421Val) c.1727A>T (p.Asp576Val) | |
| 13 | g.23354909T>C | CA387547115 | SACS | c.1703A>G (p.Asp568Gly) n.1841A>G c.1694A>G (p.Asp565Gly) n.4060A>G c.-548A>G (n.-548A>G) c.575A>G (p.Asp192Gly) c.1401A>G c.1262A>G (p.Asp421Gly) c.1727A>G (p.Asp576Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23354909T>G | CA387547117 | SACS | c.1703A>C (p.Asp568Ala) n.1841A>C c.1694A>C (p.Asp565Ala) n.4060A>C c.-548A>C (n.-548A>C) c.575A>C (p.Asp192Ala) c.1401A>C c.1262A>C (p.Asp421Ala) c.1727A>C (p.Asp576Ala) | |
| 13 | g.23354909T= | CA2078657985 | SACS | c.1703A= (p.Asp568=) n.1841A= c.1694A= (p.Asp565=) n.4060A= c.-548A= (n.-548A=) c.575A= (p.Asp192=) c.1401A= c.1262A= (p.Asp421=) c.1727A= (p.Asp576=) | |
| 13 | g.23354910C>A | CA387547121 | SACS | c.1702G>T (p.Asp568Tyr) n.1840G>T c.1693G>T (p.Asp565Tyr) n.4059G>T c.-549G>T (n.-549G>T) c.574G>T (p.Asp192Tyr) c.1400G>T c.1261G>T (p.Asp421Tyr) c.1726G>T (p.Asp576Tyr) | COSMIC COSMIC |
| 13 | g.23354910C= | CA2078657986 | SACS | c.1702G= (p.Asp568=) n.1840G= c.1693G= (p.Asp565=) n.4059G= c.-549G= (n.-549G=) c.574G= (p.Asp192=) c.1400G= c.1261G= (p.Asp421=) c.1726G= (p.Asp576=) | |
| 13 | g.23354910C>G | CA387547123 | SACS | c.1702G>C (p.Asp568His) n.1840G>C c.1693G>C (p.Asp565His) n.4059G>C c.-549G>C (n.-549G>C) c.574G>C (p.Asp192His) c.1400G>C c.1261G>C (p.Asp421His) c.1726G>C (p.Asp576His) | |
| 13 | g.23354910C>T | CA6911866 | SACS | c.1702G>A (p.Asp568Asn) n.1840G>A c.1693G>A (p.Asp565Asn) n.4059G>A c.-549G>A (n.-549G>A) c.574G>A (p.Asp192Asn) c.1400G>A c.1261G>A (p.Asp421Asn) c.1726G>A (p.Asp576Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23354911A= | CA2078657987 | SACS | c.1701T= (p.Cys567=) n.1839T= c.1692T= (p.Cys564=) n.4058T= c.-550T= (n.-550T=) c.573T= (p.Cys191=) c.1399T= c.1260T= (p.Cys420=) c.1725T= (p.Cys575=) | |
| 13 | g.23354911A>C | CA387547127 | SACS | c.1701T>G (p.Cys567Trp) n.1839T>G c.1692T>G (p.Cys564Trp) n.4058T>G c.-550T>G (n.-550T>G) c.573T>G (p.Cys191Trp) c.1399T>G c.1260T>G (p.Cys420Trp) c.1725T>G (p.Cys575Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23354911A>G | CA483164589 | SACS | c.1701T>C (p.Cys567=) n.1839T>C c.1692T>C (p.Cys564=) n.4058T>C c.-550T>C (n.-550T>C) c.573T>C (p.Cys191=) c.1399T>C c.1260T>C (p.Cys420=) c.1725T>C (p.Cys575=) | |
| 13 | g.23354911A>T | CA387547129 | SACS | c.1701T>A (p.Cys567Ter) n.1839T>A c.1692T>A (p.Cys564Ter) n.4058T>A c.-550T>A (n.-550T>A) c.573T>A (p.Cys191Ter) c.1399T>A c.1260T>A (p.Cys420Ter) c.1725T>A (p.Cys575Ter) | |
| 13 | g.23354912C>A | CA387547132 | SACS | c.1700G>T (p.Cys567Phe) n.1838G>T c.1691G>T (p.Cys564Phe) n.4057G>T c.-551G>T (n.-551G>T) c.572G>T (p.Cys191Phe) c.1398G>T c.1259G>T (p.Cys420Phe) c.1724G>T (p.Cys575Phe) | |
| 13 | g.23354912C>G | CA387547133 | SACS | c.1700G>C (p.Cys567Ser) n.1838G>C c.1691G>C (p.Cys564Ser) n.4057G>C c.-551G>C (n.-551G>C) c.572G>C (p.Cys191Ser) c.1398G>C c.1259G>C (p.Cys420Ser) c.1724G>C (p.Cys575Ser) | |
| 13 | g.23354912C>T | CA387547135 | SACS | c.1700G>A (p.Cys567Tyr) n.1838G>A c.1691G>A (p.Cys564Tyr) n.4057G>A c.-551G>A (n.-551G>A) c.572G>A (p.Cys191Tyr) c.1398G>A c.1259G>A (p.Cys420Tyr) c.1724G>A (p.Cys575Tyr) | |
| 13 | g.23354913A>C | CA387547138 | SACS | c.1699T>G (p.Cys567Gly) n.1837T>G c.1690T>G (p.Cys564Gly) n.4056T>G c.-552T>G (n.-552T>G) c.571T>G (p.Cys191Gly) c.1397T>G c.1258T>G (p.Cys420Gly) c.1723T>G (p.Cys575Gly) | |
| 13 | g.23354913A>G | CA387547140 | SACS | c.1699T>C (p.Cys567Arg) n.1837T>C c.1690T>C (p.Cys564Arg) n.4056T>C c.-552T>C (n.-552T>C) c.571T>C (p.Cys191Arg) c.1397T>C c.1258T>C (p.Cys420Arg) c.1723T>C (p.Cys575Arg) | COSMIC COSMIC |
| 13 | g.23354913A>T | CA387547141 | SACS | c.1699T>A (p.Cys567Ser) n.1837T>A c.1690T>A (p.Cys564Ser) n.4056T>A c.-552T>A (n.-552T>A) c.571T>A (p.Cys191Ser) c.1397T>A c.1258T>A (p.Cys420Ser) c.1723T>A (p.Cys575Ser) | |
| 13 | g.23354914G>A | CA483164593 | SACS | c.1698C>T (p.Ser566=) n.1836C>T c.1689C>T (p.Ser563=) n.4055C>T c.-553C>T (n.-553C>T) c.570C>T (p.Ser190=) c.1396C>T c.1257C>T (p.Ser419=) c.1722C>T (p.Ser574=) | |
| 13 | g.23354914G>C | CA387547144 | SACS | c.1698C>G (p.Ser566Arg) n.1836C>G c.1689C>G (p.Ser563Arg) n.4055C>G c.-553C>G (n.-553C>G) c.570C>G (p.Ser190Arg) c.1396C>G c.1257C>G (p.Ser419Arg) c.1722C>G (p.Ser574Arg) | |
| 13 | g.23354914G>T | CA387547146 | SACS | c.1698C>A (p.Ser566Arg) n.1836C>A c.1689C>A (p.Ser563Arg) n.4055C>A c.-553C>A (n.-553C>A) c.570C>A (p.Ser190Arg) c.1396C>A c.1257C>A (p.Ser419Arg) c.1722C>A (p.Ser574Arg) | |
| 13 | g.23354915C>A | CA387547156 | SACS | c.1697G>T (p.Ser566Ile) n.1835G>T c.1688G>T (p.Ser563Ile) n.4054G>T c.-554G>T (n.-554G>T) c.569G>T (p.Ser190Ile) c.1395G>T c.1256G>T (p.Ser419Ile) c.1721G>T (p.Ser574Ile) | |
| 13 | g.23354915C>G | CA387547148 | SACS | c.1697G>C (p.Ser566Thr) n.1835G>C c.1688G>C (p.Ser563Thr) n.4054G>C c.-554G>C (n.-554G>C) c.569G>C (p.Ser190Thr) c.1395G>C c.1256G>C (p.Ser419Thr) c.1721G>C (p.Ser574Thr) | |
| 13 | g.23354915C>T | CA387547154 | SACS | c.1697G>A (p.Ser566Asn) n.1835G>A c.1688G>A (p.Ser563Asn) n.4054G>A c.-554G>A (n.-554G>A) c.569G>A (p.Ser190Asn) c.1395G>A c.1256G>A (p.Ser419Asn) c.1721G>A (p.Ser574Asn) | |
| 13 | g.23354916T>A | CA387547159 | SACS | c.1696A>T (p.Ser566Cys) n.1834A>T c.1687A>T (p.Ser563Cys) n.4053A>T c.-555A>T (n.-555A>T) c.568A>T (p.Ser190Cys) c.1394A>T c.1255A>T (p.Ser419Cys) c.1720A>T (p.Ser574Cys) | |
| 13 | g.23354916T>C | CA387547161 | SACS | c.1696A>G (p.Ser566Gly) n.1834A>G c.1687A>G (p.Ser563Gly) n.4053A>G c.-555A>G (n.-555A>G) c.568A>G (p.Ser190Gly) c.1394A>G c.1255A>G (p.Ser419Gly) c.1720A>G (p.Ser574Gly) | |
| 13 | g.23354916T>G | CA387547162 | SACS | c.1696A>C (p.Ser566Arg) n.1834A>C c.1687A>C (p.Ser563Arg) n.4053A>C c.-555A>C (n.-555A>C) c.568A>C (p.Ser190Arg) c.1394A>C c.1255A>C (p.Ser419Arg) c.1720A>C (p.Ser574Arg) | |
| 13 | g.23354917A>C | CA387547165 | SACS | c.1695T>G (p.Ile565Met) n.1833T>G c.1686T>G (p.Ile562Met) n.4052T>G c.-556T>G (n.-556T>G) c.567T>G (p.Ile189Met) c.1393T>G c.1254T>G (p.Ile418Met) c.1719T>G (p.Ile573Met) | |
| 13 | g.23354917A>G | CA483164599 | SACS | c.1695T>C (p.Ile565=) n.1833T>C c.1686T>C (p.Ile562=) n.4052T>C c.-556T>C (n.-556T>C) c.567T>C (p.Ile189=) c.1393T>C c.1254T>C (p.Ile418=) c.1719T>C (p.Ile573=) | |
| 13 | g.23354917A>T | CA483164601 | SACS | c.1695T>A (p.Ile565=) n.1833T>A c.1686T>A (p.Ile562=) n.4052T>A c.-556T>A (n.-556T>A) c.567T>A (p.Ile189=) c.1393T>A c.1254T>A (p.Ile418=) c.1719T>A (p.Ile573=) | |
| 13 | g.23354918A>C | CA387547168 | SACS | c.1694T>G (p.Ile565Ser) n.1832T>G c.1685T>G (p.Ile562Ser) n.4051T>G c.-557T>G (n.-557T>G) c.566T>G (p.Ile189Ser) c.1392T>G c.1253T>G (p.Ile418Ser) c.1718T>G (p.Ile573Ser) | |
| 13 | g.23354918A>G | CA387547170 | SACS | c.1694T>C (p.Ile565Thr) n.1832T>C c.1685T>C (p.Ile562Thr) n.4051T>C c.-557T>C (n.-557T>C) c.566T>C (p.Ile189Thr) c.1392T>C c.1253T>C (p.Ile418Thr) c.1718T>C (p.Ile573Thr) | |
| 13 | g.23354918A>T | CA387547172 | SACS | c.1694T>A (p.Ile565Asn) n.1832T>A c.1685T>A (p.Ile562Asn) n.4051T>A c.-557T>A (n.-557T>A) c.566T>A (p.Ile189Asn) c.1392T>A c.1253T>A (p.Ile418Asn) c.1718T>A (p.Ile573Asn) | |
| 13 | g.23354919T>A | CA387547174 | SACS | c.1693A>T (p.Ile565Phe) n.1831A>T c.1684A>T (p.Ile562Phe) n.4050A>T c.-558A>T (n.-558A>T) c.565A>T (p.Ile189Phe) c.1391A>T c.1252A>T (p.Ile418Phe) c.1717A>T (p.Ile573Phe) | |
| 13 | g.23354919T>C | CA6911867 | SACS | c.1693A>G (p.Ile565Val) n.1831A>G c.1684A>G (p.Ile562Val) n.4050A>G c.-558A>G (n.-558A>G) c.565A>G (p.Ile189Val) c.1391A>G c.1252A>G (p.Ile418Val) c.1717A>G (p.Ile573Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23354919T>G | CA387547176 | SACS | c.1693A>C (p.Ile565Leu) n.1831A>C c.1684A>C (p.Ile562Leu) n.4050A>C c.-558A>C (n.-558A>C) c.565A>C (p.Ile189Leu) c.1391A>C c.1252A>C (p.Ile418Leu) c.1717A>C (p.Ile573Leu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.23354919T= | CA2078657988 | SACS | c.1693A= (p.Ile565=) n.1831A= c.1684A= (p.Ile562=) n.4050A= c.-558A= (n.-558A=) c.565A= (p.Ile189=) c.1391A= c.1252A= (p.Ile418=) c.1717A= (p.Ile573=) | |
| 13 | g.23354920del | CA2622331275 | SACS | c.1693del (p.Ile565LeufsTer20) n.1831del c.1684del (p.Ile562LeufsTer20) n.4050del c.-558del (n.-558del) c.565del (p.Ile189LeufsTer20) c.1391del c.1252del (p.Ile418LeufsTer20) c.1717del (p.Ile573LeufsTer20) | ClinVar gnomAD v4 |
| 13 | g.23354920T>A | CA6911868 | SACS | c.1692A>T (p.Ser564=) n.1830A>T c.1683A>T (p.Ser561=) n.4049A>T c.-559A>T (n.-559A>T) c.564A>T (p.Ser188=) c.1390A>T c.1251A>T (p.Ser417=) c.1716A>T (p.Ser572=) | dbSNP ExAC |
| 13 | g.23354920T>C | CA483164610 | SACS | c.1692A>G (p.Ser564=) n.1830A>G c.1683A>G (p.Ser561=) n.4049A>G c.-559A>G (n.-559A>G) c.564A>G (p.Ser188=) c.1390A>G c.1251A>G (p.Ser417=) c.1716A>G (p.Ser572=) | |
| 13 | g.23354920T>G | CA483164612 | SACS | c.1692A>C (p.Ser564=) n.1830A>C c.1683A>C (p.Ser561=) n.4049A>C c.-559A>C (n.-559A>C) c.564A>C (p.Ser188=) c.1390A>C c.1251A>C (p.Ser417=) c.1716A>C (p.Ser572=) | |
| 13 | g.23354920T= | CA2078657989 | SACS | c.1692A= (p.Ser564=) n.1830A= c.1683A= (p.Ser561=) n.4049A= c.-559A= (n.-559A=) c.564A= (p.Ser188=) c.1390A= c.1251A= (p.Ser417=) c.1716A= (p.Ser572=) | |
| 13 | g.23354921G>A | CA387547182 | SACS | c.1691C>T (p.Ser564Leu) n.1829C>T c.1682C>T (p.Ser561Leu) n.4048C>T c.-560C>T (n.-560C>T) c.563C>T (p.Ser188Leu) c.1389C>T c.1250C>T (p.Ser417Leu) c.1715C>T (p.Ser572Leu) | gnomAD v4 |
| 13 | g.23354921G>C | CA387547184 | SACS | c.1691C>G (p.Ser564Ter) n.1829C>G c.1682C>G (p.Ser561Ter) n.4048C>G c.-560C>G (n.-560C>G) c.563C>G (p.Ser188Ter) c.1389C>G c.1250C>G (p.Ser417Ter) c.1715C>G (p.Ser572Ter) | |
| 13 | g.23354921G>T | CA387547186 | SACS | c.1691C>A (p.Ser564Ter) n.1829C>A c.1682C>A (p.Ser561Ter) n.4048C>A c.-560C>A (n.-560C>A) c.563C>A (p.Ser188Ter) c.1389C>A c.1250C>A (p.Ser417Ter) c.1715C>A (p.Ser572Ter) | |
| 13 | g.23354922A>C | CA387547192 | SACS | c.1690T>G (p.Ser564Ala) n.1828T>G c.1681T>G (p.Ser561Ala) n.4047T>G c.-561T>G (n.-561T>G) c.562T>G (p.Ser188Ala) c.1388T>G c.1249T>G (p.Ser417Ala) c.1714T>G (p.Ser572Ala) | |
| 13 | g.23354922A>G | CA387547188 | SACS | c.1690T>C (p.Ser564Pro) n.1828T>C c.1681T>C (p.Ser561Pro) n.4047T>C c.-561T>C (n.-561T>C) c.562T>C (p.Ser188Pro) c.1388T>C c.1249T>C (p.Ser417Pro) c.1714T>C (p.Ser572Pro) | |
| 13 | g.23354922A>T | CA387547190 | SACS | c.1690T>A (p.Ser564Thr) n.1828T>A c.1681T>A (p.Ser561Thr) n.4047T>A c.-561T>A (n.-561T>A) c.562T>A (p.Ser188Thr) c.1388T>A c.1249T>A (p.Ser417Thr) c.1714T>A (p.Ser572Thr) | |
| 13 | g.23354923A>C | CA387547194 | SACS | c.1689T>G (p.Tyr563Ter) n.1827T>G c.1680T>G (p.Tyr560Ter) n.4046T>G c.-562T>G (n.-562T>G) c.561T>G (p.Tyr187Ter) c.1387T>G c.1248T>G (p.Tyr416Ter) c.1713T>G (p.Tyr571Ter) | |
| 13 | g.23354923A>G | CA483164615 | SACS | c.1689T>C (p.Tyr563=) n.1827T>C c.1680T>C (p.Tyr560=) n.4046T>C c.-562T>C (n.-562T>C) c.561T>C (p.Tyr187=) c.1387T>C c.1248T>C (p.Tyr416=) c.1713T>C (p.Tyr571=) |