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 |
|---|---|---|---|---|---|
| 9 | g.104831056C>A | CA466511991 | ABCA1 | c.1761G>T (p.Arg587=) c.1581G>T (p.Arg527=) c.1836G>T (p.Arg612=) c.1398G>T (p.Arg466=) c.1698G>T (p.Arg566=) n.2149G>T | |
| 9 | g.104831056C= | CA1869924133 | ABCA1 | c.1761G= (p.Arg587=) c.1581G= (p.Arg527=) c.1836G= (p.Arg612=) c.1398G= (p.Arg466=) c.1698G= (p.Arg566=) n.2149G= | |
| 9 | g.104831056C>G | CA466511992 | ABCA1 | c.1761G>C (p.Arg587=) c.1581G>C (p.Arg527=) c.1836G>C (p.Arg612=) c.1398G>C (p.Arg466=) c.1698G>C (p.Arg566=) n.2149G>C | |
| 9 | g.104831056C>T | CA5168911 | ABCA1 | c.1761G>A (p.Arg587=) c.1581G>A (p.Arg527=) c.1836G>A (p.Arg612=) c.1398G>A (p.Arg466=) c.1698G>A (p.Arg566=) n.2149G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104831057C>A | CA374323194 | ABCA1 | c.1760G>T (p.Arg587Leu) c.1580G>T (p.Arg527Leu) c.1835G>T (p.Arg612Leu) c.1397G>T (p.Arg466Leu) c.1697G>T (p.Arg566Leu) n.2148G>T | |
| 9 | g.104831057C= | CA1869924140 | ABCA1 | c.1760G= (p.Arg587=) c.1580G= (p.Arg527=) c.1835G= (p.Arg612=) c.1397G= (p.Arg466=) c.1697G= (p.Arg566=) n.2148G= | |
| 9 | g.104831057C>G | CA5168912 | ABCA1 | c.1760G>C (p.Arg587Pro) c.1580G>C (p.Arg527Pro) c.1835G>C (p.Arg612Pro) c.1397G>C (p.Arg466Pro) c.1697G>C (p.Arg566Pro) n.2148G>C | dbSNP ExAC gnomAD v4 |
| 9 | g.104831057C>T | CA374323197 | ABCA1 | c.1760G>A (p.Arg587Gln) c.1580G>A (p.Arg527Gln) c.1835G>A (p.Arg612Gln) c.1397G>A (p.Arg466Gln) c.1697G>A (p.Arg566Gln) n.2148G>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.104831058G>A | CA5168913 | ABCA1 | c.1759C>T (p.Arg587Trp) c.1579C>T (p.Arg527Trp) c.1834C>T (p.Arg612Trp) c.1396C>T (p.Arg466Trp) c.1696C>T (p.Arg566Trp) n.2147C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104831058G>C | CA374323200 | ABCA1 | c.1759C>G (p.Arg587Gly) c.1579C>G (p.Arg527Gly) c.1834C>G (p.Arg612Gly) c.1396C>G (p.Arg466Gly) c.1696C>G (p.Arg566Gly) n.2147C>G | |
| 9 | g.104831058G= | CA1869924146 | ABCA1 | c.1759C= (p.Arg587=) c.1579C= (p.Arg527=) c.1834C= (p.Arg612=) c.1396C= (p.Arg466=) c.1696C= (p.Arg566=) n.2147C= | |
| 9 | g.104831058G>T | CA466511993 | ABCA1 | c.1759C>A (p.Arg587=) c.1579C>A (p.Arg527=) c.1834C>A (p.Arg612=) c.1396C>A (p.Arg466=) c.1696C>A (p.Arg566=) n.2147C>A | |
| 9 | g.104831059C>A | CA374323204 | ABCA1 | c.1758G>T (p.Met586Ile) c.1578G>T (p.Met526Ile) c.1833G>T (p.Met611Ile) c.1395G>T (p.Met465Ile) c.1695G>T (p.Met565Ile) n.2146G>T | |
| 9 | g.104831059C>G | CA374323206 | ABCA1 | c.1758G>C (p.Met586Ile) c.1578G>C (p.Met526Ile) c.1833G>C (p.Met611Ile) c.1395G>C (p.Met465Ile) c.1695G>C (p.Met565Ile) n.2146G>C | |
| 9 | g.104831059C>T | CA374323208 | ABCA1 | c.1758G>A (p.Met586Ile) c.1578G>A (p.Met526Ile) c.1833G>A (p.Met611Ile) c.1395G>A (p.Met465Ile) c.1695G>A (p.Met565Ile) n.2146G>A | gnomAD v4 |
| 9 | g.104831059dup | CA589840756 | ABCA1 | c.1758dup (p.Arg587AlafsTer?) c.1578dup (p.Arg527AlafsTer?) c.1833dup (p.Arg612AlafsTer?) c.1395dup (p.Arg466AlafsTer?) c.1695dup (p.Arg566AlafsTer?) n.2146dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104831060A>C | CA374323211 | ABCA1 | c.1757T>G (p.Met586Arg) c.1577T>G (p.Met526Arg) c.1832T>G (p.Met611Arg) c.1394T>G (p.Met465Arg) c.1694T>G (p.Met565Arg) n.2145T>G | |
| 9 | g.104831060A>G | CA374323213 | ABCA1 | c.1757T>C (p.Met586Thr) c.1577T>C (p.Met526Thr) c.1832T>C (p.Met611Thr) c.1394T>C (p.Met465Thr) c.1694T>C (p.Met565Thr) n.2145T>C | |
| 9 | g.104831060A>T | CA374323215 | ABCA1 | c.1757T>A (p.Met586Lys) c.1577T>A (p.Met526Lys) c.1832T>A (p.Met611Lys) c.1394T>A (p.Met465Lys) c.1694T>A (p.Met565Lys) n.2145T>A | gnomAD v4 |
| 9 | g.104831061T>A | CA374323218 | ABCA1 | c.1756A>T (p.Met586Leu) c.1576A>T (p.Met526Leu) c.1831A>T (p.Met611Leu) c.1393A>T (p.Met465Leu) c.1693A>T (p.Met565Leu) n.2144A>T | |
| 9 | g.104831061T>C | CA374323220 | ABCA1 | c.1756A>G (p.Met586Val) c.1576A>G (p.Met526Val) c.1831A>G (p.Met611Val) c.1393A>G (p.Met465Val) c.1693A>G (p.Met565Val) n.2144A>G | gnomAD v4 |
| 9 | g.104831061T>G | CA374323222 | ABCA1 | c.1756A>C (p.Met586Leu) c.1576A>C (p.Met526Leu) c.1831A>C (p.Met611Leu) c.1393A>C (p.Met465Leu) c.1693A>C (p.Met565Leu) n.2144A>C | |
| 9 | g.104831062G>A | CA466511994 | ABCA1 | c.1755C>T (p.Asp585=) c.1575C>T (p.Asp525=) c.1830C>T (p.Asp610=) c.1392C>T (p.Asp464=) c.1692C>T (p.Asp564=) n.2143C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.104831062G>C | CA374323225 | ABCA1 | c.1755C>G (p.Asp585Glu) c.1575C>G (p.Asp525Glu) c.1830C>G (p.Asp610Glu) c.1392C>G (p.Asp464Glu) c.1692C>G (p.Asp564Glu) n.2143C>G | |
| 9 | g.104831062G= | CA1869924154 | ABCA1 | c.1755C= (p.Asp585=) c.1575C= (p.Asp525=) c.1830C= (p.Asp610=) c.1392C= (p.Asp464=) c.1692C= (p.Asp564=) n.2143C= | |
| 9 | g.104831062G>T | CA374323227 | ABCA1 | c.1755C>A (p.Asp585Glu) c.1575C>A (p.Asp525Glu) c.1830C>A (p.Asp610Glu) c.1392C>A (p.Asp464Glu) c.1692C>A (p.Asp564Glu) n.2143C>A | |
| 9 | g.104831063T>A | CA374323232 | ABCA1 | c.1754A>T (p.Asp585Val) c.1574A>T (p.Asp525Val) c.1829A>T (p.Asp610Val) c.1391A>T (p.Asp464Val) c.1691A>T (p.Asp564Val) n.2142A>T | |
| 9 | g.104831063T>C | CA374323233 | ABCA1 | c.1754A>G (p.Asp585Gly) c.1574A>G (p.Asp525Gly) c.1829A>G (p.Asp610Gly) c.1391A>G (p.Asp464Gly) c.1691A>G (p.Asp564Gly) n.2142A>G | dbSNP |
| 9 | g.104831063T>G | CA374323230 | ABCA1 | c.1754A>C (p.Asp585Ala) c.1574A>C (p.Asp525Ala) c.1829A>C (p.Asp610Ala) c.1391A>C (p.Asp464Ala) c.1691A>C (p.Asp564Ala) n.2142A>C | |
| 9 | g.104831063T= | CA1869924160 | ABCA1 | c.1754A= (p.Asp585=) c.1574A= (p.Asp525=) c.1829A= (p.Asp610=) c.1391A= (p.Asp464=) c.1691A= (p.Asp564=) n.2142A= | |
| 9 | g.104831064C>A | CA374323237 | ABCA1 | c.1753G>T (p.Asp585Tyr) c.1573G>T (p.Asp525Tyr) c.1828G>T (p.Asp610Tyr) c.1390G>T (p.Asp464Tyr) c.1690G>T (p.Asp564Tyr) n.2141G>T | gnomAD v4 |
| 9 | g.104831064C>G | CA374323238 | ABCA1 | c.1753G>C (p.Asp585His) c.1573G>C (p.Asp525His) c.1828G>C (p.Asp610His) c.1390G>C (p.Asp464His) c.1690G>C (p.Asp564His) n.2141G>C | |
| 9 | g.104831064C>T | CA374323240 | ABCA1 | c.1753G>A (p.Asp585Asn) c.1573G>A (p.Asp525Asn) c.1828G>A (p.Asp610Asn) c.1390G>A (p.Asp464Asn) c.1690G>A (p.Asp564Asn) n.2141G>A | |
| 9 | g.104831065C>A | CA374323243 | ABCA1 | c.1752G>T (p.Glu584Asp) c.1572G>T (p.Glu524Asp) c.1827G>T (p.Glu609Asp) c.1389G>T (p.Glu463Asp) c.1689G>T (p.Glu563Asp) n.2140G>T | |
| 9 | g.104831065C>G | CA374323245 | ABCA1 | c.1752G>C (p.Glu584Asp) c.1572G>C (p.Glu524Asp) c.1827G>C (p.Glu609Asp) c.1389G>C (p.Glu463Asp) c.1689G>C (p.Glu563Asp) n.2140G>C | |
| 9 | g.104831065C>T | CA466511995 | ABCA1 | c.1752G>A (p.Glu584=) c.1572G>A (p.Glu524=) c.1827G>A (p.Glu609=) c.1389G>A (p.Glu463=) c.1689G>A (p.Glu563=) n.2140G>A | |
| 9 | g.104831066T>A | CA374323252 | ABCA1 | c.1751A>T (p.Glu584Val) c.1571A>T (p.Glu524Val) c.1826A>T (p.Glu609Val) c.1388A>T (p.Glu463Val) c.1688A>T (p.Glu563Val) n.2139A>T | |
| 9 | g.104831066T>C | CA374323248 | ABCA1 | c.1751A>G (p.Glu584Gly) c.1571A>G (p.Glu524Gly) c.1826A>G (p.Glu609Gly) c.1388A>G (p.Glu463Gly) c.1688A>G (p.Glu563Gly) n.2139A>G | gnomAD v4 |
| 9 | g.104831066T>G | CA374323250 | ABCA1 | c.1751A>C (p.Glu584Ala) c.1571A>C (p.Glu524Ala) c.1826A>C (p.Glu609Ala) c.1388A>C (p.Glu463Ala) c.1688A>C (p.Glu563Ala) n.2139A>C | |
| 9 | g.104831067C>A | CA374323255 | ABCA1 | c.1750G>T (p.Glu584Ter) c.1570G>T (p.Glu524Ter) c.1825G>T (p.Glu609Ter) c.1387G>T (p.Glu463Ter) c.1687G>T (p.Glu563Ter) n.2138G>T | |
| 9 | g.104831067C>G | CA374323257 | ABCA1 | c.1750G>C (p.Glu584Gln) c.1570G>C (p.Glu524Gln) c.1825G>C (p.Glu609Gln) c.1387G>C (p.Glu463Gln) c.1687G>C (p.Glu563Gln) n.2138G>C | |
| 9 | g.104831067C>T | CA374323259 | ABCA1 | c.1750G>A (p.Glu584Lys) c.1570G>A (p.Glu524Lys) c.1825G>A (p.Glu609Lys) c.1387G>A (p.Glu463Lys) c.1687G>A (p.Glu563Lys) n.2138G>A | |
| 9 | g.104831068A= | CA1869924166 | ABCA1 | c.1749T= (p.Phe583=) c.1569T= (p.Phe523=) c.1824T= (p.Phe608=) c.1386T= (p.Phe462=) c.1686T= (p.Phe562=) n.2137T= | |
| 9 | g.104831068A>C | CA374323262 | ABCA1 | c.1749T>G (p.Phe583Leu) c.1569T>G (p.Phe523Leu) c.1824T>G (p.Phe608Leu) c.1386T>G (p.Phe462Leu) c.1686T>G (p.Phe562Leu) n.2137T>G | dbSNP |
| 9 | g.104831068A>G | CA466511996 | ABCA1 | c.1749T>C (p.Phe583=) c.1569T>C (p.Phe523=) c.1824T>C (p.Phe608=) c.1386T>C (p.Phe462=) c.1686T>C (p.Phe562=) n.2137T>C | |
| 9 | g.104831068A>T | CA374323263 | ABCA1 | c.1749T>A (p.Phe583Leu) c.1569T>A (p.Phe523Leu) c.1824T>A (p.Phe608Leu) c.1386T>A (p.Phe462Leu) c.1686T>A (p.Phe562Leu) n.2137T>A | |
| 9 | g.104831069A= | CA1869924172 | ABCA1 | c.1748T= (p.Phe583=) c.1568T= (p.Phe523=) c.1823T= (p.Phe608=) c.1385T= (p.Phe462=) c.1685T= (p.Phe562=) n.2136T= | |
| 9 | g.104831069A>C | CA374323264 | ABCA1 | c.1748T>G (p.Phe583Cys) c.1568T>G (p.Phe523Cys) c.1823T>G (p.Phe608Cys) c.1385T>G (p.Phe462Cys) c.1685T>G (p.Phe562Cys) n.2136T>G | |
| 9 | g.104831069A>G | CA374323266 | ABCA1 | c.1748T>C (p.Phe583Ser) c.1568T>C (p.Phe523Ser) c.1823T>C (p.Phe608Ser) c.1385T>C (p.Phe462Ser) c.1685T>C (p.Phe562Ser) n.2136T>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.104831069A>T | CA374323265 | ABCA1 | c.1748T>A (p.Phe583Tyr) c.1568T>A (p.Phe523Tyr) c.1823T>A (p.Phe608Tyr) c.1385T>A (p.Phe462Tyr) c.1685T>A (p.Phe562Tyr) n.2136T>A |