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.104826986A>C | CA374321609 | ABCA1 | c.2299T>G (p.Trp767Gly) n.472T>G c.2119T>G (p.Trp707Gly) c.2374T>G (p.Trp792Gly) c.1936T>G (p.Trp646Gly) c.2236T>G (p.Trp746Gly) n.2687T>G | |
| 9 | g.104826986A>G | CA374321610 | ABCA1 | c.2299T>C (p.Trp767Arg) n.472T>C c.2119T>C (p.Trp707Arg) c.2374T>C (p.Trp792Arg) c.1936T>C (p.Trp646Arg) c.2236T>C (p.Trp746Arg) n.2687T>C | |
| 9 | g.104826986A>T | CA374321611 | ABCA1 | c.2299T>A (p.Trp767Arg) n.472T>A c.2119T>A (p.Trp707Arg) c.2374T>A (p.Trp792Arg) c.1936T>A (p.Trp646Arg) c.2236T>A (p.Trp746Arg) n.2687T>A | |
| 9 | g.104826987T>A | CA466507796 | ABCA1 | c.2298A>T (p.Ala766=) n.471A>T c.2118A>T (p.Ala706=) c.2373A>T (p.Ala791=) c.1935A>T (p.Ala645=) c.2235A>T (p.Ala745=) n.2686A>T | |
| 9 | g.104826987T>C | CA466507797 | ABCA1 | c.2298A>G (p.Ala766=) n.471A>G c.2118A>G (p.Ala706=) c.2373A>G (p.Ala791=) c.1935A>G (p.Ala645=) c.2235A>G (p.Ala745=) n.2686A>G | |
| 9 | g.104826987T>G | CA5168771 | ABCA1 | c.2298A>C (p.Ala766=) n.471A>C c.2118A>C (p.Ala706=) c.2373A>C (p.Ala791=) c.1935A>C (p.Ala645=) c.2235A>C (p.Ala745=) n.2686A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104826987T= | CA1869916613 | ABCA1 | c.2298A= (p.Ala766=) n.471A= c.2118A= (p.Ala706=) c.2373A= (p.Ala791=) c.1935A= (p.Ala645=) c.2235A= (p.Ala745=) n.2686A= | |
| 9 | g.104826988G>A | CA374321612 | ABCA1 | c.2297C>T (p.Ala766Val) n.470C>T c.2117C>T (p.Ala706Val) c.2372C>T (p.Ala791Val) c.1934C>T (p.Ala645Val) c.2234C>T (p.Ala745Val) n.2685C>T | dbSNP |
| 9 | g.104826988G>C | CA374321613 | ABCA1 | c.2297C>G (p.Ala766Gly) n.470C>G c.2117C>G (p.Ala706Gly) c.2372C>G (p.Ala791Gly) c.1934C>G (p.Ala645Gly) c.2234C>G (p.Ala745Gly) n.2685C>G | |
| 9 | g.104826988G= | CA1869916633 | ABCA1 | c.2297C= (p.Ala766=) n.470C= c.2117C= (p.Ala706=) c.2372C= (p.Ala791=) c.1934C= (p.Ala645=) c.2234C= (p.Ala745=) n.2685C= | |
| 9 | g.104826988G>T | CA374321614 | ABCA1 | c.2297C>A (p.Ala766Glu) n.470C>A c.2117C>A (p.Ala706Glu) c.2372C>A (p.Ala791Glu) c.1934C>A (p.Ala645Glu) c.2234C>A (p.Ala745Glu) n.2685C>A | |
| 9 | g.104826989C>A | CA374321615 | ABCA1 | c.2296G>T (p.Ala766Ser) n.469G>T c.2116G>T (p.Ala706Ser) c.2371G>T (p.Ala791Ser) c.1933G>T (p.Ala645Ser) c.2233G>T (p.Ala745Ser) n.2684G>T | ClinVar dbSNP gnomAD v4 |
| 9 | g.104826989C= | CA1869916646 | ABCA1 | c.2296G= (p.Ala766=) n.469G= c.2116G= (p.Ala706=) c.2371G= (p.Ala791=) c.1933G= (p.Ala645=) c.2233G= (p.Ala745=) n.2684G= | |
| 9 | g.104826989C>G | CA374321616 | ABCA1 | c.2296G>C (p.Ala766Pro) n.469G>C c.2116G>C (p.Ala706Pro) c.2371G>C (p.Ala791Pro) c.1933G>C (p.Ala645Pro) c.2233G>C (p.Ala745Pro) n.2684G>C | |
| 9 | g.104826989C>T | CA374321617 | ABCA1 | c.2296G>A (p.Ala766Thr) n.469G>A c.2116G>A (p.Ala706Thr) c.2371G>A (p.Ala791Thr) c.1933G>A (p.Ala645Thr) c.2233G>A (p.Ala745Thr) n.2684G>A | |
| 9 | g.104826990C>A | CA466507810 | ABCA1 | c.2295G>T (p.Val765=) n.468G>T c.2115G>T (p.Val705=) c.2370G>T (p.Val790=) c.1932G>T (p.Val644=) c.2232G>T (p.Val744=) n.2683G>T | |
| 9 | g.104826990C>G | CA466507811 | ABCA1 | c.2295G>C (p.Val765=) n.468G>C c.2115G>C (p.Val705=) c.2370G>C (p.Val790=) c.1932G>C (p.Val644=) c.2232G>C (p.Val744=) n.2683G>C | |
| 9 | g.104826990C>T | CA466507813 | ABCA1 | c.2295G>A (p.Val765=) n.468G>A c.2115G>A (p.Val705=) c.2370G>A (p.Val790=) c.1932G>A (p.Val644=) c.2232G>A (p.Val744=) n.2683G>A | |
| 9 | g.104826991A= | CA1869916674 | ABCA1 | c.2294T= (p.Val765=) n.467T= c.2114T= (p.Val705=) c.2369T= (p.Val790=) c.1931T= (p.Val644=) c.2231T= (p.Val744=) n.2682T= | |
| 9 | g.104826991A>C | CA374321618 | ABCA1 | c.2294T>G (p.Val765Gly) n.467T>G c.2114T>G (p.Val705Gly) c.2369T>G (p.Val790Gly) c.1931T>G (p.Val644Gly) c.2231T>G (p.Val744Gly) n.2682T>G | gnomAD v4 |
| 9 | g.104826991A>G | CA374321619 | ABCA1 | c.2294T>C (p.Val765Ala) n.467T>C c.2114T>C (p.Val705Ala) c.2369T>C (p.Val790Ala) c.1931T>C (p.Val644Ala) c.2231T>C (p.Val744Ala) n.2682T>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.104826991A>T | CA374321620 | ABCA1 | c.2294T>A (p.Val765Glu) n.467T>A c.2114T>A (p.Val705Glu) c.2369T>A (p.Val790Glu) c.1931T>A (p.Val644Glu) c.2231T>A (p.Val744Glu) n.2682T>A | |
| 9 | g.104826992C>A | CA374321623 | ABCA1 | c.2293G>T (p.Val765Leu) n.466G>T c.2113G>T (p.Val705Leu) c.2368G>T (p.Val790Leu) c.1930G>T (p.Val644Leu) c.2230G>T (p.Val744Leu) n.2681G>T | |
| 9 | g.104826992C>G | CA374321621 | ABCA1 | c.2293G>C (p.Val765Leu) n.466G>C c.2113G>C (p.Val705Leu) c.2368G>C (p.Val790Leu) c.1930G>C (p.Val644Leu) c.2230G>C (p.Val744Leu) n.2681G>C | |
| 9 | g.104826992C>T | CA374321622 | ABCA1 | c.2293G>A (p.Val765Met) n.466G>A c.2113G>A (p.Val705Met) c.2368G>A (p.Val790Met) c.1930G>A (p.Val644Met) c.2230G>A (p.Val744Met) n.2681G>A | |
| 9 | g.104826993A>C | CA374321624 | ABCA1 | c.2292T>G (p.Cys764Trp) n.465T>G c.2112T>G (p.Cys704Trp) c.2367T>G (p.Cys789Trp) c.1929T>G (p.Cys643Trp) c.2229T>G (p.Cys743Trp) n.2680T>G | |
| 9 | g.104826993A>G | CA466507824 | ABCA1 | c.2292T>C (p.Cys764=) n.465T>C c.2112T>C (p.Cys704=) c.2367T>C (p.Cys789=) c.1929T>C (p.Cys643=) c.2229T>C (p.Cys743=) n.2680T>C | |
| 9 | g.104826993A>T | CA374321625 | ABCA1 | c.2292T>A (p.Cys764Ter) n.465T>A c.2112T>A (p.Cys704Ter) c.2367T>A (p.Cys789Ter) c.1929T>A (p.Cys643Ter) c.2229T>A (p.Cys743Ter) n.2680T>A | |
| 9 | g.104826994C>A | CA374321626 | ABCA1 | c.2291G>T (p.Cys764Phe) n.464G>T c.2111G>T (p.Cys704Phe) c.2366G>T (p.Cys789Phe) c.1928G>T (p.Cys643Phe) c.2228G>T (p.Cys743Phe) n.2679G>T | |
| 9 | g.104826994C>G | CA374321627 | ABCA1 | c.2291G>C (p.Cys764Ser) n.464G>C c.2111G>C (p.Cys704Ser) c.2366G>C (p.Cys789Ser) c.1928G>C (p.Cys643Ser) c.2228G>C (p.Cys743Ser) n.2679G>C | |
| 9 | g.104826994C>T | CA374321628 | ABCA1 | c.2291G>A (p.Cys764Tyr) n.464G>A c.2111G>A (p.Cys704Tyr) c.2366G>A (p.Cys789Tyr) c.1928G>A (p.Cys643Tyr) c.2228G>A (p.Cys743Tyr) n.2679G>A | |
| 9 | g.104826995A>C | CA374321631 | ABCA1 | c.2290T>G (p.Cys764Gly) n.463T>G c.2110T>G (p.Cys704Gly) c.2365T>G (p.Cys789Gly) c.1927T>G (p.Cys643Gly) c.2227T>G (p.Cys743Gly) n.2678T>G | |
| 9 | g.104826995A>G | CA374321630 | ABCA1 | c.2290T>C (p.Cys764Arg) n.463T>C c.2110T>C (p.Cys704Arg) c.2365T>C (p.Cys789Arg) c.1927T>C (p.Cys643Arg) c.2227T>C (p.Cys743Arg) n.2678T>C | |
| 9 | g.104826995A>T | CA374321629 | ABCA1 | c.2290T>A (p.Cys764Ser) n.463T>A c.2110T>A (p.Cys704Ser) c.2365T>A (p.Cys789Ser) c.1927T>A (p.Cys643Ser) c.2227T>A (p.Cys743Ser) n.2678T>A | |
| 9 | g.104826996C>A | CA5168772 | ABCA1 | c.2289G>T (p.Leu763=) n.462G>T c.2109G>T (p.Leu703=) c.2364G>T (p.Leu788=) c.1926G>T (p.Leu642=) c.2226G>T (p.Leu742=) n.2677G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104826996C= | CA1869916678 | ABCA1 | c.2289G= (p.Leu763=) n.462G= c.2109G= (p.Leu703=) c.2364G= (p.Leu788=) c.1926G= (p.Leu642=) c.2226G= (p.Leu742=) n.2677G= | |
| 9 | g.104826996C>G | CA466507831 | ABCA1 | c.2289G>C (p.Leu763=) n.462G>C c.2109G>C (p.Leu703=) c.2364G>C (p.Leu788=) c.1926G>C (p.Leu642=) c.2226G>C (p.Leu742=) n.2677G>C | |
| 9 | g.104826996C>T | CA466507833 | ABCA1 | c.2289G>A (p.Leu763=) n.462G>A c.2109G>A (p.Leu703=) c.2364G>A (p.Leu788=) c.1926G>A (p.Leu642=) c.2226G>A (p.Leu742=) n.2677G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.104826997A>C | CA374321632 | ABCA1 | c.2288T>G (p.Leu763Arg) n.461T>G c.2108T>G (p.Leu703Arg) c.2363T>G (p.Leu788Arg) c.1925T>G (p.Leu642Arg) c.2225T>G (p.Leu742Arg) n.2676T>G | |
| 9 | g.104826997A>G | CA374321633 | ABCA1 | c.2288T>C (p.Leu763Pro) n.461T>C c.2108T>C (p.Leu703Pro) c.2363T>C (p.Leu788Pro) c.1925T>C (p.Leu642Pro) c.2225T>C (p.Leu742Pro) n.2676T>C | |
| 9 | g.104826997A>T | CA374321634 | ABCA1 | c.2288T>A (p.Leu763Gln) n.461T>A c.2108T>A (p.Leu703Gln) c.2363T>A (p.Leu788Gln) c.1925T>A (p.Leu642Gln) c.2225T>A (p.Leu742Gln) n.2676T>A | |
| 9 | g.104826998G>A | CA466507839 | ABCA1 | c.2287C>T (p.Leu763=) n.460C>T c.2107C>T (p.Leu703=) c.2362C>T (p.Leu788=) c.1924C>T (p.Leu642=) c.2224C>T (p.Leu742=) n.2675C>T | gnomAD v4 |
| 9 | g.104826998G>C | CA374321635 | ABCA1 | c.2287C>G (p.Leu763Val) n.460C>G c.2107C>G (p.Leu703Val) c.2362C>G (p.Leu788Val) c.1924C>G (p.Leu642Val) c.2224C>G (p.Leu742Val) n.2675C>G | gnomAD v4 |
| 9 | g.104826998G>T | CA374321636 | ABCA1 | c.2287C>A (p.Leu763Met) n.460C>A c.2107C>A (p.Leu703Met) c.2362C>A (p.Leu788Met) c.1924C>A (p.Leu642Met) c.2224C>A (p.Leu742Met) n.2675C>A | |
| 9 | g.104826999G>A | CA466507844 | ABCA1 | c.2286C>T (p.Val762=) n.459C>T c.2106C>T (p.Val702=) c.2361C>T (p.Val787=) c.1923C>T (p.Val641=) c.2223C>T (p.Val741=) n.2674C>T | |
| 9 | g.104826999G>C | CA466507846 | ABCA1 | c.2286C>G (p.Val762=) n.459C>G c.2106C>G (p.Val702=) c.2361C>G (p.Val787=) c.1923C>G (p.Val641=) c.2223C>G (p.Val741=) n.2674C>G | |
| 9 | g.104826999G>T | CA466507847 | ABCA1 | c.2286C>A (p.Val762=) n.459C>A c.2106C>A (p.Val702=) c.2361C>A (p.Val787=) c.1923C>A (p.Val641=) c.2223C>A (p.Val741=) n.2674C>A | |
| 9 | g.104827000A>C | CA374321639 | ABCA1 | c.2285T>G (p.Val762Gly) n.458T>G c.2105T>G (p.Val702Gly) c.2360T>G (p.Val787Gly) c.1922T>G (p.Val641Gly) c.2222T>G (p.Val741Gly) n.2673T>G | |
| 9 | g.104827000A>G | CA374321637 | ABCA1 | c.2285T>C (p.Val762Ala) n.458T>C c.2105T>C (p.Val702Ala) c.2360T>C (p.Val787Ala) c.1922T>C (p.Val641Ala) c.2222T>C (p.Val741Ala) n.2673T>C | |
| 9 | g.104827000A>T | CA374321638 | ABCA1 | c.2285T>A (p.Val762Asp) n.458T>A c.2105T>A (p.Val702Asp) c.2360T>A (p.Val787Asp) c.1922T>A (p.Val641Asp) c.2222T>A (p.Val741Asp) n.2673T>A |