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 |
|---|---|---|---|---|---|
| 19 | g.1047326T>A | CA402952362 | ABCA7 | c.2015T>A (p.Val672Glu) n.2695T>A c.1601T>A (p.Val534Glu) n.433T>A c.1559T>A (p.Val520Glu) n.2233T>A | |
| 19 | g.1047326T>C | CA402952363 | ABCA7 | c.2015T>C (p.Val672Ala) n.2695T>C c.1601T>C (p.Val534Ala) n.433T>C c.1559T>C (p.Val520Ala) n.2233T>C | dbSNP gnomAD v4 |
| 19 | g.1047326T>G | CA402952364 | ABCA7 | c.2015T>G (p.Val672Gly) n.2695T>G c.1601T>G (p.Val534Gly) n.433T>G c.1559T>G (p.Val520Gly) n.2233T>G | |
| 19 | g.1047326T= | CA2317482884 | ABCA7 | c.2015T= (p.Val672=) n.2695T= c.1601T= (p.Val534=) n.433T= c.1559T= (p.Val520=) n.2233T= | |
| 19 | g.1047327G>A | CA504887637 | ABCA7 | c.2016G>A (p.Val672=) n.2696G>A c.1602G>A (p.Val534=) n.434G>A c.1560G>A (p.Val520=) n.2234G>A | gnomAD v4 |
| 19 | g.1047327G>C | CA504887638 | ABCA7 | c.2016G>C (p.Val672=) n.2696G>C c.1602G>C (p.Val534=) n.434G>C c.1560G>C (p.Val520=) n.2234G>C | |
| 19 | g.1047327G>T | CA504887639 | ABCA7 | c.2016G>T (p.Val672=) n.2696G>T c.1602G>T (p.Val534=) n.434G>T c.1560G>T (p.Val520=) n.2234G>T | gnomAD v4 |
| 19 | g.1047328C>A | CA402952366 | ABCA7 | c.2017C>A (p.Leu673Met) n.2697C>A c.1603C>A (p.Leu535Met) n.435C>A c.1561C>A (p.Leu521Met) n.2235C>A | gnomAD v4 |
| 19 | g.1047328C= | CA2317482885 | ABCA7 | c.2017C= (p.Leu673=) n.2697C= c.1603C= (p.Leu535=) n.435C= c.1561C= (p.Leu521=) n.2235C= | |
| 19 | g.1047328C>G | CA402952368 | ABCA7 | c.2017C>G (p.Leu673Val) n.2697C>G c.1603C>G (p.Leu535Val) n.435C>G c.1561C>G (p.Leu521Val) n.2235C>G | |
| 19 | g.1047328C>T | CA504887640 | ABCA7 | c.2017C>T (p.Leu673=) n.2697C>T c.1603C>T (p.Leu535=) n.435C>T c.1561C>T (p.Leu521=) n.2235C>T | dbSNP gnomAD v4 |
| 19 | g.1047329T>A | CA402952369 | ABCA7 | c.2018T>A (p.Leu673Gln) n.2698T>A c.1604T>A (p.Leu535Gln) n.436T>A c.1562T>A (p.Leu521Gln) n.2236T>A | |
| 19 | g.1047329T>C | CA402952370 | ABCA7 | c.2018T>C (p.Leu673Pro) n.2698T>C c.1604T>C (p.Leu535Pro) n.436T>C c.1562T>C (p.Leu521Pro) n.2236T>C | gnomAD v4 |
| 19 | g.1047329T>G | CA402952371 | ABCA7 | c.2018T>G (p.Leu673Arg) n.2698T>G c.1604T>G (p.Leu535Arg) n.436T>G c.1562T>G (p.Leu521Arg) n.2236T>G | |
| 19 | g.1047335_1047336del | CA2588185561 | ABCA7 | c.2024_2025del (p.Val675GlyfsTer?) n.2704_2705del c.1610_1611del (p.Val537GlyfsTer?) n.442_443del c.1568_1569del (p.Val523GlyfsTer?) n.2242_2243del | gnomAD v4 |
| 19 | g.1047330G>A | CA504887641 | ABCA7 | c.2019G>A (p.Leu673=) n.2699G>A c.1605G>A (p.Leu535=) n.437G>A c.1563G>A (p.Leu521=) n.2237G>A | |
| 19 | g.1047330G>C | CA504887642 | ABCA7 | c.2019G>C (p.Leu673=) n.2699G>C c.1605G>C (p.Leu535=) n.437G>C c.1563G>C (p.Leu521=) n.2237G>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1047330G= | CA2317482886 | ABCA7 | c.2019G= (p.Leu673=) n.2699G= c.1605G= (p.Leu535=) n.437G= c.1563G= (p.Leu521=) n.2237G= | |
| 19 | g.1047330G>T | CA504887643 | ABCA7 | c.2019G>T (p.Leu673=) n.2699G>T c.1605G>T (p.Leu535=) n.437G>T c.1563G>T (p.Leu521=) n.2237G>T | gnomAD v4 |
| 19 | g.1047331T>A | CA402952372 | ABCA7 | c.2020T>A (p.Cys674Ser) n.2700T>A c.1606T>A (p.Cys536Ser) n.438T>A c.1564T>A (p.Cys522Ser) n.2238T>A | |
| 19 | g.1047331T>C | CA402952374 | ABCA7 | c.2020T>C (p.Cys674Arg) n.2700T>C c.1606T>C (p.Cys536Arg) n.438T>C c.1564T>C (p.Cys522Arg) n.2238T>C | |
| 19 | g.1047331T>G | CA402952377 | ABCA7 | c.2020T>G (p.Cys674Gly) n.2700T>G c.1606T>G (p.Cys536Gly) n.438T>G c.1564T>G (p.Cys522Gly) n.2238T>G | |
| 19 | g.1047332G>A | CA9033273 | ABCA7 | c.2021G>A (p.Cys674Tyr) n.2701G>A c.1607G>A (p.Cys536Tyr) n.439G>A c.1565G>A (p.Cys522Tyr) n.2239G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1047332G>C | CA402952382 | ABCA7 | c.2021G>C (p.Cys674Ser) n.2701G>C c.1607G>C (p.Cys536Ser) n.439G>C c.1565G>C (p.Cys522Ser) n.2239G>C | |
| 19 | g.1047332G= | CA2317482887 | ABCA7 | c.2021G= (p.Cys674=) n.2701G= c.1607G= (p.Cys536=) n.439G= c.1565G= (p.Cys522=) n.2239G= | |
| 19 | g.1047332G>T | CA402952380 | ABCA7 | c.2021G>T (p.Cys674Phe) n.2701G>T c.1607G>T (p.Cys536Phe) n.439G>T c.1565G>T (p.Cys522Phe) n.2239G>T | dbSNP gnomAD v4 |
| 19 | g.1047333T>A | CA402952383 | ABCA7 | c.2022T>A (p.Cys674Ter) n.2702T>A c.1608T>A (p.Cys536Ter) n.440T>A c.1566T>A (p.Cys522Ter) n.2240T>A | |
| 19 | g.1047333T>C | CA9033274 | ABCA7 | c.2022T>C (p.Cys674=) n.2702T>C c.1608T>C (p.Cys536=) n.440T>C c.1566T>C (p.Cys522=) n.2240T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1047333T>G | CA402952385 | ABCA7 | c.2022T>G (p.Cys674Trp) n.2702T>G c.1608T>G (p.Cys536Trp) n.440T>G c.1566T>G (p.Cys522Trp) n.2240T>G | |
| 19 | g.1047333T= | CA2317482888 | ABCA7 | c.2022T= (p.Cys674=) n.2702T= c.1608T= (p.Cys536=) n.440T= c.1566T= (p.Cys522=) n.2240T= | |
| 19 | g.1047334G>A | CA402952388 | ABCA7 | c.2023G>A (p.Val675Met) n.2703G>A c.1609G>A (p.Val537Met) n.441G>A c.1567G>A (p.Val523Met) n.2241G>A | |
| 19 | g.1047334G>C | CA402952390 | ABCA7 | c.2023G>C (p.Val675Leu) n.2703G>C c.1609G>C (p.Val537Leu) n.441G>C c.1567G>C (p.Val523Leu) n.2241G>C | |
| 19 | g.1047334G>T | CA402952392 | ABCA7 | c.2023G>T (p.Val675Leu) n.2703G>T c.1609G>T (p.Val537Leu) n.441G>T c.1567G>T (p.Val523Leu) n.2241G>T | gnomAD v4 |
| 19 | g.1047335T>A | CA402952394 | ABCA7 | c.2024T>A (p.Val675Glu) n.2704T>A c.1610T>A (p.Val537Glu) n.442T>A c.1568T>A (p.Val523Glu) n.2242T>A | |
| 19 | g.1047335T>C | CA402952396 | ABCA7 | c.2024T>C (p.Val675Ala) n.2704T>C c.1610T>C (p.Val537Ala) n.442T>C c.1568T>C (p.Val523Ala) n.2242T>C | |
| 19 | g.1047335T>G | CA402952398 | ABCA7 | c.2024T>G (p.Val675Gly) n.2704T>G c.1610T>G (p.Val537Gly) n.442T>G c.1568T>G (p.Val523Gly) n.2242T>G | |
| 19 | g.1047336G>A | CA504887644 | ABCA7 | c.2025G>A (p.Val675=) n.2705G>A c.1611G>A (p.Val537=) n.443G>A c.1569G>A (p.Val523=) n.2243G>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1047336G>C | CA504887645 | ABCA7 | c.2025G>C (p.Val675=) n.2705G>C c.1611G>C (p.Val537=) n.443G>C c.1569G>C (p.Val523=) n.2243G>C | gnomAD v4 |
| 19 | g.1047336G= | CA2317482889 | ABCA7 | c.2025G= (p.Val675=) n.2705G= c.1611G= (p.Val537=) n.443G= c.1569G= (p.Val523=) n.2243G= | |
| 19 | g.1047336G>T | CA504887646 | ABCA7 | c.2025G>T (p.Val675=) n.2705G>T c.1611G>T (p.Val537=) n.443G>T c.1569G>T (p.Val523=) n.2243G>T | gnomAD v4 |
| 19 | g.1047337G>A | CA9033275 | ABCA7 | c.2026G>A (p.Ala676Thr) n.2706G>A c.1612G>A (p.Ala538Thr) n.444G>A c.1570G>A (p.Ala524Thr) n.2244G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1047337G>C | CA402952401 | ABCA7 | c.2026G>C (p.Ala676Pro) n.2706G>C c.1612G>C (p.Ala538Pro) n.444G>C c.1570G>C (p.Ala524Pro) n.2244G>C | dbSNP gnomAD v4 |
| 19 | g.1047337G= | CA2317482890 | ABCA7 | c.2026G= (p.Ala676=) n.2706G= c.1612G= (p.Ala538=) n.444G= c.1570G= (p.Ala524=) n.2244G= | |
| 19 | g.1047337G>T | CA402952402 | ABCA7 | c.2026G>T (p.Ala676Ser) n.2706G>T c.1612G>T (p.Ala538Ser) n.444G>T c.1570G>T (p.Ala524Ser) n.2244G>T | gnomAD v4 |
| 19 | g.1047338C>A | CA402952406 | ABCA7 | c.2027C>A (p.Ala676Asp) n.2707C>A c.1613C>A (p.Ala538Asp) n.445C>A c.1571C>A (p.Ala524Asp) n.2245C>A | gnomAD v4 |
| 19 | g.1047338C>G | CA402952403 | ABCA7 | c.2027C>G (p.Ala676Gly) n.2707C>G c.1613C>G (p.Ala538Gly) n.445C>G c.1571C>G (p.Ala524Gly) n.2245C>G | |
| 19 | g.1047338C>T | CA402952404 | ABCA7 | c.2027C>T (p.Ala676Val) n.2707C>T c.1613C>T (p.Ala538Val) n.445C>T c.1571C>T (p.Ala524Val) n.2245C>T | |
| 19 | g.1047339T>A | CA504887647 | ABCA7 | c.2028T>A (p.Ala676=) n.2708T>A c.1614T>A (p.Ala538=) n.446T>A c.1572T>A (p.Ala524=) n.2246T>A | |
| 19 | g.1047339T>C | CA504887648 | ABCA7 | c.2028T>C (p.Ala676=) n.2708T>C c.1614T>C (p.Ala538=) n.446T>C c.1572T>C (p.Ala524=) n.2246T>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1047339T>G | CA504887649 | ABCA7 | c.2028T>G (p.Ala676=) n.2708T>G c.1614T>G (p.Ala538=) n.446T>G c.1572T>G (p.Ala524=) n.2246T>G |