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 |
|---|---|---|---|---|---|
| 11 | g.121554079T>A | CA383033916 | SORL1 | c.2409T>A (p.Tyr803Ter) c.870T>A (p.Tyr290Ter) c.2097T>A (p.Tyr699Ter) c.1884T>A (p.Tyr628Ter) c.-140T>A (n.-140T>A) | |
| 11 | g.121554079T>C | CA6328925 | SORL1 | c.2409T>C (p.Tyr803=) c.870T>C (p.Tyr290=) c.2097T>C (p.Tyr699=) c.1884T>C (p.Tyr628=) c.-140T>C (n.-140T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121554079T>G | CA383033917 | SORL1 | c.2409T>G (p.Tyr803Ter) c.870T>G (p.Tyr290Ter) c.2097T>G (p.Tyr699Ter) c.1884T>G (p.Tyr628Ter) c.-140T>G (n.-140T>G) | |
| 11 | g.121554079T= | CA2004917320 | SORL1 | c.2409T= (p.Tyr803=) c.870T= (p.Tyr290=) c.2097T= (p.Tyr699=) c.1884T= (p.Tyr628=) c.-140T= (n.-140T=) | |
| 11 | g.121554080T>A | CA383033918 | SORL1 | c.2410T>A (p.Trp804Arg) c.871T>A (p.Trp291Arg) c.2098T>A (p.Trp700Arg) c.1885T>A (p.Trp629Arg) c.-139T>A (n.-139T>A) | |
| 11 | g.121554080T>C | CA383033919 | SORL1 | c.2410T>C (p.Trp804Arg) c.871T>C (p.Trp291Arg) c.2098T>C (p.Trp700Arg) c.1885T>C (p.Trp629Arg) c.-139T>C (n.-139T>C) | |
| 11 | g.121554080T>G | CA383033920 | SORL1 | c.2410T>G (p.Trp804Gly) c.871T>G (p.Trp291Gly) c.2098T>G (p.Trp700Gly) c.1885T>G (p.Trp629Gly) c.-139T>G (n.-139T>G) | |
| 11 | g.121554081G>A | CA383033921 | SORL1 | c.2411G>A (p.Trp804Ter) c.872G>A (p.Trp291Ter) c.2099G>A (p.Trp700Ter) c.1886G>A (p.Trp629Ter) c.-138G>A (n.-138G>A) | |
| 11 | g.121554081G>C | CA383033922 | SORL1 | c.2411G>C (p.Trp804Ser) c.872G>C (p.Trp291Ser) c.2099G>C (p.Trp700Ser) c.1886G>C (p.Trp629Ser) c.-138G>C (n.-138G>C) | |
| 11 | g.121554081G= | CA2004917321 | SORL1 | c.2411G= (p.Trp804=) c.872G= (p.Trp291=) c.2099G= (p.Trp700=) c.1886G= (p.Trp629=) c.-138G= (n.-138G=) | |
| 11 | g.121554081G>T | CA6328926 | SORL1 | c.2411G>T (p.Trp804Leu) c.872G>T (p.Trp291Leu) c.2099G>T (p.Trp700Leu) c.1886G>T (p.Trp629Leu) c.-138G>T (n.-138G>T) | dbSNP ExAC gnomAD v4 |
| 11 | g.121554082del | CA2616499429 | SORL1 | c.2412del (p.Trp804CysfsTer14) c.873del (p.Trp291CysfsTer14) c.2100del (p.Trp700CysfsTer14) c.1887del (p.Trp629CysfsTer14) c.-137del (n.-137del) | gnomAD v4 |
| 11 | g.121554082G>A | CA383033924 | SORL1 | c.2412G>A (p.Trp804Ter) c.873G>A (p.Trp291Ter) c.2100G>A (p.Trp700Ter) c.1887G>A (p.Trp629Ter) c.-137G>A (n.-137G>A) | |
| 11 | g.121554082G>C | CA6328927 | SORL1 | c.2412G>C (p.Trp804Cys) c.873G>C (p.Trp291Cys) c.2100G>C (p.Trp700Cys) c.1887G>C (p.Trp629Cys) c.-137G>C (n.-137G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121554082G= | CA2004917322 | SORL1 | c.2412G= (p.Trp804=) c.873G= (p.Trp291=) c.2100G= (p.Trp700=) c.1887G= (p.Trp629=) c.-137G= (n.-137G=) | |
| 11 | g.121554082G>T | CA383033923 | SORL1 | c.2412G>T (p.Trp804Cys) c.873G>T (p.Trp291Cys) c.2100G>T (p.Trp700Cys) c.1887G>T (p.Trp629Cys) c.-137G>T (n.-137G>T) | |
| 11 | g.121554083T>A | CA383033925 | SORL1 | c.2413T>A (p.Ser805Thr) c.874T>A (p.Ser292Thr) c.2101T>A (p.Ser701Thr) c.1888T>A (p.Ser630Thr) c.-136T>A (n.-136T>A) | |
| 11 | g.121554083T>C | CA383033926 | SORL1 | c.2413T>C (p.Ser805Pro) c.874T>C (p.Ser292Pro) c.2101T>C (p.Ser701Pro) c.1888T>C (p.Ser630Pro) c.-136T>C (n.-136T>C) | |
| 11 | g.121554083T>G | CA383033927 | SORL1 | c.2413T>G (p.Ser805Ala) c.874T>G (p.Ser292Ala) c.2101T>G (p.Ser701Ala) c.1888T>G (p.Ser630Ala) c.-136T>G (n.-136T>G) | |
| 11 | g.121554084C>A | CA383033928 | SORL1 | c.2414C>A (p.Ser805Tyr) c.875C>A (p.Ser292Tyr) c.2102C>A (p.Ser701Tyr) c.1889C>A (p.Ser630Tyr) c.-135C>A (n.-135C>A) | gnomAD v4 |
| 11 | g.121554084C= | CA2004917323 | SORL1 | c.2414C= (p.Ser805=) c.875C= (p.Ser292=) c.2102C= (p.Ser701=) c.1889C= (p.Ser630=) c.-135C= (n.-135C=) | |
| 11 | g.121554084C>G | CA383033929 | SORL1 | c.2414C>G (p.Ser805Cys) c.875C>G (p.Ser292Cys) c.2102C>G (p.Ser701Cys) c.1889C>G (p.Ser630Cys) c.-135C>G (n.-135C>G) | |
| 11 | g.121554084C>T | CA6328928 | SORL1 | c.2414C>T (p.Ser805Phe) c.875C>T (p.Ser292Phe) c.2102C>T (p.Ser701Phe) c.1889C>T (p.Ser630Phe) c.-135C>T (n.-135C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121554085C>A | CA477218695 | SORL1 | c.2415C>A (p.Ser805=) c.876C>A (p.Ser292=) c.2103C>A (p.Ser701=) c.1890C>A (p.Ser630=) c.-134C>A (n.-134C>A) | |
| 11 | g.121554085C= | CA2004917324 | SORL1 | c.2415C= (p.Ser805=) c.876C= (p.Ser292=) c.2103C= (p.Ser701=) c.1890C= (p.Ser630=) c.-134C= (n.-134C=) | |
| 11 | g.121554085C>G | CA477218696 | SORL1 | c.2415C>G (p.Ser805=) c.876C>G (p.Ser292=) c.2103C>G (p.Ser701=) c.1890C>G (p.Ser630=) c.-134C>G (n.-134C>G) | |
| 11 | g.121554085C>T | CA6328929 | SORL1 | c.2415C>T (p.Ser805=) c.876C>T (p.Ser292=) c.2103C>T (p.Ser701=) c.1890C>T (p.Ser630=) c.-134C>T (n.-134C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.121554086G>A | CA383033930 | SORL1 | c.2416G>A (p.Asp806Asn) c.877G>A (p.Asp293Asn) c.2104G>A (p.Asp702Asn) c.1891G>A (p.Asp631Asn) c.-133G>A (n.-133G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121554086G>C | CA383033931 | SORL1 | c.2416G>C (p.Asp806His) c.877G>C (p.Asp293His) c.2104G>C (p.Asp702His) c.1891G>C (p.Asp631His) c.-133G>C (n.-133G>C) | |
| 11 | g.121554086G= | CA2004917325 | SORL1 | c.2416G= (p.Asp806=) c.877G= (p.Asp293=) c.2104G= (p.Asp702=) c.1891G= (p.Asp631=) c.-133G= (n.-133G=) | |
| 11 | g.121554086G>T | CA383033932 | SORL1 | c.2416G>T (p.Asp806Tyr) c.877G>T (p.Asp293Tyr) c.2104G>T (p.Asp702Tyr) c.1891G>T (p.Asp631Tyr) c.-133G>T (n.-133G>T) | |
| 11 | g.121554087A>C | CA383033933 | SORL1 | c.2417A>C (p.Asp806Ala) c.878A>C (p.Asp293Ala) c.2105A>C (p.Asp702Ala) c.1892A>C (p.Asp631Ala) c.-132A>C (n.-132A>C) | |
| 11 | g.121554087A>G | CA383033934 | SORL1 | c.2417A>G (p.Asp806Gly) c.878A>G (p.Asp293Gly) c.2105A>G (p.Asp702Gly) c.1892A>G (p.Asp631Gly) c.-132A>G (n.-132A>G) | |
| 11 | g.121554087A>T | CA383033935 | SORL1 | c.2417A>T (p.Asp806Val) c.878A>T (p.Asp293Val) c.2105A>T (p.Asp702Val) c.1892A>T (p.Asp631Val) c.-132A>T (n.-132A>T) | |
| 11 | g.121554088C>A | CA383033937 | SORL1 | c.2418C>A (p.Asp806Glu) c.879C>A (p.Asp293Glu) c.2106C>A (p.Asp702Glu) c.1893C>A (p.Asp631Glu) c.-131C>A (n.-131C>A) | gnomAD v4 |
| 11 | g.121554088C= | CA2004917326 | SORL1 | c.2418C= (p.Asp806=) c.879C= (p.Asp293=) c.2106C= (p.Asp702=) c.1893C= (p.Asp631=) c.-131C= (n.-131C=) | |
| 11 | g.121554088C>G | CA383033936 | SORL1 | c.2418C>G (p.Asp806Glu) c.879C>G (p.Asp293Glu) c.2106C>G (p.Asp702Glu) c.1893C>G (p.Asp631Glu) c.-131C>G (n.-131C>G) | |
| 11 | g.121554088C>T | CA477218697 | SORL1 | c.2418C>T (p.Asp806=) c.879C>T (p.Asp293=) c.2106C>T (p.Asp702=) c.1893C>T (p.Asp631=) c.-131C>T (n.-131C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121554089C>A | CA383033938 | SORL1 | c.2419C>A (p.Leu807Met) c.880C>A (p.Leu294Met) c.2107C>A (p.Leu703Met) c.1894C>A (p.Leu632Met) c.-130C>A (n.-130C>A) | |
| 11 | g.121554089C>G | CA383033939 | SORL1 | c.2419C>G (p.Leu807Val) c.880C>G (p.Leu294Val) c.2107C>G (p.Leu703Val) c.1894C>G (p.Leu632Val) c.-130C>G (n.-130C>G) | |
| 11 | g.121554089C>T | CA477218698 | SORL1 | c.2419C>T (p.Leu807=) c.880C>T (p.Leu294=) c.2107C>T (p.Leu703=) c.1894C>T (p.Leu632=) c.-130C>T (n.-130C>T) | |
| 11 | g.121554090T>A | CA383033940 | SORL1 | c.2420T>A (p.Leu807Gln) c.881T>A (p.Leu294Gln) c.2108T>A (p.Leu703Gln) c.1895T>A (p.Leu632Gln) c.-129T>A (n.-129T>A) | |
| 11 | g.121554090T>C | CA383033942 | SORL1 | c.2420T>C (p.Leu807Pro) c.881T>C (p.Leu294Pro) c.2108T>C (p.Leu703Pro) c.1895T>C (p.Leu632Pro) c.-129T>C (n.-129T>C) | gnomAD v4 |
| 11 | g.121554090T>G | CA383033941 | SORL1 | c.2420T>G (p.Leu807Arg) c.881T>G (p.Leu294Arg) c.2108T>G (p.Leu703Arg) c.1895T>G (p.Leu632Arg) c.-129T>G (n.-129T>G) | |
| 11 | g.121554091G>A | CA477218699 | SORL1 | c.2421G>A (p.Leu807=) c.882G>A (p.Leu294=) c.2109G>A (p.Leu703=) c.1896G>A (p.Leu632=) c.-128G>A (n.-128G>A) | |
| 11 | g.121554091G>C | CA477218700 | SORL1 | c.2421G>C (p.Leu807=) c.882G>C (p.Leu294=) c.2109G>C (p.Leu703=) c.1896G>C (p.Leu632=) c.-128G>C (n.-128G>C) | |
| 11 | g.121554091G>T | CA477218701 | SORL1 | c.2421G>T (p.Leu807=) c.882G>T (p.Leu294=) c.2109G>T (p.Leu703=) c.1896G>T (p.Leu632=) c.-128G>T (n.-128G>T) | |
| 11 | g.121554092G>A | CA383033943 | SORL1 | c.2422G>A (p.Ala808Thr) c.883G>A (p.Ala295Thr) c.2110G>A (p.Ala704Thr) c.1897G>A (p.Ala633Thr) c.-127G>A (n.-127G>A) | |
| 11 | g.121554092G>C | CA383033944 | SORL1 | c.2422G>C (p.Ala808Pro) c.883G>C (p.Ala295Pro) c.2110G>C (p.Ala704Pro) c.1897G>C (p.Ala633Pro) c.-127G>C (n.-127G>C) | |
| 11 | g.121554092G>T | CA383033945 | SORL1 | c.2422G>T (p.Ala808Ser) c.883G>T (p.Ala295Ser) c.2110G>T (p.Ala704Ser) c.1897G>T (p.Ala633Ser) c.-127G>T (n.-127G>T) |