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.121162089G>A | CA383031211 | TBCEL-TECTA,TECTA | c.4991G>A (p.Ser1664Asn) c.4977-1G>A (n.4977-1G>A) c.2284-1G>A n.913-1G>A c.5934-1G>A (n.5934-1G>A) | gnomAD v4 COSMIC |
| 11 | g.121162089G>C | CA383031213 | TBCEL-TECTA,TECTA | c.4991G>C (p.Ser1664Thr) c.4977-1G>C (n.4977-1G>C) c.2284-1G>C n.913-1G>C c.5934-1G>C (n.5934-1G>C) | |
| 11 | g.121162089G>T | CA383031212 | TBCEL-TECTA,TECTA | c.4991G>T (p.Ser1664Ile) c.4977-1G>T (n.4977-1G>T) c.2284-1G>T n.913-1G>T c.5934-1G>T (n.5934-1G>T) | COSMIC |
| 11 | g.121162090C>A | CA383031216 | TBCEL-TECTA,TECTA | c.4992C>A (p.Ser1664Arg) c.4977C>A (p.Ser1659Arg) c.2284C>A n.913C>A c.5934C>A (p.Ser1978Arg) | |
| 11 | g.121162090C>G | CA383031223 | TBCEL-TECTA,TECTA | c.4992C>G (p.Ser1664Arg) c.4977C>G (p.Ser1659Arg) c.2284C>G n.913C>G c.5934C>G (p.Ser1978Arg) | |
| 11 | g.121162090C>T | CA477384118 | TBCEL-TECTA,TECTA | c.4992C>T (p.Ser1664=) c.4977C>T (p.Ser1659=) c.2284C>T n.913C>T c.5934C>T (p.Ser1978=) | |
| 11 | g.121162091T>A | CA383031226 | TBCEL-TECTA,TECTA | c.4993T>A (p.Cys1665Ser) c.4978T>A (p.Cys1660Ser) c.2285T>A n.914T>A c.5935T>A (p.Cys1979Ser) | |
| 11 | g.121162091T>C | CA383031230 | TBCEL-TECTA,TECTA | c.4993T>C (p.Cys1665Arg) c.4978T>C (p.Cys1660Arg) c.2285T>C n.914T>C c.5935T>C (p.Cys1979Arg) | |
| 11 | g.121162091T>G | CA383031234 | TBCEL-TECTA,TECTA | c.4993T>G (p.Cys1665Gly) c.4978T>G (p.Cys1660Gly) c.2285T>G n.914T>G c.5935T>G (p.Cys1979Gly) | |
| 11 | g.121162092G>A | CA383031236 | TBCEL-TECTA,TECTA | c.4994G>A (p.Cys1665Tyr) c.4979G>A (p.Cys1660Tyr) c.2286G>A n.915G>A c.5936G>A (p.Cys1979Tyr) | ClinVar dbSNP |
| 11 | g.121162092G>C | CA383031244 | TBCEL-TECTA,TECTA | c.4994G>C (p.Cys1665Ser) c.4979G>C (p.Cys1660Ser) c.2286G>C n.915G>C c.5936G>C (p.Cys1979Ser) | |
| 11 | g.121162092G>T | CA383031246 | TBCEL-TECTA,TECTA | c.4994G>T (p.Cys1665Phe) c.4979G>T (p.Cys1660Phe) c.2286G>T n.915G>T c.5936G>T (p.Cys1979Phe) | |
| 11 | g.121162093C>A | CA383031255 | TBCEL-TECTA,TECTA | c.4995C>A (p.Cys1665Ter) c.4980C>A (p.Cys1660Ter) c.2287C>A n.916C>A c.5937C>A (p.Cys1979Ter) | |
| 11 | g.121162093C>G | CA383031256 | TBCEL-TECTA,TECTA | c.4995C>G (p.Cys1665Trp) c.4980C>G (p.Cys1660Trp) c.2287C>G n.916C>G c.5937C>G (p.Cys1979Trp) | |
| 11 | g.121162093C>T | CA477384119 | TBCEL-TECTA,TECTA | c.4995C>T (p.Cys1665=) c.4980C>T (p.Cys1660=) c.2287C>T n.916C>T c.5937C>T (p.Cys1979=) | gnomAD v4 |
| 11 | g.121162094A= | CA2004742838 | TBCEL-TECTA,TECTA | c.4996A= (p.Asn1666=) c.4981A= (p.Asn1661=) c.2288A= n.917A= c.5938A= (p.Asn1980=) | |
| 11 | g.121162094A>C | CA383031260 | TBCEL-TECTA,TECTA | c.4996A>C (p.Asn1666His) c.4981A>C (p.Asn1661His) c.2288A>C n.917A>C c.5938A>C (p.Asn1980His) | |
| 11 | g.121162094A>G | CA6327638 | TBCEL-TECTA,TECTA | c.4996A>G (p.Asn1666Asp) c.4981A>G (p.Asn1661Asp) c.2288A>G n.917A>G c.5938A>G (p.Asn1980Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121162094A>T | CA383031263 | TBCEL-TECTA,TECTA | c.4996A>T (p.Asn1666Tyr) c.4981A>T (p.Asn1661Tyr) c.2288A>T n.917A>T c.5938A>T (p.Asn1980Tyr) | |
| 11 | g.121162095A= | CA2004742848 | TBCEL-TECTA,TECTA | c.4997A= (p.Asn1666=) c.4982A= (p.Asn1661=) c.2289A= n.918A= c.5939A= (p.Asn1980=) | |
| 11 | g.121162095A>C | CA383031272 | TBCEL-TECTA,TECTA | c.4997A>C (p.Asn1666Thr) c.4982A>C (p.Asn1661Thr) c.2289A>C n.918A>C c.5939A>C (p.Asn1980Thr) | |
| 11 | g.121162095A>G | CA383031276 | TBCEL-TECTA,TECTA | c.4997A>G (p.Asn1666Ser) c.4982A>G (p.Asn1661Ser) c.2289A>G n.918A>G c.5939A>G (p.Asn1980Ser) | dbSNP gnomAD v4 |
| 11 | g.121162095A>T | CA383031275 | TBCEL-TECTA,TECTA | c.4997A>T (p.Asn1666Ile) c.4982A>T (p.Asn1661Ile) c.2289A>T n.918A>T c.5939A>T (p.Asn1980Ile) | |
| 11 | g.121162096C>A | CA383031277 | TBCEL-TECTA,TECTA | c.4998C>A (p.Asn1666Lys) c.4983C>A (p.Asn1661Lys) c.2290C>A n.919C>A c.5940C>A (p.Asn1980Lys) | |
| 11 | g.121162096C= | CA2004742853 | TBCEL-TECTA,TECTA | c.4998C= (p.Asn1666=) c.4983C= (p.Asn1661=) c.2290C= n.919C= c.5940C= (p.Asn1980=) | |
| 11 | g.121162096C>G | CA383031280 | TBCEL-TECTA,TECTA | c.4998C>G (p.Asn1666Lys) c.4983C>G (p.Asn1661Lys) c.2290C>G n.919C>G c.5940C>G (p.Asn1980Lys) | gnomAD v4 |
| 11 | g.121162096C>T | CA6327639 | TBCEL-TECTA,TECTA | c.4998C>T (p.Asn1666=) c.4983C>T (p.Asn1661=) c.2290C>T n.919C>T c.5940C>T (p.Asn1980=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.121162097G>A | CA6327640 | TBCEL-TECTA,TECTA | c.4999G>A (p.Glu1667Lys) c.4984G>A (p.Glu1662Lys) c.2291G>A n.920G>A c.5941G>A (p.Glu1981Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121162097G>C | CA383031293 | TBCEL-TECTA,TECTA | c.4999G>C (p.Glu1667Gln) c.4984G>C (p.Glu1662Gln) c.2291G>C n.920G>C c.5941G>C (p.Glu1981Gln) | |
| 11 | g.121162097G= | CA2004742859 | TBCEL-TECTA,TECTA | c.4999G= (p.Glu1667=) c.4984G= (p.Glu1662=) c.2291G= n.920G= c.5941G= (p.Glu1981=) | |
| 11 | g.121162097G>T | CA383031296 | TBCEL-TECTA,TECTA | c.4999G>T (p.Glu1667Ter) c.4984G>T (p.Glu1662Ter) c.2291G>T n.920G>T c.5941G>T (p.Glu1981Ter) | |
| 11 | g.121162098A= | CA2004742867 | TBCEL-TECTA,TECTA | c.5000A= (p.Glu1667=) c.4985A= (p.Glu1662=) c.2292A= n.921A= c.5942A= (p.Glu1981=) | |
| 11 | g.121162098A>C | CA383031299 | TBCEL-TECTA,TECTA | c.5000A>C (p.Glu1667Ala) c.4985A>C (p.Glu1662Ala) c.2292A>C n.921A>C c.5942A>C (p.Glu1981Ala) | gnomAD v4 |
| 11 | g.121162098A>G | CA6327641 | TBCEL-TECTA,TECTA | c.5000A>G (p.Glu1667Gly) c.4985A>G (p.Glu1662Gly) c.2292A>G n.921A>G c.5942A>G (p.Glu1981Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121162098A>T | CA383031302 | TBCEL-TECTA,TECTA | c.5000A>T (p.Glu1667Val) c.4985A>T (p.Glu1662Val) c.2292A>T n.921A>T c.5942A>T (p.Glu1981Val) | |
| 11 | g.121162099G>A | CA477384120 | TBCEL-TECTA,TECTA | c.5001G>A (p.Glu1667=) c.4986G>A (p.Glu1662=) c.2293G>A n.922G>A c.5943G>A (p.Glu1981=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121162099G>C | CA383031306 | TBCEL-TECTA,TECTA | c.5001G>C (p.Glu1667Asp) c.4986G>C (p.Glu1662Asp) c.2293G>C n.922G>C c.5943G>C (p.Glu1981Asp) | |
| 11 | g.121162099G= | CA2004742873 | TBCEL-TECTA,TECTA | c.5001G= (p.Glu1667=) c.4986G= (p.Glu1662=) c.2293G= n.922G= c.5943G= (p.Glu1981=) | |
| 11 | g.121162099G>T | CA383031309 | TBCEL-TECTA,TECTA | c.5001G>T (p.Glu1667Asp) c.4986G>T (p.Glu1662Asp) c.2293G>T n.922G>T c.5943G>T (p.Glu1981Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121162100C>A | CA383031312 | TBCEL-TECTA,TECTA | c.5002C>A (p.Leu1668Met) c.4987C>A (p.Leu1663Met) c.2294C>A n.923C>A c.5944C>A (p.Leu1982Met) | |
| 11 | g.121162100C>G | CA383031316 | TBCEL-TECTA,TECTA | c.5002C>G (p.Leu1668Val) c.4987C>G (p.Leu1663Val) c.2294C>G n.923C>G c.5944C>G (p.Leu1982Val) | |
| 11 | g.121162100C>T | CA477384121 | TBCEL-TECTA,TECTA | c.5002C>T (p.Leu1668=) c.4987C>T (p.Leu1663=) c.2294C>T n.923C>T c.5944C>T (p.Leu1982=) | |
| 11 | g.121162101T>A | CA383031321 | TBCEL-TECTA,TECTA | c.5003T>A (p.Leu1668Gln) c.4988T>A (p.Leu1663Gln) c.2295T>A n.924T>A c.5945T>A (p.Leu1982Gln) | |
| 11 | g.121162101T>C | CA383031331 | TBCEL-TECTA,TECTA | c.5003T>C (p.Leu1668Pro) c.4988T>C (p.Leu1663Pro) c.2295T>C n.924T>C c.5945T>C (p.Leu1982Pro) | |
| 11 | g.121162101T>G | CA383031329 | TBCEL-TECTA,TECTA | c.5003T>G (p.Leu1668Arg) c.4988T>G (p.Leu1663Arg) c.2295T>G n.924T>G c.5945T>G (p.Leu1982Arg) | |
| 11 | g.121162102G>A | CA477384124 | TBCEL-TECTA,TECTA | c.5004G>A (p.Leu1668=) c.4989G>A (p.Leu1663=) c.2296G>A n.925G>A c.5946G>A (p.Leu1982=) | dbSNP |
| 11 | g.121162102G>C | CA477384123 | TBCEL-TECTA,TECTA | c.5004G>C (p.Leu1668=) c.4989G>C (p.Leu1663=) c.2296G>C n.925G>C c.5946G>C (p.Leu1982=) | |
| 11 | g.121162102G= | CA2004742880 | TBCEL-TECTA,TECTA | c.5004G= (p.Leu1668=) c.4989G= (p.Leu1663=) c.2296G= n.925G= c.5946G= (p.Leu1982=) | |
| 11 | g.121162102G>T | CA477384122 | TBCEL-TECTA,TECTA | c.5004G>T (p.Leu1668=) c.4989G>T (p.Leu1663=) c.2296G>T n.925G>T c.5946G>T (p.Leu1982=) | |
| 11 | g.121162103C>A | CA383031332 | TBCEL-TECTA,TECTA | c.5005C>A (p.Gln1669Lys) c.4990C>A (p.Gln1664Lys) c.2297C>A n.926C>A c.5947C>A (p.Gln1983Lys) |