WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.121168867T>A | CA16605870 | TBCEL-TECTA,TECTA | c.5941T>A (p.Tyr1981Asn) c.5926T>A (p.Tyr1976Asn) c.3233T>A n.2321T>A c.6883T>A (p.Tyr2295Asn) | ClinVar dbSNP |
| 11 | g.121168867T>C | CA383036960 | TBCEL-TECTA,TECTA | c.5941T>C (p.Tyr1981His) c.5926T>C (p.Tyr1976His) c.3233T>C n.2321T>C c.6883T>C (p.Tyr2295His) | |
| 11 | g.121168867T>G | CA383036959 | TBCEL-TECTA,TECTA | c.5941T>G (p.Tyr1981Asp) c.5926T>G (p.Tyr1976Asp) c.3233T>G n.2321T>G c.6883T>G (p.Tyr2295Asp) | |
| 11 | g.121168867T= | CA2004752650 | TBCEL-TECTA,TECTA | c.5941T= (p.Tyr1981=) c.5926T= (p.Tyr1976=) c.3233T= n.2321T= c.6883T= (p.Tyr2295=) | |
| 11 | g.121168868A>C | CA383036961 | TBCEL-TECTA,TECTA | c.5942A>C (p.Tyr1981Ser) c.5927A>C (p.Tyr1976Ser) c.3234A>C n.2322A>C c.6884A>C (p.Tyr2295Ser) | |
| 11 | g.121168868A>G | CA383036962 | TBCEL-TECTA,TECTA | c.5942A>G (p.Tyr1981Cys) c.5927A>G (p.Tyr1976Cys) c.3234A>G n.2322A>G c.6884A>G (p.Tyr2295Cys) | ClinVar dbSNP |
| 11 | g.121168868A>T | CA383036963 | TBCEL-TECTA,TECTA | c.5942A>T (p.Tyr1981Phe) c.5927A>T (p.Tyr1976Phe) c.3234A>T n.2322A>T c.6884A>T (p.Tyr2295Phe) | |
| 11 | g.121168869T>A | CA383036964 | TBCEL-TECTA,TECTA | c.5943T>A (p.Tyr1981Ter) c.5928T>A (p.Tyr1976Ter) c.3235T>A n.2323T>A c.6885T>A (p.Tyr2295Ter) | |
| 11 | g.121168869T>C | CA477383693 | TBCEL-TECTA,TECTA | c.5943T>C (p.Tyr1981=) c.5928T>C (p.Tyr1976=) c.3235T>C n.2323T>C c.6885T>C (p.Tyr2295=) | |
| 11 | g.121168869T>G | CA383036965 | TBCEL-TECTA,TECTA | c.5943T>G (p.Tyr1981Ter) c.5928T>G (p.Tyr1976Ter) c.3235T>G n.2323T>G c.6885T>G (p.Tyr2295Ter) | |
| 11 | g.121168870G>A | CA383036966 | TBCEL-TECTA,TECTA | c.5944G>A (p.Ala1982Thr) c.5929G>A (p.Ala1977Thr) c.3236G>A n.2324G>A c.6886G>A (p.Ala2296Thr) | |
| 11 | g.121168870G>C | CA383036967 | TBCEL-TECTA,TECTA | c.5944G>C (p.Ala1982Pro) c.5929G>C (p.Ala1977Pro) c.3236G>C n.2324G>C c.6886G>C (p.Ala2296Pro) | |
| 11 | g.121168870G>T | CA383036968 | TBCEL-TECTA,TECTA | c.5944G>T (p.Ala1982Ser) c.5929G>T (p.Ala1977Ser) c.3236G>T n.2324G>T c.6886G>T (p.Ala2296Ser) | |
| 11 | g.121168871C>A | CA383036969 | TBCEL-TECTA,TECTA | c.5945C>A (p.Ala1982Asp) c.5930C>A (p.Ala1977Asp) c.3237C>A n.2325C>A c.6887C>A (p.Ala2296Asp) | |
| 11 | g.121168871C>G | CA383036970 | TBCEL-TECTA,TECTA | c.5945C>G (p.Ala1982Gly) c.5930C>G (p.Ala1977Gly) c.3237C>G n.2325C>G c.6887C>G (p.Ala2296Gly) | |
| 11 | g.121168871C>T | CA383036971 | TBCEL-TECTA,TECTA | c.5945C>T (p.Ala1982Val) c.5930C>T (p.Ala1977Val) c.3237C>T n.2325C>T c.6887C>T (p.Ala2296Val) | |
| 11 | g.121168872C>A | CA477383696 | TBCEL-TECTA,TECTA | c.5946C>A (p.Ala1982=) c.5931C>A (p.Ala1977=) c.3238C>A n.2326C>A c.6888C>A (p.Ala2296=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121168872C= | CA2004752656 | TBCEL-TECTA,TECTA | c.5946C= (p.Ala1982=) c.5931C= (p.Ala1977=) c.3238C= n.2326C= c.6888C= (p.Ala2296=) | |
| 11 | g.121168872C>G | CA477383697 | TBCEL-TECTA,TECTA | c.5946C>G (p.Ala1982=) c.5931C>G (p.Ala1977=) c.3238C>G n.2326C>G c.6888C>G (p.Ala2296=) | |
| 11 | g.121168872C>T | CA477383695 | TBCEL-TECTA,TECTA | c.5946C>T (p.Ala1982=) c.5931C>T (p.Ala1977=) c.3238C>T n.2326C>T c.6888C>T (p.Ala2296=) | |
| 11 | g.121168873A>C | CA383036973 | TBCEL-TECTA,TECTA | c.5947A>C (p.Thr1983Pro) c.5932A>C (p.Thr1978Pro) c.3239A>C n.2327A>C c.6889A>C (p.Thr2297Pro) | |
| 11 | g.121168873A>G | CA383036974 | TBCEL-TECTA,TECTA | c.5947A>G (p.Thr1983Ala) c.5932A>G (p.Thr1978Ala) c.3239A>G n.2327A>G c.6889A>G (p.Thr2297Ala) | |
| 11 | g.121168873A>T | CA383036972 | TBCEL-TECTA,TECTA | c.5947A>T (p.Thr1983Ser) c.5932A>T (p.Thr1978Ser) c.3239A>T n.2327A>T c.6889A>T (p.Thr2297Ser) | |
| 11 | g.121168874C>A | CA383036975 | TBCEL-TECTA,TECTA | c.5948C>A (p.Thr1983Lys) c.5933C>A (p.Thr1978Lys) c.3240C>A n.2328C>A c.6890C>A (p.Thr2297Lys) | |
| 11 | g.121168874C>G | CA383036976 | TBCEL-TECTA,TECTA | c.5948C>G (p.Thr1983Arg) c.5933C>G (p.Thr1978Arg) c.3240C>G n.2328C>G c.6890C>G (p.Thr2297Arg) | |
| 11 | g.121168874C>T | CA383036977 | TBCEL-TECTA,TECTA | c.5948C>T (p.Thr1983Ile) c.5933C>T (p.Thr1978Ile) c.3240C>T n.2328C>T c.6890C>T (p.Thr2297Ile) | |
| 11 | g.121168875A= | CA2004752660 | TBCEL-TECTA,TECTA | c.5949A= (p.Thr1983=) c.5934A= (p.Thr1978=) c.3241A= n.2329A= c.6891A= (p.Thr2297=) | |
| 11 | g.121168875A>C | CA477383510 | TBCEL-TECTA,TECTA | c.5949A>C (p.Thr1983=) c.5934A>C (p.Thr1978=) c.3241A>C n.2329A>C c.6891A>C (p.Thr2297=) | dbSNP |
| 11 | g.121168875A>G | CA477383511 | TBCEL-TECTA,TECTA | c.5949A>G (p.Thr1983=) c.5934A>G (p.Thr1978=) c.3241A>G n.2329A>G c.6891A>G (p.Thr2297=) | |
| 11 | g.121168875A>T | CA477383512 | TBCEL-TECTA,TECTA | c.5949A>T (p.Thr1983=) c.5934A>T (p.Thr1978=) c.3241A>T n.2329A>T c.6891A>T (p.Thr2297=) | |
| 11 | g.121168876C>A | CA383036978 | TBCEL-TECTA,TECTA | c.5950C>A (p.Pro1984Thr) c.5935C>A (p.Pro1979Thr) c.3242C>A n.2330C>A c.6892C>A (p.Pro2298Thr) | |
| 11 | g.121168876C>G | CA383036979 | TBCEL-TECTA,TECTA | c.5950C>G (p.Pro1984Ala) c.5935C>G (p.Pro1979Ala) c.3242C>G n.2330C>G c.6892C>G (p.Pro2298Ala) | |
| 11 | g.121168876C>T | CA383036980 | TBCEL-TECTA,TECTA | c.5950C>T (p.Pro1984Ser) c.5935C>T (p.Pro1979Ser) c.3242C>T n.2330C>T c.6892C>T (p.Pro2298Ser) | |
| 11 | g.121168877C>A | CA383036981 | TBCEL-TECTA,TECTA | c.5951C>A (p.Pro1984His) c.5936C>A (p.Pro1979His) c.3243C>A n.2331C>A c.6893C>A (p.Pro2298His) | |
| 11 | g.121168877C>G | CA383036982 | TBCEL-TECTA,TECTA | c.5951C>G (p.Pro1984Arg) c.5936C>G (p.Pro1979Arg) c.3243C>G n.2331C>G c.6893C>G (p.Pro2298Arg) | |
| 11 | g.121168877C>T | CA383036983 | TBCEL-TECTA,TECTA | c.5951C>T (p.Pro1984Leu) c.5936C>T (p.Pro1979Leu) c.3243C>T n.2331C>T c.6893C>T (p.Pro2298Leu) | |
| 11 | g.121168878C>A | CA477383516 | TBCEL-TECTA,TECTA | c.5952C>A (p.Pro1984=) c.5937C>A (p.Pro1979=) c.3244C>A n.2332C>A c.6894C>A (p.Pro2298=) | |
| 11 | g.121168878C>G | CA477383514 | TBCEL-TECTA,TECTA | c.5952C>G (p.Pro1984=) c.5937C>G (p.Pro1979=) c.3244C>G n.2332C>G c.6894C>G (p.Pro2298=) | |
| 11 | g.121168878C>T | CA477383515 | TBCEL-TECTA,TECTA | c.5952C>T (p.Pro1984=) c.5937C>T (p.Pro1979=) c.3244C>T n.2332C>T c.6894C>T (p.Pro2298=) | |
| 11 | g.121168879A= | CA2004752663 | TBCEL-TECTA,TECTA | c.5953A= (p.Thr1985=) c.5938A= (p.Thr1980=) c.3245A= n.2333A= c.6895A= (p.Thr2299=) | |
| 11 | g.121168879A>C | CA383036984 | TBCEL-TECTA,TECTA | c.5953A>C (p.Thr1985Pro) c.5938A>C (p.Thr1980Pro) c.3245A>C n.2333A>C c.6895A>C (p.Thr2299Pro) | dbSNP |
| 11 | g.121168879A>G | CA383036985 | TBCEL-TECTA,TECTA | c.5953A>G (p.Thr1985Ala) c.5938A>G (p.Thr1980Ala) c.3245A>G n.2333A>G c.6895A>G (p.Thr2299Ala) | |
| 11 | g.121168879A>T | CA383036986 | TBCEL-TECTA,TECTA | c.5953A>T (p.Thr1985Ser) c.5938A>T (p.Thr1980Ser) c.3245A>T n.2333A>T c.6895A>T (p.Thr2299Ser) | |
| 11 | g.121168880C>A | CA383036988 | TBCEL-TECTA,TECTA | c.5954C>A (p.Thr1985Asn) c.5939C>A (p.Thr1980Asn) c.3246C>A n.2334C>A c.6896C>A (p.Thr2299Asn) | |
| 11 | g.121168880C>G | CA383036989 | TBCEL-TECTA,TECTA | c.5954C>G (p.Thr1985Ser) c.5939C>G (p.Thr1980Ser) c.3246C>G n.2334C>G c.6896C>G (p.Thr2299Ser) | |
| 11 | g.121168880C>T | CA383036987 | TBCEL-TECTA,TECTA | c.5954C>T (p.Thr1985Ile) c.5939C>T (p.Thr1980Ile) c.3246C>T n.2334C>T c.6896C>T (p.Thr2299Ile) | |
| 11 | g.121168881C>A | CA178117 | TBCEL-TECTA,TECTA | c.5955C>A (p.Thr1985=) c.5940C>A (p.Thr1980=) c.3247C>A n.2335C>A c.6897C>A (p.Thr2299=) | ClinVar dbSNP |
| 11 | g.121168881C= | CA2004752667 | TBCEL-TECTA,TECTA | c.5955C= (p.Thr1985=) c.5940C= (p.Thr1980=) c.3247C= n.2335C= c.6897C= (p.Thr2299=) | |
| 11 | g.121168881C>G | CA477383520 | TBCEL-TECTA,TECTA | c.5955C>G (p.Thr1985=) c.5940C>G (p.Thr1980=) c.3247C>G n.2335C>G c.6897C>G (p.Thr2299=) | |
| 11 | g.121168881C>T | CA477383521 | TBCEL-TECTA,TECTA | c.5955C>T (p.Thr1985=) c.5940C>T (p.Thr1980=) c.3247C>T n.2335C>T c.6897C>T (p.Thr2299=) |