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 |
|---|---|---|---|---|---|
| 8 | g.54626531A>C | CA370994313 | RP1 | c.2649A>C (p.Leu883Phe) c.787+4243A>C (n.787+4243A>C) c.2670A>C (p.Leu890Phe) | |
| 8 | g.54626531A>G | CA461099010 | RP1 | c.2649A>G (p.Leu883=) c.787+4243A>G (n.787+4243A>G) c.2670A>G (p.Leu890=) | |
| 8 | g.54626531A>T | CA370994312 | RP1 | c.2649A>T (p.Leu883Phe) c.787+4243A>T (n.787+4243A>T) c.2670A>T (p.Leu890Phe) | |
| 8 | g.54626532A>C | CA370994314 | RP1 | c.2650A>C (p.Ser884Arg) c.787+4244A>C (n.787+4244A>C) c.2671A>C (p.Ser891Arg) | |
| 8 | g.54626532A>G | CA370994315 | RP1 | c.2650A>G (p.Ser884Gly) c.787+4244A>G (n.787+4244A>G) c.2671A>G (p.Ser891Gly) | |
| 8 | g.54626532A>T | CA370994316 | RP1 | c.2650A>T (p.Ser884Cys) c.787+4244A>T (n.787+4244A>T) c.2671A>T (p.Ser891Cys) | |
| 8 | g.54626533G>A | CA370994317 | RP1 | c.2651G>A (p.Ser884Asn) c.787+4245G>A (n.787+4245G>A) c.2672G>A (p.Ser891Asn) | |
| 8 | g.54626533G>C | CA370994319 | RP1 | c.2651G>C (p.Ser884Thr) c.787+4245G>C (n.787+4245G>C) c.2672G>C (p.Ser891Thr) | |
| 8 | g.54626533G>T | CA370994320 | RP1 | c.2651G>T (p.Ser884Ile) c.787+4245G>T (n.787+4245G>T) c.2672G>T (p.Ser891Ile) | |
| 8 | g.54626534T>A | CA370994321 | RP1 | c.2652T>A (p.Ser884Arg) c.787+4246T>A (n.787+4246T>A) c.2673T>A (p.Ser891Arg) | |
| 8 | g.54626534T>C | CA4751570 | RP1 | c.2652T>C (p.Ser884=) c.787+4246T>C (n.787+4246T>C) c.2673T>C (p.Ser891=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.54626534T>G | CA370994322 | RP1 | c.2652T>G (p.Ser884Arg) c.787+4246T>G (n.787+4246T>G) c.2673T>G (p.Ser891Arg) | dbSNP |
| 8 | g.54626534T= | CA1785188367 | RP1 | c.2652T= (p.Ser884=) c.787+4246T= (n.787+4246T=) c.2673T= (p.Ser891=) | |
| 8 | g.54626535A>C | CA370994323 | RP1 | c.2653A>C (p.Lys885Gln) c.787+4247A>C (n.787+4247A>C) c.2674A>C (p.Lys892Gln) | |
| 8 | g.54626535A>G | CA370994324 | RP1 | c.2653A>G (p.Lys885Glu) c.787+4247A>G (n.787+4247A>G) c.2674A>G (p.Lys892Glu) | |
| 8 | g.54626535A>T | CA370994325 | RP1 | c.2653A>T (p.Lys885Ter) c.787+4247A>T (n.787+4247A>T) c.2674A>T (p.Lys892Ter) | |
| 8 | g.54626536A>C | CA370994326 | RP1 | c.2654A>C (p.Lys885Thr) c.787+4248A>C (n.787+4248A>C) c.2675A>C (p.Lys892Thr) | |
| 8 | g.54626536A>G | CA370994327 | RP1 | c.2654A>G (p.Lys885Arg) c.787+4248A>G (n.787+4248A>G) c.2675A>G (p.Lys892Arg) | |
| 8 | g.54626536A>T | CA370994328 | RP1 | c.2654A>T (p.Lys885Ile) c.787+4248A>T (n.787+4248A>T) c.2675A>T (p.Lys892Ile) | |
| 8 | g.54626537A>C | CA370994329 | RP1 | c.2655A>C (p.Lys885Asn) c.787+4249A>C (n.787+4249A>C) c.2676A>C (p.Lys892Asn) | |
| 8 | g.54626537A>G | CA461099011 | RP1 | c.2655A>G (p.Lys885=) c.787+4249A>G (n.787+4249A>G) c.2676A>G (p.Lys892=) | |
| 8 | g.54626537A>T | CA370994330 | RP1 | c.2655A>T (p.Lys885Asn) c.787+4249A>T (n.787+4249A>T) c.2676A>T (p.Lys892Asn) | |
| 8 | g.54626538C>A | CA370994331 | RP1 | c.2656C>A (p.Gln886Lys) c.787+4250C>A (n.787+4250C>A) c.2677C>A (p.Gln893Lys) | gnomAD v4 COSMIC |
| 8 | g.54626538C= | CA1785188368 | RP1 | c.2656C= (p.Gln886=) c.787+4250C= (n.787+4250C=) c.2677C= (p.Gln893=) | |
| 8 | g.54626538C>G | CA370994332 | RP1 | c.2656C>G (p.Gln886Glu) c.787+4250C>G (n.787+4250C>G) c.2677C>G (p.Gln893Glu) | |
| 8 | g.54626538C>T | CA370994333 | RP1 | c.2656C>T (p.Gln886Ter) c.787+4250C>T (n.787+4250C>T) c.2677C>T (p.Gln893Ter) | ClinVar dbSNP |
| 8 | g.54626539A= | CA1785188369 | RP1 | c.2657A= (p.Gln886=) c.787+4251A= (n.787+4251A=) c.2678A= (p.Gln893=) | |
| 8 | g.54626539A>C | CA370994335 | RP1 | c.2657A>C (p.Gln886Pro) c.787+4251A>C (n.787+4251A>C) c.2678A>C (p.Gln893Pro) | |
| 8 | g.54626539A>G | CA370994336 | RP1 | c.2657A>G (p.Gln886Arg) c.787+4251A>G (n.787+4251A>G) c.2678A>G (p.Gln893Arg) | dbSNP |
| 8 | g.54626539A>T | CA370994334 | RP1 | c.2657A>T (p.Gln886Leu) c.787+4251A>T (n.787+4251A>T) c.2678A>T (p.Gln893Leu) | |
| 8 | g.54626540A= | CA1785188370 | RP1 | c.2658A= (p.Gln886=) c.787+4252A= (n.787+4252A=) c.2679A= (p.Gln893=) | |
| 8 | g.54626540A>C | CA370994338 | RP1 | c.2658A>C (p.Gln886His) c.787+4252A>C (n.787+4252A>C) c.2679A>C (p.Gln893His) | |
| 8 | g.54626540A>G | CA461099012 | RP1 | c.2658A>G (p.Gln886=) c.787+4252A>G (n.787+4252A>G) c.2679A>G (p.Gln893=) | dbSNP |
| 8 | g.54626540A>T | CA370994337 | RP1 | c.2658A>T (p.Gln886His) c.787+4252A>T (n.787+4252A>T) c.2679A>T (p.Gln893His) | |
| 8 | g.54626541C>A | CA370994341 | RP1 | c.2659C>A (p.His887Asn) c.787+4253C>A (n.787+4253C>A) c.2680C>A (p.His894Asn) | |
| 8 | g.54626541C= | CA1785188371 | RP1 | c.2659C= (p.His887=) c.787+4253C= (n.787+4253C=) c.2680C= (p.His894=) | |
| 8 | g.54626541C>G | CA370994339 | RP1 | c.2659C>G (p.His887Asp) c.787+4253C>G (n.787+4253C>G) c.2680C>G (p.His894Asp) | |
| 8 | g.54626541C>T | CA370994340 | RP1 | c.2659C>T (p.His887Tyr) c.787+4253C>T (n.787+4253C>T) c.2680C>T (p.His894Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626542A= | CA1785188372 | RP1 | c.2660A= (p.His887=) c.787+4254A= (n.787+4254A=) c.2681A= (p.His894=) | |
| 8 | g.54626542A>C | CA370994342 | RP1 | c.2660A>C (p.His887Pro) c.787+4254A>C (n.787+4254A>C) c.2681A>C (p.His894Pro) | |
| 8 | g.54626542A>G | CA370994343 | RP1 | c.2660A>G (p.His887Arg) c.787+4254A>G (n.787+4254A>G) c.2681A>G (p.His894Arg) | ClinVar dbSNP |
| 8 | g.54626542A>T | CA370994344 | RP1 | c.2660A>T (p.His887Leu) c.787+4254A>T (n.787+4254A>T) c.2681A>T (p.His894Leu) | ClinVar |
| 8 | g.54626543T>A | CA370994345 | RP1 | c.2661T>A (p.His887Gln) c.787+4255T>A (n.787+4255T>A) c.2682T>A (p.His894Gln) | |
| 8 | g.54626543T>C | CA461099013 | RP1 | c.2661T>C (p.His887=) c.787+4255T>C (n.787+4255T>C) c.2682T>C (p.His894=) | |
| 8 | g.54626543T>G | CA370994346 | RP1 | c.2661T>G (p.His887Gln) c.787+4255T>G (n.787+4255T>G) c.2682T>G (p.His894Gln) | |
| 8 | g.54626544G>A | CA370994347 | RP1 | c.2662G>A (p.Ala888Thr) c.787+4256G>A (n.787+4256G>A) c.2683G>A (p.Ala895Thr) | dbSNP |
| 8 | g.54626544G>C | CA370994348 | RP1 | c.2662G>C (p.Ala888Pro) c.787+4256G>C (n.787+4256G>C) c.2683G>C (p.Ala895Pro) | |
| 8 | g.54626544G= | CA1785188373 | RP1 | c.2662G= (p.Ala888=) c.787+4256G= (n.787+4256G=) c.2683G= (p.Ala895=) | |
| 8 | g.54626544G>T | CA370994349 | RP1 | c.2662G>T (p.Ala888Ser) c.787+4256G>T (n.787+4256G>T) c.2683G>T (p.Ala895Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626545C>A | CA370994350 | RP1 | c.2663C>A (p.Ala888Asp) c.787+4257C>A (n.787+4257C>A) c.2684C>A (p.Ala895Asp) |