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 |
|---|---|---|---|---|---|
| 15 | g.89206897_89214258del | CA645509196 | ClinVar | ||
| 15 | g.89211750A= | CA2194510183 | RLBP1 | c.677T= (p.Met226=) c.94T= c.*255T= (n.*255T=) c.602T= (p.Met201=) c.704T= (p.Met235=) | |
| 15 | g.89211750A>C | CA393728975 | RLBP1 | c.677T>G (p.Met226Arg) c.94T>G c.*255T>G (n.*255T>G) c.602T>G (p.Met201Arg) c.704T>G (p.Met235Arg) | gnomAD v4 |
| 15 | g.89211750A>G | CA393728976 | RLBP1 | c.677T>C (p.Met226Thr) c.94T>C c.*255T>C (n.*255T>C) c.602T>C (p.Met201Thr) c.704T>C (p.Met235Thr) | gnomAD v4 |
| 15 | g.89211750A>T | CA122840 | RLBP1 | c.677T>A (p.Met226Lys) c.94T>A c.*255T>A (n.*255T>A) c.602T>A (p.Met201Lys) c.704T>A (p.Met235Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211751T>A | CA393728977 | RLBP1 | c.676A>T (p.Met226Leu) c.93A>T c.*254A>T (n.*254A>T) c.601A>T (p.Met201Leu) c.703A>T (p.Met235Leu) | |
| 15 | g.89211751T>C | CA393728979 | RLBP1 | c.676A>G (p.Met226Val) c.93A>G c.*254A>G (n.*254A>G) c.601A>G (p.Met201Val) c.703A>G (p.Met235Val) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89211751T>G | CA393728978 | RLBP1 | c.676A>C (p.Met226Leu) c.93A>C c.*254A>C (n.*254A>C) c.601A>C (p.Met201Leu) c.703A>C (p.Met235Leu) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89211751T= | CA2194510188 | RLBP1 | c.676A= (p.Met226=) c.93A= c.*254A= (n.*254A=) c.601A= (p.Met201=) c.703A= (p.Met235=) | |
| 15 | g.89211752G>A | CA492075852 | RLBP1 | c.675C>T (p.Asp225=) c.92C>T c.*253C>T (n.*253C>T) c.600C>T (p.Asp200=) c.702C>T (p.Asp234=) | gnomAD v4 |
| 15 | g.89211752G>C | CA393728980 | RLBP1 | c.675C>G (p.Asp225Glu) c.92C>G c.*253C>G (n.*253C>G) c.600C>G (p.Asp200Glu) c.702C>G (p.Asp234Glu) | |
| 15 | g.89211752G>T | CA393728981 | RLBP1 | c.675C>A (p.Asp225Glu) c.92C>A c.*253C>A (n.*253C>A) c.600C>A (p.Asp200Glu) c.702C>A (p.Asp234Glu) | |
| 15 | g.89211753T>A | CA393728982 | RLBP1 | c.674A>T (p.Asp225Val) c.91A>T c.*252A>T (n.*252A>T) c.599A>T (p.Asp200Val) c.701A>T (p.Asp234Val) | |
| 15 | g.89211753T>C | CA393728983 | RLBP1 | c.674A>G (p.Asp225Gly) c.91A>G c.*252A>G (n.*252A>G) c.599A>G (p.Asp200Gly) c.701A>G (p.Asp234Gly) | |
| 15 | g.89211753T>G | CA393728984 | RLBP1 | c.674A>C (p.Asp225Ala) c.91A>C c.*252A>C (n.*252A>C) c.599A>C (p.Asp200Ala) c.701A>C (p.Asp234Ala) | |
| 15 | g.89211754C>A | CA393728986 | RLBP1 | c.673G>T (p.Asp225Tyr) c.90G>T c.*251G>T (n.*251G>T) c.598G>T (p.Asp200Tyr) c.700G>T (p.Asp234Tyr) | |
| 15 | g.89211754C>G | CA393728987 | RLBP1 | c.673G>C (p.Asp225His) c.90G>C c.*251G>C (n.*251G>C) c.598G>C (p.Asp200His) c.700G>C (p.Asp234His) | |
| 15 | g.89211754C>T | CA393728985 | RLBP1 | c.673G>A (p.Asp225Asn) c.90G>A c.*251G>A (n.*251G>A) c.598G>A (p.Asp200Asn) c.700G>A (p.Asp234Asn) | |
| 15 | g.89211755C>A | CA492075866 | RLBP1 | c.672G>T (p.Val224=) c.89G>T c.*250G>T (n.*250G>T) c.597G>T (p.Val199=) c.699G>T (p.Val233=) | |
| 15 | g.89211755C>G | CA492075869 | RLBP1 | c.672G>C (p.Val224=) c.89G>C c.*250G>C (n.*250G>C) c.597G>C (p.Val199=) c.699G>C (p.Val233=) | |
| 15 | g.89211755C>T | CA492075867 | RLBP1 | c.672G>A (p.Val224=) c.89G>A c.*250G>A (n.*250G>A) c.597G>A (p.Val199=) c.699G>A (p.Val233=) | |
| 15 | g.89211756A>C | CA393728989 | RLBP1 | c.671T>G (p.Val224Gly) c.88T>G c.*249T>G (n.*249T>G) c.596T>G (p.Val199Gly) c.698T>G (p.Val233Gly) | gnomAD v4 |
| 15 | g.89211756A>G | CA393728988 | RLBP1 | c.671T>C (p.Val224Ala) c.88T>C c.*249T>C (n.*249T>C) c.596T>C (p.Val199Ala) c.698T>C (p.Val233Ala) | |
| 15 | g.89211756A>T | CA393728990 | RLBP1 | c.671T>A (p.Val224Glu) c.88T>A c.*249T>A (n.*249T>A) c.596T>A (p.Val199Glu) c.698T>A (p.Val233Glu) | |
| 15 | g.89211757C>A | CA393728991 | RLBP1 | c.670G>T (p.Val224Leu) c.87G>T c.*248G>T (n.*248G>T) c.595G>T (p.Val199Leu) c.697G>T (p.Val233Leu) | |
| 15 | g.89211757C>G | CA393728992 | RLBP1 | c.670G>C (p.Val224Leu) c.87G>C c.*248G>C (n.*248G>C) c.595G>C (p.Val199Leu) c.697G>C (p.Val233Leu) | ClinVar |
| 15 | g.89211757C>T | CA393728993 | RLBP1 | c.670G>A (p.Val224Met) c.87G>A c.*248G>A (n.*248G>A) c.595G>A (p.Val199Met) c.697G>A (p.Val233Met) | gnomAD v4 |
| 15 | g.89211758C>A | CA393728994 | RLBP1 | c.669G>T (p.Met223Ile) c.86G>T c.*247G>T (n.*247G>T) c.594G>T (p.Met198Ile) c.696G>T (p.Met232Ile) | |
| 15 | g.89211758C>G | CA393728995 | RLBP1 | c.669G>C (p.Met223Ile) c.86G>C c.*247G>C (n.*247G>C) c.594G>C (p.Met198Ile) c.696G>C (p.Met232Ile) | |
| 15 | g.89211758C>T | CA393728996 | RLBP1 | c.669G>A (p.Met223Ile) c.86G>A c.*247G>A (n.*247G>A) c.594G>A (p.Met198Ile) c.696G>A (p.Met232Ile) | |
| 15 | g.89211759A>C | CA393728999 | RLBP1 | c.668T>G (p.Met223Arg) c.85T>G c.*246T>G (n.*246T>G) c.593T>G (p.Met198Arg) c.695T>G (p.Met232Arg) | |
| 15 | g.89211759A>G | CA393728997 | RLBP1 | c.668T>C (p.Met223Thr) c.85T>C c.*246T>C (n.*246T>C) c.593T>C (p.Met198Thr) c.695T>C (p.Met232Thr) | gnomAD v4 |
| 15 | g.89211759A>T | CA393728998 | RLBP1 | c.668T>A (p.Met223Lys) c.85T>A c.*246T>A (n.*246T>A) c.593T>A (p.Met198Lys) c.695T>A (p.Met232Lys) | |
| 15 | g.89211760T>A | CA393729000 | RLBP1 | c.667A>T (p.Met223Leu) c.84A>T c.*245A>T (n.*245A>T) c.592A>T (p.Met198Leu) c.694A>T (p.Met232Leu) | |
| 15 | g.89211760T>C | CA393729001 | RLBP1 | c.667A>G (p.Met223Val) c.84A>G c.*245A>G (n.*245A>G) c.592A>G (p.Met198Val) c.694A>G (p.Met232Val) | gnomAD v4 |
| 15 | g.89211760T>G | CA393729002 | RLBP1 | c.667A>C (p.Met223Leu) c.84A>C c.*245A>C (n.*245A>C) c.592A>C (p.Met198Leu) c.694A>C (p.Met232Leu) | |
| 15 | g.89211761C>A | CA393729003 | RLBP1 | c.666G>T (p.Lys222Asn) c.83G>T c.*244G>T (n.*244G>T) c.591G>T (p.Lys197Asn) c.693G>T (p.Lys231Asn) | |
| 15 | g.89211761C>G | CA393729004 | RLBP1 | c.666G>C (p.Lys222Asn) c.83G>C c.*244G>C (n.*244G>C) c.591G>C (p.Lys197Asn) c.693G>C (p.Lys231Asn) | |
| 15 | g.89211761C>T | CA492075895 | RLBP1 | c.666G>A (p.Lys222=) c.83G>A c.*244G>A (n.*244G>A) c.591G>A (p.Lys197=) c.693G>A (p.Lys231=) | |
| 15 | g.89211762T>A | CA393729005 | RLBP1 | c.665A>T (p.Lys222Met) c.82A>T c.*243A>T (n.*243A>T) c.590A>T (p.Lys197Met) c.692A>T (p.Lys231Met) | |
| 15 | g.89211762T>C | CA393729007 | RLBP1 | c.665A>G (p.Lys222Arg) c.82A>G c.*243A>G (n.*243A>G) c.590A>G (p.Lys197Arg) c.692A>G (p.Lys231Arg) | |
| 15 | g.89211762T>G | CA393729006 | RLBP1 | c.665A>C (p.Lys222Thr) c.82A>C c.*243A>C (n.*243A>C) c.590A>C (p.Lys197Thr) c.692A>C (p.Lys231Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89211762T= | CA2194510192 | RLBP1 | c.665A= (p.Lys222=) c.82A= c.*243A= (n.*243A=) c.590A= (p.Lys197=) c.692A= (p.Lys231=) | |
| 15 | g.89211763T>A | CA393729008 | RLBP1 | c.664A>T (p.Lys222Ter) c.81A>T c.*242A>T (n.*242A>T) c.589A>T (p.Lys197Ter) c.691A>T (p.Lys231Ter) | |
| 15 | g.89211763T>C | CA393729009 | RLBP1 | c.664A>G (p.Lys222Glu) c.81A>G c.*242A>G (n.*242A>G) c.589A>G (p.Lys197Glu) c.691A>G (p.Lys231Glu) | |
| 15 | g.89211763T>G | CA393729010 | RLBP1 | c.664A>C (p.Lys222Gln) c.81A>C c.*242A>C (n.*242A>C) c.589A>C (p.Lys197Gln) c.691A>C (p.Lys231Gln) | |
| 15 | g.89211764C>A | CA393729011 | RLBP1 | c.663G>T (p.Arg221Ser) c.80G>T c.*241G>T (n.*241G>T) c.588G>T (p.Arg196Ser) c.690G>T (p.Arg230Ser) | |
| 15 | g.89211764C>G | CA393729012 | RLBP1 | c.663G>C (p.Arg221Ser) c.80G>C c.*241G>C (n.*241G>C) c.588G>C (p.Arg196Ser) c.690G>C (p.Arg230Ser) | |
| 15 | g.89211764C>T | CA492075904 | RLBP1 | c.663G>A (p.Arg221=) c.80G>A c.*241G>A (n.*241G>A) c.588G>A (p.Arg196=) c.690G>A (p.Arg230=) | |
| 15 | g.89211765C>A | CA393729013 | RLBP1 | c.662G>T (p.Arg221Met) c.79G>T c.*240G>T (n.*240G>T) c.587G>T (p.Arg196Met) c.689G>T (p.Arg230Met) |