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 |
|---|---|---|---|---|---|
| 9 | g.130470877G>A | CA253831 | ASS1 | c.539G>A (p.Ser180Asn) c.482G>A (p.Ser161Asn) n.248G>A n.370G>A c.653G>A (p.Ser218Asn) c.635G>A (p.Ser212Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130470877G>C | CA375227222 | ASS1 | c.539G>C (p.Ser180Thr) c.482G>C (p.Ser161Thr) n.248G>C n.370G>C c.653G>C (p.Ser218Thr) c.635G>C (p.Ser212Thr) | |
| 9 | g.130470877G= | CA1881255886 | ASS1 | c.539G= (p.Ser180=) c.482G= (p.Ser161=) n.248G= n.370G= c.653G= (p.Ser218=) c.635G= (p.Ser212=) | |
| 9 | g.130470877G>T | CA375227223 | ASS1 | c.539G>T (p.Ser180Ile) c.482G>T (p.Ser161Ile) n.248G>T n.370G>T c.653G>T (p.Ser218Ile) c.635G>T (p.Ser212Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130470878C>A | CA375227227 | ASS1 | c.540C>A (p.Ser180Arg) c.483C>A (p.Ser161Arg) n.249C>A n.371C>A c.654C>A (p.Ser218Arg) c.636C>A (p.Ser212Arg) | |
| 9 | g.130470878C>G | CA375227228 | ASS1 | c.540C>G (p.Ser180Arg) c.483C>G (p.Ser161Arg) n.249C>G n.371C>G c.654C>G (p.Ser218Arg) c.636C>G (p.Ser212Arg) | |
| 9 | g.130470878C>T | CA467389203 | ASS1 | c.540C>T (p.Ser180=) c.483C>T (p.Ser161=) n.249C>T n.371C>T c.654C>T (p.Ser218=) c.636C>T (p.Ser212=) | |
| 9 | g.130470879A= | CA1881255887 | ASS1 | c.541A= (p.Met181=) c.484A= (p.Met162=) n.250A= n.372A= c.655A= (p.Met219=) c.637A= (p.Met213=) | |
| 9 | g.130470879A>C | CA375227231 | ASS1 | c.541A>C (p.Met181Leu) c.484A>C (p.Met162Leu) n.250A>C n.372A>C c.655A>C (p.Met219Leu) c.637A>C (p.Met213Leu) | |
| 9 | g.130470879A>G | CA375227233 | ASS1 | c.541A>G (p.Met181Val) c.484A>G (p.Met162Val) n.250A>G n.372A>G c.655A>G (p.Met219Val) c.637A>G (p.Met213Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130470879A>T | CA375227234 | ASS1 | c.541A>T (p.Met181Leu) c.484A>T (p.Met162Leu) n.250A>T n.372A>T c.655A>T (p.Met219Leu) c.637A>T (p.Met213Leu) | |
| 9 | g.130470880T>A | CA375227237 | ASS1 | c.542T>A (p.Met181Lys) c.485T>A (p.Met162Lys) n.251T>A n.373T>A c.656T>A (p.Met219Lys) c.638T>A (p.Met213Lys) | |
| 9 | g.130470880T>C | CA375227239 | ASS1 | c.542T>C (p.Met181Thr) c.485T>C (p.Met162Thr) n.251T>C n.373T>C c.656T>C (p.Met219Thr) c.638T>C (p.Met213Thr) | |
| 9 | g.130470880T>G | CA375227241 | ASS1 | c.542T>G (p.Met181Arg) c.485T>G (p.Met162Arg) n.251T>G n.373T>G c.656T>G (p.Met219Arg) c.638T>G (p.Met213Arg) | |
| 9 | g.130470881G>A | CA375227243 | ASS1 | c.543G>A (p.Met181Ile) c.486G>A (p.Met162Ile) n.252G>A n.374G>A c.657G>A (p.Met219Ile) c.639G>A (p.Met213Ile) | |
| 9 | g.130470881G>C | CA375227245 | ASS1 | c.543G>C (p.Met181Ile) c.486G>C (p.Met162Ile) n.252G>C n.374G>C c.657G>C (p.Met219Ile) c.639G>C (p.Met213Ile) | |
| 9 | g.130470881G>T | CA375227247 | ASS1 | c.543G>T (p.Met181Ile) c.486G>T (p.Met162Ile) n.252G>T n.374G>T c.657G>T (p.Met219Ile) c.639G>T (p.Met213Ile) | |
| 9 | g.130470882G>A | CA375227252 | ASS1 | c.544G>A (p.Asp182Asn) c.487G>A (p.Asp163Asn) n.253G>A n.375G>A c.658G>A (p.Asp220Asn) c.640G>A (p.Asp214Asn) | ClinVar gnomAD v4 |
| 9 | g.130470882G>C | CA375227250 | ASS1 | c.544G>C (p.Asp182His) c.487G>C (p.Asp163His) n.253G>C n.375G>C c.658G>C (p.Asp220His) c.640G>C (p.Asp214His) | gnomAD v4 |
| 9 | g.130470882G>T | CA375227249 | ASS1 | c.544G>T (p.Asp182Tyr) c.487G>T (p.Asp163Tyr) n.253G>T n.375G>T c.658G>T (p.Asp220Tyr) c.640G>T (p.Asp214Tyr) | |
| 9 | g.130470883A>C | CA375227254 | ASS1 | c.545A>C (p.Asp182Ala) c.488A>C (p.Asp163Ala) n.254A>C n.376A>C c.659A>C (p.Asp220Ala) c.641A>C (p.Asp214Ala) | |
| 9 | g.130470883A>G | CA375227256 | ASS1 | c.545A>G (p.Asp182Gly) c.488A>G (p.Asp163Gly) n.254A>G n.376A>G c.659A>G (p.Asp220Gly) c.641A>G (p.Asp214Gly) | |
| 9 | g.130470883A>T | CA375227258 | ASS1 | c.545A>T (p.Asp182Val) c.488A>T (p.Asp163Val) n.254A>T n.376A>T c.659A>T (p.Asp220Val) c.641A>T (p.Asp214Val) | |
| 9 | g.130470884T>A | CA375227260 | ASS1 | c.546T>A (p.Asp182Glu) c.489T>A (p.Asp163Glu) n.255T>A n.377T>A c.660T>A (p.Asp220Glu) c.642T>A (p.Asp214Glu) | |
| 9 | g.130470884T>C | CA467389204 | ASS1 | c.546T>C (p.Asp182=) c.489T>C (p.Asp163=) n.255T>C n.377T>C c.660T>C (p.Asp220=) c.642T>C (p.Asp214=) | |
| 9 | g.130470884T>G | CA375227261 | ASS1 | c.546T>G (p.Asp182Glu) c.489T>G (p.Asp163Glu) n.255T>G n.377T>G c.660T>G (p.Asp220Glu) c.642T>G (p.Asp214Glu) | |
| 9 | g.130470884_130470885insA | CA2695211651 | ASS1 | c.546_547insA (p.Glu183ArgfsTer?) c.489_490insA (p.Glu164ArgfsTer?) n.255_256insA n.377_378insA c.660_661insA (p.Glu221ArgfsTer?) c.642_643insA (p.Glu215ArgfsTer?) | |
| 9 | g.130470885G>A | CA5283337 | ASS1 | c.547G>A (p.Glu183Lys) c.490G>A (p.Glu164Lys) n.256G>A n.378G>A c.661G>A (p.Glu221Lys) c.643G>A (p.Glu215Lys) | dbSNP ExAC gnomAD v4 |
| 9 | g.130470885G>C | CA375227264 | ASS1 | c.547G>C (p.Glu183Gln) c.490G>C (p.Glu164Gln) n.256G>C n.378G>C c.661G>C (p.Glu221Gln) c.643G>C (p.Glu215Gln) | |
| 9 | g.130470885G= | CA1881255888 | ASS1 | c.547G= (p.Glu183=) c.490G= (p.Glu164=) n.256G= n.378G= c.661G= (p.Glu221=) c.643G= (p.Glu215=) | |
| 9 | g.130470885G>T | CA375227266 | ASS1 | c.547G>T (p.Glu183Ter) c.490G>T (p.Glu164Ter) n.256G>T n.378G>T c.661G>T (p.Glu221Ter) c.643G>T (p.Glu215Ter) | |
| 9 | g.130470886A>C | CA375227268 | ASS1 | c.548A>C (p.Glu183Ala) c.491A>C (p.Glu164Ala) n.257A>C n.379A>C c.662A>C (p.Glu221Ala) c.644A>C (p.Glu215Ala) | |
| 9 | g.130470886A>G | CA375227270 | ASS1 | c.548A>G (p.Glu183Gly) c.491A>G (p.Glu164Gly) n.257A>G n.379A>G c.662A>G (p.Glu221Gly) c.644A>G (p.Glu215Gly) | |
| 9 | g.130470886A>T | CA375227271 | ASS1 | c.548A>T (p.Glu183Val) c.491A>T (p.Glu164Val) n.257A>T n.379A>T c.662A>T (p.Glu221Val) c.644A>T (p.Glu215Val) | |
| 9 | g.130470887del | CA645547252 | ASS1 | c.549del (p.Asn184ThrfsTer?) c.492del (p.Asn165ThrfsTer?) n.258del n.380del c.663del (p.Asn222ThrfsTer?) c.645del (p.Asn216ThrfsTer?) | COSMIC |
| 9 | g.130470887G>A | CA5283338 | ASS1 | c.549G>A (p.Glu183=) c.492G>A (p.Glu164=) n.258G>A n.380G>A c.663G>A (p.Glu221=) c.645G>A (p.Glu215=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130470887G>C | CA375227274 | ASS1 | c.549G>C (p.Glu183Asp) c.492G>C (p.Glu164Asp) n.258G>C n.380G>C c.663G>C (p.Glu221Asp) c.645G>C (p.Glu215Asp) | |
| 9 | g.130470887G= | CA1881255889 | ASS1 | c.549G= (p.Glu183=) c.492G= (p.Glu164=) n.258G= n.380G= c.663G= (p.Glu221=) c.645G= (p.Glu215=) | |
| 9 | g.130470887G>T | CA375227276 | ASS1 | c.549G>T (p.Glu183Asp) c.492G>T (p.Glu164Asp) n.258G>T n.380G>T c.663G>T (p.Glu221Asp) c.645G>T (p.Glu215Asp) | |
| 9 | g.130470888A>C | CA375227282 | ASS1 | c.550A>C (p.Asn184His) c.493A>C (p.Asn165His) n.259A>C n.381A>C c.664A>C (p.Asn222His) c.646A>C (p.Asn216His) | |
| 9 | g.130470888A>G | CA375227280 | ASS1 | c.550A>G (p.Asn184Asp) c.493A>G (p.Asn165Asp) n.259A>G n.381A>G c.664A>G (p.Asn222Asp) c.646A>G (p.Asn216Asp) | |
| 9 | g.130470888A>T | CA375227278 | ASS1 | c.550A>T (p.Asn184Tyr) c.493A>T (p.Asn165Tyr) n.259A>T n.381A>T c.664A>T (p.Asn222Tyr) c.646A>T (p.Asn216Tyr) | |
| 9 | g.130470889del | CA2692119822 | ASS1 | c.551del (p.Asn184ThrfsTer?) c.494del (p.Asn165ThrfsTer?) n.260del n.382del c.665del (p.Asn222ThrfsTer?) c.647del (p.Asn216ThrfsTer?) | gnomAD v4 |
| 9 | g.130470889A>C | CA375227284 | ASS1 | c.551A>C (p.Asn184Thr) c.494A>C (p.Asn165Thr) n.260A>C n.382A>C c.665A>C (p.Asn222Thr) c.647A>C (p.Asn216Thr) | |
| 9 | g.130470889A>G | CA375227286 | ASS1 | c.551A>G (p.Asn184Ser) c.494A>G (p.Asn165Ser) n.260A>G n.382A>G c.665A>G (p.Asn222Ser) c.647A>G (p.Asn216Ser) | |
| 9 | g.130470889A>T | CA375227288 | ASS1 | c.551A>T (p.Asn184Ile) c.494A>T (p.Asn165Ile) n.260A>T n.382A>T c.665A>T (p.Asn222Ile) c.647A>T (p.Asn216Ile) | |
| 9 | g.130470890C>A | CA375227289 | ASS1 | c.552C>A (p.Asn184Lys) c.495C>A (p.Asn165Lys) n.261C>A n.383C>A c.666C>A (p.Asn222Lys) c.648C>A (p.Asn216Lys) | dbSNP gnomAD v4 |
| 9 | g.130470890C= | CA1881255890 | ASS1 | c.552C= (p.Asn184=) c.495C= (p.Asn165=) n.261C= n.383C= c.666C= (p.Asn222=) c.648C= (p.Asn216=) | |
| 9 | g.130470890C>G | CA375227291 | ASS1 | c.552C>G (p.Asn184Lys) c.495C>G (p.Asn165Lys) n.261C>G n.383C>G c.666C>G (p.Asn222Lys) c.648C>G (p.Asn216Lys) | gnomAD v4 |
| 9 | g.130470890C>T | CA5283339 | ASS1 | c.552C>T (p.Asn184=) c.495C>T (p.Asn165=) n.261C>T n.383C>T c.666C>T (p.Asn222=) c.648C>T (p.Asn216=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |