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 |
|---|---|---|---|---|---|
| 3 | g.122275964T>A | CA354155296 | CASR | c.1378-6149T>A (n.1378-6149T>A) c.1530T>A (p.Tyr510Ter) c.1047T>A (p.Tyr349Ter) c.942T>A (p.Tyr314Ter) | |
| 3 | g.122275964T>C | CA435425043 | CASR | c.1378-6149T>C (n.1378-6149T>C) c.1530T>C (p.Tyr510=) c.1047T>C (p.Tyr349=) c.942T>C (p.Tyr314=) | |
| 3 | g.122275964T>G | CA354155295 | CASR | c.1378-6149T>G (n.1378-6149T>G) c.1530T>G (p.Tyr510Ter) c.1047T>G (p.Tyr349Ter) c.942T>G (p.Tyr314Ter) | |
| 3 | g.122275965T>A | CA354155297 | CASR | c.1378-6148T>A (n.1378-6148T>A) c.1531T>A (p.Tyr511Asn) c.1048T>A (p.Tyr350Asn) c.943T>A (p.Tyr315Asn) | gnomAD v4 |
| 3 | g.122275965T>C | CA354155298 | CASR | c.1378-6148T>C (n.1378-6148T>C) c.1531T>C (p.Tyr511His) c.1048T>C (p.Tyr350His) c.943T>C (p.Tyr315His) | |
| 3 | g.122275965T>G | CA354155299 | CASR | c.1378-6148T>G (n.1378-6148T>G) c.1531T>G (p.Tyr511Asp) c.1048T>G (p.Tyr350Asp) c.943T>G (p.Tyr315Asp) | |
| 3 | g.122275966A>C | CA354155300 | CASR | c.1378-6147A>C (n.1378-6147A>C) c.1532A>C (p.Tyr511Ser) c.1049A>C (p.Tyr350Ser) c.944A>C (p.Tyr315Ser) | |
| 3 | g.122275966A>G | CA354155301 | CASR | c.1378-6147A>G (n.1378-6147A>G) c.1532A>G (p.Tyr511Cys) c.1049A>G (p.Tyr350Cys) c.944A>G (p.Tyr315Cys) | |
| 3 | g.122275966A>T | CA354155303 | CASR | c.1378-6147A>T (n.1378-6147A>T) c.1532A>T (p.Tyr511Phe) c.1049A>T (p.Tyr350Phe) c.944A>T (p.Tyr315Phe) | |
| 3 | g.122275967C>A | CA354155305 | CASR | c.1378-6146C>A (n.1378-6146C>A) c.1533C>A (p.Tyr511Ter) c.1050C>A (p.Tyr350Ter) c.945C>A (p.Tyr315Ter) | |
| 3 | g.122275967C>G | CA354155307 | CASR | c.1378-6146C>G (n.1378-6146C>G) c.1533C>G (p.Tyr511Ter) c.1050C>G (p.Tyr350Ter) c.945C>G (p.Tyr315Ter) | |
| 3 | g.122275967C>T | CA435425051 | CASR | c.1378-6146C>T (n.1378-6146C>T) c.1533C>T (p.Tyr511=) c.1050C>T (p.Tyr350=) c.945C>T (p.Tyr315=) | gnomAD v4 |
| 3 | g.122275968A= | CA1397883158 | CASR | c.1378-6145A= (n.1378-6145A=) c.1534A= (p.Asn512=) c.1051A= (p.Asn351=) c.946A= (p.Asn316=) | |
| 3 | g.122275968A>C | CA354155309 | CASR | c.1378-6145A>C (n.1378-6145A>C) c.1534A>C (p.Asn512His) c.1051A>C (p.Asn351His) c.946A>C (p.Asn316His) | |
| 3 | g.122275968A>G | CA354155311 | CASR | c.1378-6145A>G (n.1378-6145A>G) c.1534A>G (p.Asn512Asp) c.1051A>G (p.Asn351Asp) c.946A>G (p.Asn316Asp) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122275968A>T | CA354155313 | CASR | c.1378-6145A>T (n.1378-6145A>T) c.1534A>T (p.Asn512Tyr) c.1051A>T (p.Asn351Tyr) c.946A>T (p.Asn316Tyr) | |
| 3 | g.122275969A>C | CA354155314 | CASR | c.1378-6144A>C (n.1378-6144A>C) c.1535A>C (p.Asn512Thr) c.1052A>C (p.Asn351Thr) c.947A>C (p.Asn316Thr) | |
| 3 | g.122275969A>G | CA354155315 | CASR | c.1378-6144A>G (n.1378-6144A>G) c.1535A>G (p.Asn512Ser) c.1052A>G (p.Asn351Ser) c.947A>G (p.Asn316Ser) | dbSNP |
| 3 | g.122275969A>T | CA354155317 | CASR | c.1378-6144A>T (n.1378-6144A>T) c.1535A>T (p.Asn512Ile) c.1052A>T (p.Asn351Ile) c.947A>T (p.Asn316Ile) | |
| 3 | g.122275970C>A | CA354155321 | CASR | c.1378-6143C>A (n.1378-6143C>A) c.1536C>A (p.Asn512Lys) c.1053C>A (p.Asn351Lys) c.948C>A (p.Asn316Lys) | |
| 3 | g.122275970C= | CA1397883159 | CASR | c.1378-6143C= (n.1378-6143C=) c.1536C= (p.Asn512=) c.1053C= (p.Asn351=) c.948C= (p.Asn316=) | |
| 3 | g.122275970C>G | CA354155319 | CASR | c.1378-6143C>G (n.1378-6143C>G) c.1536C>G (p.Asn512Lys) c.1053C>G (p.Asn351Lys) c.948C>G (p.Asn316Lys) | |
| 3 | g.122275970C>T | CA82745987 | CASR | c.1378-6143C>T (n.1378-6143C>T) c.1536C>T (p.Asn512=) c.1053C>T (p.Asn351=) c.948C>T (p.Asn316=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122275971G>A | CA82745990 | CASR | c.1378-6142G>A (n.1378-6142G>A) c.1537G>A (p.Val513Ile) c.1054G>A (p.Val352Ile) c.949G>A (p.Val317Ile) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122275971G>C | CA354155324 | CASR | c.1378-6142G>C (n.1378-6142G>C) c.1537G>C (p.Val513Leu) c.1054G>C (p.Val352Leu) c.949G>C (p.Val317Leu) | |
| 3 | g.122275971G= | CA1397883160 | CASR | c.1378-6142G= (n.1378-6142G=) c.1537G= (p.Val513=) c.1054G= (p.Val352=) c.949G= (p.Val317=) | |
| 3 | g.122275971G>T | CA354155326 | CASR | c.1378-6142G>T (n.1378-6142G>T) c.1537G>T (p.Val513Phe) c.1054G>T (p.Val352Phe) c.949G>T (p.Val317Phe) | |
| 3 | g.122275972T>A | CA354155328 | CASR | c.1378-6141T>A (n.1378-6141T>A) c.1538T>A (p.Val513Asp) c.1055T>A (p.Val352Asp) c.950T>A (p.Val317Asp) | dbSNP |
| 3 | g.122275972T>C | CA354155330 | CASR | c.1378-6141T>C (n.1378-6141T>C) c.1538T>C (p.Val513Ala) c.1055T>C (p.Val352Ala) c.950T>C (p.Val317Ala) | |
| 3 | g.122275972T>G | CA354155332 | CASR | c.1378-6141T>G (n.1378-6141T>G) c.1538T>G (p.Val513Gly) c.1055T>G (p.Val352Gly) c.950T>G (p.Val317Gly) | |
| 3 | g.122275972T= | CA1397883161 | CASR | c.1378-6141T= (n.1378-6141T=) c.1538T= (p.Val513=) c.1055T= (p.Val352=) c.950T= (p.Val317=) | |
| 3 | g.122275973C>A | CA435424556 | CASR | c.1378-6140C>A (n.1378-6140C>A) c.1539C>A (p.Val513=) c.1056C>A (p.Val352=) c.951C>A (p.Val317=) | |
| 3 | g.122275973C= | CA1397883162 | CASR | c.1378-6140C= (n.1378-6140C=) c.1539C= (p.Val513=) c.1056C= (p.Val352=) c.951C= (p.Val317=) | |
| 3 | g.122275973C>G | CA435424558 | CASR | c.1378-6140C>G (n.1378-6140C>G) c.1539C>G (p.Val513=) c.1056C>G (p.Val352=) c.951C>G (p.Val317=) | |
| 3 | g.122275973C>T | CA435424559 | CASR | c.1378-6140C>T (n.1378-6140C>T) c.1539C>T (p.Val513=) c.1056C>T (p.Val352=) c.951C>T (p.Val317=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122275974T>A | CA354155334 | CASR | c.1378-6139T>A (n.1378-6139T>A) c.1540T>A (p.Tyr514Asn) c.1057T>A (p.Tyr353Asn) c.952T>A (p.Tyr318Asn) | |
| 3 | g.122275974T>C | CA354155335 | CASR | c.1378-6139T>C (n.1378-6139T>C) c.1540T>C (p.Tyr514His) c.1057T>C (p.Tyr353His) c.952T>C (p.Tyr318His) | |
| 3 | g.122275974T>G | CA354155337 | CASR | c.1378-6139T>G (n.1378-6139T>G) c.1540T>G (p.Tyr514Asp) c.1057T>G (p.Tyr353Asp) c.952T>G (p.Tyr318Asp) | |
| 3 | g.122275975A>C | CA354155339 | CASR | c.1378-6138A>C (n.1378-6138A>C) c.1541A>C (p.Tyr514Ser) c.1058A>C (p.Tyr353Ser) c.953A>C (p.Tyr318Ser) | |
| 3 | g.122275975A>G | CA354155340 | CASR | c.1378-6138A>G (n.1378-6138A>G) c.1541A>G (p.Tyr514Cys) c.1058A>G (p.Tyr353Cys) c.953A>G (p.Tyr318Cys) | ClinVar |
| 3 | g.122275975A>T | CA354155342 | CASR | c.1378-6138A>T (n.1378-6138A>T) c.1541A>T (p.Tyr514Phe) c.1058A>T (p.Tyr353Phe) c.953A>T (p.Tyr318Phe) | |
| 3 | g.122275976T>A | CA354155345 | CASR | c.1378-6137T>A (n.1378-6137T>A) c.1542T>A (p.Tyr514Ter) c.1059T>A (p.Tyr353Ter) c.954T>A (p.Tyr318Ter) | |
| 3 | g.122275976T>C | CA435424565 | CASR | c.1378-6137T>C (n.1378-6137T>C) c.1542T>C (p.Tyr514=) c.1059T>C (p.Tyr353=) c.954T>C (p.Tyr318=) | ClinVar |
| 3 | g.122275976T>G | CA354155346 | CASR | c.1378-6137T>G (n.1378-6137T>G) c.1542T>G (p.Tyr514Ter) c.1059T>G (p.Tyr353Ter) c.954T>G (p.Tyr318Ter) | ClinVar dbSNP |
| 3 | g.122275976T= | CA1397883163 | CASR | c.1378-6137T= (n.1378-6137T=) c.1542T= (p.Tyr514=) c.1059T= (p.Tyr353=) c.954T= (p.Tyr318=) | |
| 3 | g.122275977G>A | CA354155351 | CASR | c.1378-6136G>A (n.1378-6136G>A) c.1543G>A (p.Ala515Thr) c.1060G>A (p.Ala354Thr) c.955G>A (p.Ala319Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122275977G>C | CA354155353 | CASR | c.1378-6136G>C (n.1378-6136G>C) c.1543G>C (p.Ala515Pro) c.1060G>C (p.Ala354Pro) c.955G>C (p.Ala319Pro) | |
| 3 | g.122275977G= | CA1397883164 | CASR | c.1378-6136G= (n.1378-6136G=) c.1543G= (p.Ala515=) c.1060G= (p.Ala354=) c.955G= (p.Ala319=) | |
| 3 | g.122275977G>T | CA354155349 | CASR | c.1378-6136G>T (n.1378-6136G>T) c.1543G>T (p.Ala515Ser) c.1060G>T (p.Ala354Ser) c.955G>T (p.Ala319Ser) | |
| 3 | g.122275978C>A | CA354155357 | CASR | c.1378-6135C>A (n.1378-6135C>A) c.1544C>A (p.Ala515Asp) c.1061C>A (p.Ala354Asp) c.956C>A (p.Ala319Asp) |