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.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) | |
| 3 | g.122275978C>G | CA354155354 | CASR | c.1378-6135C>G (n.1378-6135C>G) c.1544C>G (p.Ala515Gly) c.1061C>G (p.Ala354Gly) c.956C>G (p.Ala319Gly) | |
| 3 | g.122275978C>T | CA354155355 | CASR | c.1378-6135C>T (n.1378-6135C>T) c.1544C>T (p.Ala515Val) c.1061C>T (p.Ala354Val) c.956C>T (p.Ala319Val) | |
| 3 | g.122275979C>A | CA435424572 | CASR | c.1378-6134C>A (n.1378-6134C>A) c.1545C>A (p.Ala515=) c.1062C>A (p.Ala354=) c.957C>A (p.Ala319=) | |
| 3 | g.122275979C= | CA1397883165 | CASR | c.1378-6134C= (n.1378-6134C=) c.1545C= (p.Ala515=) c.1062C= (p.Ala354=) c.957C= (p.Ala319=) | |
| 3 | g.122275979C>G | CA435424573 | CASR | c.1378-6134C>G (n.1378-6134C>G) c.1545C>G (p.Ala515=) c.1062C>G (p.Ala354=) c.957C>G (p.Ala319=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122275979C>T | CA435424574 | CASR | c.1378-6134C>T (n.1378-6134C>T) c.1545C>T (p.Ala515=) c.1062C>T (p.Ala354=) c.957C>T (p.Ala319=) | |
| 3 | g.122275980A>C | CA354155360 | CASR | c.1378-6133A>C (n.1378-6133A>C) c.1546A>C (p.Lys516Gln) c.1063A>C (p.Lys355Gln) c.958A>C (p.Lys320Gln) | |
| 3 | g.122275980A>G | CA354155361 | CASR | c.1378-6133A>G (n.1378-6133A>G) c.1546A>G (p.Lys516Glu) c.1063A>G (p.Lys355Glu) c.958A>G (p.Lys320Glu) | |
| 3 | g.122275980A>T | CA354155364 | CASR | c.1378-6133A>T (n.1378-6133A>T) c.1546A>T (p.Lys516Ter) c.1063A>T (p.Lys355Ter) c.958A>T (p.Lys320Ter) | |
| 3 | g.122275981A>C | CA354155366 | CASR | c.1378-6132A>C (n.1378-6132A>C) c.1547A>C (p.Lys516Thr) c.1064A>C (p.Lys355Thr) c.959A>C (p.Lys320Thr) | |
| 3 | g.122275981A>G | CA354155368 | CASR | c.1378-6132A>G (n.1378-6132A>G) c.1547A>G (p.Lys516Arg) c.1064A>G (p.Lys355Arg) c.959A>G (p.Lys320Arg) | |
| 3 | g.122275981A>T | CA354155370 | CASR | c.1378-6132A>T (n.1378-6132A>T) c.1547A>T (p.Lys516Met) c.1064A>T (p.Lys355Met) c.959A>T (p.Lys320Met) | |
| 3 | g.122275982G>A | CA435424578 | CASR | c.1378-6131G>A (n.1378-6131G>A) c.1548G>A (p.Lys516=) c.1065G>A (p.Lys355=) c.960G>A (p.Lys320=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122275982G>C | CA354155372 | CASR | c.1378-6131G>C (n.1378-6131G>C) c.1548G>C (p.Lys516Asn) c.1065G>C (p.Lys355Asn) c.960G>C (p.Lys320Asn) | |
| 3 | g.122275982G= | CA1397883166 | CASR | c.1378-6131G= (n.1378-6131G=) c.1548G= (p.Lys516=) c.1065G= (p.Lys355=) c.960G= (p.Lys320=) | |
| 3 | g.122275982G>T | CA354155373 | CASR | c.1378-6131G>T (n.1378-6131G>T) c.1548G>T (p.Lys516Asn) c.1065G>T (p.Lys355Asn) c.960G>T (p.Lys320Asn) | |
| 3 | g.122275983A= | CA1397883167 | CASR | c.1378-6130A= (n.1378-6130A=) c.1549A= (p.Lys517=) c.1066A= (p.Lys356=) c.961A= (p.Lys321=) | |
| 3 | g.122275983A>C | CA354155374 | CASR | c.1378-6130A>C (n.1378-6130A>C) c.1549A>C (p.Lys517Gln) c.1066A>C (p.Lys356Gln) c.961A>C (p.Lys321Gln) | |
| 3 | g.122275983A>G | CA2569674 | CASR | c.1378-6130A>G (n.1378-6130A>G) c.1549A>G (p.Lys517Glu) c.1066A>G (p.Lys356Glu) c.961A>G (p.Lys321Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122275983A>T | CA354155377 | CASR | c.1378-6130A>T (n.1378-6130A>T) c.1549A>T (p.Lys517Ter) c.1066A>T (p.Lys356Ter) c.961A>T (p.Lys321Ter) | |
| 3 | g.122275984A>C | CA354155384 | CASR | c.1378-6129A>C (n.1378-6129A>C) c.1550A>C (p.Lys517Thr) c.1067A>C (p.Lys356Thr) c.962A>C (p.Lys321Thr) | gnomAD v4 |
| 3 | g.122275984A>G | CA354155380 | CASR | c.1378-6129A>G (n.1378-6129A>G) c.1550A>G (p.Lys517Arg) c.1067A>G (p.Lys356Arg) c.962A>G (p.Lys321Arg) | |
| 3 | g.122275984A>T | CA354155382 | CASR | c.1378-6129A>T (n.1378-6129A>T) c.1550A>T (p.Lys517Met) c.1067A>T (p.Lys356Met) c.962A>T (p.Lys321Met) | ClinVar dbSNP |