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 |
|---|---|---|---|---|---|
| X | g.67717526C>A | CA413424509 | AR | c.*570C>A (n.*570C>A) c.2222C>A (p.Ser741Tyr) c.849C>A (n.849C>A) c.2173+5837C>A (n.2173+5837C>A) c.626C>A (p.Ser209Tyr) c.1652C>A (p.Ser551Tyr) | dbSNP |
| X | g.67717526C= | CA2435132641 | AR | c.*570C= (n.*570C=) c.2222C= (p.Ser741=) c.849C= (n.849C=) c.2173+5837C= (n.2173+5837C=) c.626C= (p.Ser209=) c.1652C= (p.Ser551=) | |
| X | g.67717526C>G | CA120792 | AR | c.*570C>G (n.*570C>G) c.2222C>G (p.Ser741Cys) c.849C>G (n.849C>G) c.2173+5837C>G (n.2173+5837C>G) c.626C>G (p.Ser209Cys) c.1652C>G (p.Ser551Cys) | ClinVar dbSNP |
| X | g.67717526C>T | CA413424512 | AR | c.*570C>T (n.*570C>T) c.2222C>T (p.Ser741Phe) c.849C>T (n.849C>T) c.2173+5837C>T (n.2173+5837C>T) c.626C>T (p.Ser209Phe) c.1652C>T (p.Ser551Phe) | ClinVar dbSNP COSMIC COSMIC |
| X | g.67717527C>A | CA516970353 | AR | c.*571C>A (n.*571C>A) c.2223C>A (p.Ser741=) c.850C>A (n.850C>A) c.2173+5838C>A (n.2173+5838C>A) c.627C>A (p.Ser209=) c.1653C>A (p.Ser551=) | dbSNP |
| X | g.67717527C>G | CA516970354 | AR | c.*571C>G (n.*571C>G) c.2223C>G (p.Ser741=) c.850C>G (n.850C>G) c.2173+5838C>G (n.2173+5838C>G) c.627C>G (p.Ser209=) c.1653C>G (p.Ser551=) | dbSNP |
| X | g.67717527C>T | CA516970355 | AR | c.*571C>T (n.*571C>T) c.2223C>T (p.Ser741=) c.850C>T (n.850C>T) c.2173+5838C>T (n.2173+5838C>T) c.627C>T (p.Ser209=) c.1653C>T (p.Ser551=) | dbSNP |
| X | g.67717528T>A | CA413424515 | AR | c.*572T>A (n.*572T>A) c.2224T>A (p.Trp742Arg) c.851T>A (n.851T>A) c.2173+5839T>A (n.2173+5839T>A) c.628T>A (p.Trp210Arg) c.1654T>A (p.Trp552Arg) | |
| X | g.67717528T>C | CA413424517 | AR | c.*572T>C (n.*572T>C) c.2224T>C (p.Trp742Arg) c.851T>C (n.851T>C) c.2173+5839T>C (n.2173+5839T>C) c.628T>C (p.Trp210Arg) c.1654T>C (p.Trp552Arg) | |
| X | g.67717528T>G | CA413424519 | AR | c.*572T>G (n.*572T>G) c.2224T>G (p.Trp742Gly) c.851T>G (n.851T>G) c.2173+5839T>G (n.2173+5839T>G) c.628T>G (p.Trp210Gly) c.1654T>G (p.Trp552Gly) | |
| X | g.67717529G>A | CA413424521 | AR | c.*573G>A (n.*573G>A) c.2225G>A (p.Trp742Ter) c.852G>A (n.852G>A) c.2173+5840G>A (n.2173+5840G>A) c.629G>A (p.Trp210Ter) c.1655G>A (p.Trp552Ter) | ClinVar dbSNP COSMIC |
| X | g.67717529G>C | CA413424524 | AR | c.*573G>C (n.*573G>C) c.2225G>C (p.Trp742Ser) c.852G>C (n.852G>C) c.2173+5840G>C (n.2173+5840G>C) c.629G>C (p.Trp210Ser) c.1655G>C (p.Trp552Ser) | ClinVar dbSNP |
| X | g.67717529G= | CA2435132642 | AR | c.*573G= (n.*573G=) c.2225G= (p.Trp742=) c.852G= (n.852G=) c.2173+5840G= (n.2173+5840G=) c.629G= (p.Trp210=) c.1655G= (p.Trp552=) | |
| X | g.67717529G>T | CA413424520 | AR | c.*573G>T (n.*573G>T) c.2225G>T (p.Trp742Leu) c.852G>T (n.852G>T) c.2173+5840G>T (n.2173+5840G>T) c.629G>T (p.Trp210Leu) c.1655G>T (p.Trp552Leu) | ClinVar dbSNP COSMIC |
| X | g.67717530G>A | CA413424527 | AR | c.*574G>A (n.*574G>A) c.2226G>A (p.Trp742Ter) c.853G>A (n.853G>A) c.2173+5841G>A (n.2173+5841G>A) c.630G>A (p.Trp210Ter) c.1656G>A (p.Trp552Ter) | ClinVar dbSNP |
| X | g.67717530G>C | CA413424528 | AR | c.*574G>C (n.*574G>C) c.2226G>C (p.Trp742Cys) c.853G>C (n.853G>C) c.2173+5841G>C (n.2173+5841G>C) c.630G>C (p.Trp210Cys) c.1656G>C (p.Trp552Cys) | dbSNP COSMIC |
| X | g.67717530G>T | CA413424529 | AR | c.*574G>T (n.*574G>T) c.2226G>T (p.Trp742Cys) c.853G>T (n.853G>T) c.2173+5841G>T (n.2173+5841G>T) c.630G>T (p.Trp210Cys) c.1656G>T (p.Trp552Cys) | COSMIC COSMIC COSMIC |
| X | g.67717531A>C | CA413424532 | AR | c.*575A>C (n.*575A>C) c.2227A>C (p.Met743Leu) c.854A>C (n.854A>C) c.2173+5842A>C (n.2173+5842A>C) c.631A>C (p.Met211Leu) c.1657A>C (p.Met553Leu) | |
| X | g.67717531A>G | CA413424534 | AR | c.*575A>G (n.*575A>G) c.2227A>G (p.Met743Val) c.854A>G (n.854A>G) c.2173+5842A>G (n.2173+5842A>G) c.631A>G (p.Met211Val) c.1657A>G (p.Met553Val) | ClinVar dbSNP |
| X | g.67717531A>T | CA413424535 | AR | c.*575A>T (n.*575A>T) c.2227A>T (p.Met743Leu) c.854A>T (n.854A>T) c.2173+5842A>T (n.2173+5842A>T) c.631A>T (p.Met211Leu) c.1657A>T (p.Met553Leu) | dbSNP |
| X | g.67717532T>A | CA413424536 | AR | c.*576T>A (n.*576T>A) c.2228T>A (p.Met743Lys) c.855T>A (n.855T>A) c.2173+5843T>A (n.2173+5843T>A) c.632T>A (p.Met211Lys) c.1658T>A (p.Met553Lys) | ClinVar dbSNP |
| X | g.67717532T>C | CA413424537 | AR | c.*576T>C (n.*576T>C) c.2228T>C (p.Met743Thr) c.855T>C (n.855T>C) c.2173+5843T>C (n.2173+5843T>C) c.632T>C (p.Met211Thr) c.1658T>C (p.Met553Thr) | dbSNP gnomAD v4 |
| X | g.67717532T>G | CA413424538 | AR | c.*576T>G (n.*576T>G) c.2228T>G (p.Met743Arg) c.855T>G (n.855T>G) c.2173+5843T>G (n.2173+5843T>G) c.632T>G (p.Met211Arg) c.1658T>G (p.Met553Arg) | |
| X | g.67717532T= | CA2435132643 | AR | c.*576T= (n.*576T=) c.2228T= (p.Met743=) c.855T= (n.855T=) c.2173+5843T= (n.2173+5843T=) c.632T= (p.Met211=) c.1658T= (p.Met553=) | |
| X | g.67717533G>A | CA413424540 | AR | c.*577G>A (n.*577G>A) c.2229G>A (p.Met743Ile) c.856G>A (n.856G>A) c.2173+5844G>A (n.2173+5844G>A) c.633G>A (p.Met211Ile) c.1659G>A (p.Met553Ile) | dbSNP |
| X | g.67717533G>C | CA413424544 | AR | c.*577G>C (n.*577G>C) c.2229G>C (p.Met743Ile) c.856G>C (n.856G>C) c.2173+5844G>C (n.2173+5844G>C) c.633G>C (p.Met211Ile) c.1659G>C (p.Met553Ile) | |
| X | g.67717533G>T | CA413424545 | AR | c.*577G>T (n.*577G>T) c.2229G>T (p.Met743Ile) c.856G>T (n.856G>T) c.2173+5844G>T (n.2173+5844G>T) c.633G>T (p.Met211Ile) c.1659G>T (p.Met553Ile) | |
| X | g.67717536del | CA645603434 | AR | c.*580del (n.*580del) c.2232del (p.Leu745SerfsTer?) c.859del (n.859del) c.2173+5847del (n.2173+5847del) c.636del (p.Leu213SerfsTer?) c.1662del (p.Leu555SerfsTer?) | COSMIC |
| X | g.67717534G>A | CA413424550 | AR | c.*578G>A (n.*578G>A) c.2230G>A (p.Gly744Arg) c.857G>A (n.857G>A) c.2173+5845G>A (n.2173+5845G>A) c.634G>A (p.Gly212Arg) c.1660G>A (p.Gly554Arg) | dbSNP |
| X | g.67717534G>C | CA413424549 | AR | c.*578G>C (n.*578G>C) c.2230G>C (p.Gly744Arg) c.857G>C (n.857G>C) c.2173+5845G>C (n.2173+5845G>C) c.634G>C (p.Gly212Arg) c.1660G>C (p.Gly554Arg) | dbSNP |
| X | g.67717534G>T | CA413424547 | AR | c.*578G>T (n.*578G>T) c.2230G>T (p.Gly744Trp) c.857G>T (n.857G>T) c.2173+5845G>T (n.2173+5845G>T) c.634G>T (p.Gly212Trp) c.1660G>T (p.Gly554Trp) | |
| X | g.67717535G>A | CA120789 | AR | c.*579G>A (n.*579G>A) c.2231G>A (p.Gly744Glu) c.858G>A (n.858G>A) c.2173+5846G>A (n.2173+5846G>A) c.635G>A (p.Gly212Glu) c.1661G>A (p.Gly554Glu) | ClinVar dbSNP |
| X | g.67717535G>C | CA413424552 | AR | c.*579G>C (n.*579G>C) c.2231G>C (p.Gly744Ala) c.858G>C (n.858G>C) c.2173+5846G>C (n.2173+5846G>C) c.635G>C (p.Gly212Ala) c.1661G>C (p.Gly554Ala) | |
| X | g.67717535G= | CA2435132644 | AR | c.*579G= (n.*579G=) c.2231G= (p.Gly744=) c.858G= (n.858G=) c.2173+5846G= (n.2173+5846G=) c.635G= (p.Gly212=) c.1661G= (p.Gly554=) | |
| X | g.67717535G>T | CA120786 | AR | c.*579G>T (n.*579G>T) c.2231G>T (p.Gly744Val) c.858G>T (n.858G>T) c.2173+5846G>T (n.2173+5846G>T) c.635G>T (p.Gly212Val) c.1661G>T (p.Gly554Val) | ClinVar dbSNP |
| X | g.67717536G>A | CA516970356 | AR | c.*580G>A (n.*580G>A) c.2232G>A (p.Gly744=) c.859G>A (n.859G>A) c.2173+5847G>A (n.2173+5847G>A) c.636G>A (p.Gly212=) c.1662G>A (p.Gly554=) | dbSNP COSMIC COSMIC COSMIC |
| X | g.67717536G>C | CA516970357 | AR | c.*580G>C (n.*580G>C) c.2232G>C (p.Gly744=) c.859G>C (n.859G>C) c.2173+5847G>C (n.2173+5847G>C) c.636G>C (p.Gly212=) c.1662G>C (p.Gly554=) | dbSNP |
| X | g.67717536G= | CA2435132645 | AR | c.*580G= (n.*580G=) c.2232G= (p.Gly744=) c.859G= (n.859G=) c.2173+5847G= (n.2173+5847G=) c.636G= (p.Gly212=) c.1662G= (p.Gly554=) | |
| X | g.67717536G>T | CA516970358 | AR | c.*580G>T (n.*580G>T) c.2232G>T (p.Gly744=) c.859G>T (n.859G>T) c.2173+5847G>T (n.2173+5847G>T) c.636G>T (p.Gly212=) c.1662G>T (p.Gly554=) | ClinVar dbSNP gnomAD v4 |
| X | g.67717537C>A | CA413424556 | AR | c.*581C>A (n.*581C>A) c.2233C>A (p.Leu745Ile) c.860C>A (n.860C>A) c.2173+5848C>A (n.2173+5848C>A) c.637C>A (p.Leu213Ile) c.1663C>A (p.Leu555Ile) | dbSNP |
| X | g.67717537C>G | CA413424559 | AR | c.*581C>G (n.*581C>G) c.2233C>G (p.Leu745Val) c.860C>G (n.860C>G) c.2173+5848C>G (n.2173+5848C>G) c.637C>G (p.Leu213Val) c.1663C>G (p.Leu555Val) | dbSNP |
| X | g.67717537C>T | CA413424561 | AR | c.*581C>T (n.*581C>T) c.2233C>T (p.Leu745Phe) c.860C>T (n.860C>T) c.2173+5848C>T (n.2173+5848C>T) c.637C>T (p.Leu213Phe) c.1663C>T (p.Leu555Phe) | ClinVar dbSNP COSMIC |
| X | g.67717538T>A | CA413424565 | AR | c.*582T>A (n.*582T>A) c.2234T>A (p.Leu745His) c.861T>A (n.861T>A) c.2173+5849T>A (n.2173+5849T>A) c.638T>A (p.Leu213His) c.1664T>A (p.Leu555His) | dbSNP |
| X | g.67717538T>C | CA413424574 | AR | c.*582T>C (n.*582T>C) c.2234T>C (p.Leu745Pro) c.861T>C (n.861T>C) c.2173+5849T>C (n.2173+5849T>C) c.638T>C (p.Leu213Pro) c.1664T>C (p.Leu555Pro) | dbSNP |
| X | g.67717538T>G | CA413424580 | AR | c.*582T>G (n.*582T>G) c.2234T>G (p.Leu745Arg) c.861T>G (n.861T>G) c.2173+5849T>G (n.2173+5849T>G) c.638T>G (p.Leu213Arg) c.1664T>G (p.Leu555Arg) | |
| X | g.67717539C>A | CA516970359 | AR | c.*583C>A (n.*583C>A) c.2235C>A (p.Leu745=) c.862C>A (n.862C>A) c.2173+5850C>A (n.2173+5850C>A) c.639C>A (p.Leu213=) c.1665C>A (p.Leu555=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.67717539C= | CA2435132646 | AR | c.*583C= (n.*583C=) c.2235C= (p.Leu745=) c.862C= (n.862C=) c.2173+5850C= (n.2173+5850C=) c.639C= (p.Leu213=) c.1665C= (p.Leu555=) | |
| X | g.67717539C>G | CA516970360 | AR | c.*583C>G (n.*583C>G) c.2235C>G (p.Leu745=) c.862C>G (n.862C>G) c.2173+5850C>G (n.2173+5850C>G) c.639C>G (p.Leu213=) c.1665C>G (p.Leu555=) | dbSNP |
| X | g.67717539C>T | CA516970361 | AR | c.*583C>T (n.*583C>T) c.2235C>T (p.Leu745=) c.862C>T (n.862C>T) c.2173+5850C>T (n.2173+5850C>T) c.639C>T (p.Leu213=) c.1665C>T (p.Leu555=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.67717540A= | CA2435132647 | AR | c.*584A= (n.*584A=) c.2236A= (p.Met746=) c.863A= (n.863A=) c.2173+5851A= (n.2173+5851A=) c.640A= (p.Met214=) c.1666A= (p.Met556=) |