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.67711544T>A | CA413423257 | AR | c.*376T>A (n.*376T>A) c.2028T>A (p.Asn676Lys) c.655T>A (n.655T>A) c.432T>A (p.Asn144Lys) c.1458T>A (p.Asn486Lys) | dbSNP |
| X | g.67711544T>C | CA517048333 | AR | c.*376T>C (n.*376T>C) c.2028T>C (p.Asn676=) c.655T>C (n.655T>C) c.432T>C (p.Asn144=) c.1458T>C (p.Asn486=) | dbSNP |
| X | g.67711544T>G | CA413423258 | AR | c.*376T>G (n.*376T>G) c.2028T>G (p.Asn676Lys) c.655T>G (n.655T>G) c.432T>G (p.Asn144Lys) c.1458T>G (p.Asn486Lys) | dbSNP |
| X | g.67711545G>A | CA413423259 | AR | c.*377G>A (n.*377G>A) c.2029G>A (p.Val677Ile) c.656G>A (n.656G>A) c.433G>A (p.Val145Ile) c.1459G>A (p.Val487Ile) | dbSNP |
| X | g.67711545G>C | CA413423261 | AR | c.*377G>C (n.*377G>C) c.2029G>C (p.Val677Leu) c.656G>C (n.656G>C) c.433G>C (p.Val145Leu) c.1459G>C (p.Val487Leu) | dbSNP |
| X | g.67711545G>T | CA413423260 | AR | c.*377G>T (n.*377G>T) c.2029G>T (p.Val677Phe) c.656G>T (n.656G>T) c.433G>T (p.Val145Phe) c.1459G>T (p.Val487Phe) | |
| X | g.67711546T>A | CA413423262 | AR | c.*378T>A (n.*378T>A) c.2030T>A (p.Val677Asp) c.657T>A (n.657T>A) c.434T>A (p.Val145Asp) c.1460T>A (p.Val487Asp) | |
| X | g.67711546T>C | CA413423263 | AR | c.*378T>C (n.*378T>C) c.2030T>C (p.Val677Ala) c.657T>C (n.657T>C) c.434T>C (p.Val145Ala) c.1460T>C (p.Val487Ala) | |
| X | g.67711546T>G | CA413423264 | AR | c.*378T>G (n.*378T>G) c.2030T>G (p.Val677Gly) c.657T>G (n.657T>G) c.434T>G (p.Val145Gly) c.1460T>G (p.Val487Gly) | |
| X | g.67711547C>A | CA517048336 | AR | c.*379C>A (n.*379C>A) c.2031C>A (p.Val677=) c.658C>A (n.658C>A) c.435C>A (p.Val145=) c.1461C>A (p.Val487=) | dbSNP COSMIC COSMIC |
| X | g.67711547C= | CA2435130480 | AR | c.*379C= (n.*379C=) c.2031C= (p.Val677=) c.658C= (n.658C=) c.435C= (p.Val145=) c.1461C= (p.Val487=) | |
| X | g.67711547C>G | CA517048338 | AR | c.*379C>G (n.*379C>G) c.2031C>G (p.Val677=) c.658C>G (n.658C>G) c.435C>G (p.Val145=) c.1461C>G (p.Val487=) | dbSNP |
| X | g.67711547C>T | CA517048339 | AR | c.*379C>T (n.*379C>T) c.2031C>T (p.Val677=) c.658C>T (n.658C>T) c.435C>T (p.Val145=) c.1461C>T (p.Val487=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711548C>A | CA413423265 | AR | c.*380C>A (n.*380C>A) c.2032C>A (p.Leu678Met) c.659C>A (n.659C>A) c.436C>A (p.Leu146Met) c.1462C>A (p.Leu488Met) | dbSNP |
| X | g.67711548C>G | CA413423266 | AR | c.*380C>G (n.*380C>G) c.2032C>G (p.Leu678Val) c.659C>G (n.659C>G) c.436C>G (p.Leu146Val) c.1462C>G (p.Leu488Val) | dbSNP |
| X | g.67711548C>T | CA517048341 | AR | c.*380C>T (n.*380C>T) c.2032C>T (p.Leu678=) c.659C>T (n.659C>T) c.436C>T (p.Leu146=) c.1462C>T (p.Leu488=) | dbSNP |
| X | g.67711549T>A | CA413423267 | AR | c.*381T>A (n.*381T>A) c.2033T>A (p.Leu678Gln) c.660T>A (n.660T>A) c.437T>A (p.Leu146Gln) c.1463T>A (p.Leu488Gln) | |
| X | g.67711549T>C | CA120740 | AR | c.*381T>C (n.*381T>C) c.2033T>C (p.Leu678Pro) c.660T>C (n.660T>C) c.437T>C (p.Leu146Pro) c.1463T>C (p.Leu488Pro) | ClinVar dbSNP |
| X | g.67711549T>G | CA413423268 | AR | c.*381T>G (n.*381T>G) c.2033T>G (p.Leu678Arg) c.660T>G (n.660T>G) c.437T>G (p.Leu146Arg) c.1463T>G (p.Leu488Arg) | |
| X | g.67711549T= | CA2435130481 | AR | c.*381T= (n.*381T=) c.2033T= (p.Leu678=) c.660T= (n.660T=) c.437T= (p.Leu146=) c.1463T= (p.Leu488=) | |
| X | g.67711550G>A | CA517048344 | AR | c.*382G>A (n.*382G>A) c.2034G>A (p.Leu678=) c.661G>A (n.661G>A) c.438G>A (p.Leu146=) c.1464G>A (p.Leu488=) | dbSNP |
| X | g.67711550G>C | CA517048343 | AR | c.*382G>C (n.*382G>C) c.2034G>C (p.Leu678=) c.661G>C (n.661G>C) c.438G>C (p.Leu146=) c.1464G>C (p.Leu488=) | dbSNP |
| X | g.67711550G>T | CA517048342 | AR | c.*382G>T (n.*382G>T) c.2034G>T (p.Leu678=) c.661G>T (n.661G>T) c.438G>T (p.Leu146=) c.1464G>T (p.Leu488=) | |
| X | g.67711551G>A | CA413423269 | AR | c.*383G>A (n.*383G>A) c.2035G>A (p.Glu679Lys) c.662G>A (n.662G>A) c.439G>A (p.Glu147Lys) c.1465G>A (p.Glu489Lys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711551G>C | CA413423270 | AR | c.*383G>C (n.*383G>C) c.2035G>C (p.Glu679Gln) c.662G>C (n.662G>C) c.439G>C (p.Glu147Gln) c.1465G>C (p.Glu489Gln) | dbSNP |
| X | g.67711551G= | CA2435130482 | AR | c.*383G= (n.*383G=) c.2035G= (p.Glu679=) c.662G= (n.662G=) c.439G= (p.Glu147=) c.1465G= (p.Glu489=) | |
| X | g.67711551G>T | CA413423271 | AR | c.*383G>T (n.*383G>T) c.2035G>T (p.Glu679Ter) c.662G>T (n.662G>T) c.439G>T (p.Glu147Ter) c.1465G>T (p.Glu489Ter) | dbSNP |
| X | g.67711552A>C | CA413423274 | AR | c.*384A>C (n.*384A>C) c.2036A>C (p.Glu679Ala) c.663A>C (n.663A>C) c.440A>C (p.Glu147Ala) c.1466A>C (p.Glu489Ala) | |
| X | g.67711552A>G | CA413423273 | AR | c.*384A>G (n.*384A>G) c.2036A>G (p.Glu679Gly) c.663A>G (n.663A>G) c.440A>G (p.Glu147Gly) c.1466A>G (p.Glu489Gly) | dbSNP |
| X | g.67711552A>T | CA413423272 | AR | c.*384A>T (n.*384A>T) c.2036A>T (p.Glu679Val) c.663A>T (n.663A>T) c.440A>T (p.Glu147Val) c.1466A>T (p.Glu489Val) | dbSNP |
| X | g.67711552_67711570delinsAAGCCATTGAGCCAGGTGT | CA2435130483 | AR | c.*384_*402delinsAAGCCATTGAGCCAGGTGT (n.*384_*402delinsAAGCCATTGAGCCAGGTGT) c.2036_2054delinsAAGCCATTGAGCCAGGTGT (p.Glu679=) c.663_681delinsAAGCCATTGAGCCAGGTGT (n.663_681delinsAAGCCATTGAGCCAGGTGT) c.440_458delinsAAGCCATTGAGCCAGGTGT (p.Glu147=) c.1466_1484delinsAAGCCATTGAGCCAGGTGT (p.Glu489=) | |
| X | g.67711553A= | CA2435130484 | AR | c.*385A= (n.*385A=) c.2037A= (p.Glu679=) c.664A= (n.664A=) c.441A= (p.Glu147=) c.1467A= (p.Glu489=) | |
| X | g.67711553A>C | CA413423275 | AR | c.*385A>C (n.*385A>C) c.2037A>C (p.Glu679Asp) c.664A>C (n.664A>C) c.441A>C (p.Glu147Asp) c.1467A>C (p.Glu489Asp) | ClinVar dbSNP |
| X | g.67711553A>G | CA517048350 | AR | c.*385A>G (n.*385A>G) c.2037A>G (p.Glu679=) c.664A>G (n.664A>G) c.441A>G (p.Glu147=) c.1467A>G (p.Glu489=) | dbSNP |
| X | g.67711553A>T | CA413423276 | AR | c.*385A>T (n.*385A>T) c.2037A>T (p.Glu679Asp) c.664A>T (n.664A>T) c.441A>T (p.Glu147Asp) c.1467A>T (p.Glu489Asp) | dbSNP |
| X | g.67711555_67711572del | CA16043328 | AR | c.*387_*404del (n.*387_*404del) c.2039_2056del (p.Ala680_Val685del) c.666_683del (n.666_683del) c.443_460del (p.Ala148_Val153del) c.1469_1486del (p.Ala490_Val495del) | ClinVar dbSNP |
| X | g.67711554G>A | CA413423277 | AR | c.*386G>A (n.*386G>A) c.2038G>A (p.Ala680Thr) c.665G>A (n.665G>A) c.442G>A (p.Ala148Thr) c.1468G>A (p.Ala490Thr) | dbSNP |
| X | g.67711554G>C | CA413423278 | AR | c.*386G>C (n.*386G>C) c.2038G>C (p.Ala680Pro) c.665G>C (n.665G>C) c.442G>C (p.Ala148Pro) c.1468G>C (p.Ala490Pro) | dbSNP |
| X | g.67711554G>T | CA413423279 | AR | c.*386G>T (n.*386G>T) c.2038G>T (p.Ala680Ser) c.665G>T (n.665G>T) c.442G>T (p.Ala148Ser) c.1468G>T (p.Ala490Ser) | |
| X | g.67711555C>A | CA413423280 | AR | c.*387C>A (n.*387C>A) c.2039C>A (p.Ala680Asp) c.666C>A (n.666C>A) c.443C>A (p.Ala148Asp) c.1469C>A (p.Ala490Asp) | |
| X | g.67711555C= | CA2435130485 | AR | c.*387C= (n.*387C=) c.2039C= (p.Ala680=) c.666C= (n.666C=) c.443C= (p.Ala148=) c.1469C= (p.Ala490=) | |
| X | g.67711555C>G | CA10436569 | AR | c.*387C>G (n.*387C>G) c.2039C>G (p.Ala680Gly) c.666C>G (n.666C>G) c.443C>G (p.Ala148Gly) c.1469C>G (p.Ala490Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67711555C>T | CA10436568 | AR | c.*387C>T (n.*387C>T) c.2039C>T (p.Ala680Val) c.666C>T (n.666C>T) c.443C>T (p.Ala148Val) c.1469C>T (p.Ala490Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67711556C>A | CA517048352 | AR | c.*388C>A (n.*388C>A) c.2040C>A (p.Ala680=) c.667C>A (n.667C>A) c.444C>A (p.Ala148=) c.1470C>A (p.Ala490=) | dbSNP |
| X | g.67711556C>G | CA517048355 | AR | c.*388C>G (n.*388C>G) c.2040C>G (p.Ala680=) c.667C>G (n.667C>G) c.444C>G (p.Ala148=) c.1470C>G (p.Ala490=) | dbSNP |
| X | g.67711556C>T | CA517048357 | AR | c.*388C>T (n.*388C>T) c.2040C>T (p.Ala680=) c.667C>T (n.667C>T) c.444C>T (p.Ala148=) c.1470C>T (p.Ala490=) | |
| X | g.67711557A>C | CA413423281 | AR | c.*389A>C (n.*389A>C) c.2041A>C (p.Ile681Leu) c.668A>C (n.668A>C) c.445A>C (p.Ile149Leu) c.1471A>C (p.Ile491Leu) | dbSNP |
| X | g.67711557A>G | CA413423282 | AR | c.*389A>G (n.*389A>G) c.2041A>G (p.Ile681Val) c.668A>G (n.668A>G) c.445A>G (p.Ile149Val) c.1471A>G (p.Ile491Val) | dbSNP |
| X | g.67711557A>T | CA413423283 | AR | c.*389A>T (n.*389A>T) c.2041A>T (p.Ile681Phe) c.668A>T (n.668A>T) c.445A>T (p.Ile149Phe) c.1471A>T (p.Ile491Phe) | dbSNP |
| X | g.67711558T>A | CA413423286 | AR | c.*390T>A (n.*390T>A) c.2042T>A (p.Ile681Asn) c.669T>A (n.669T>A) c.446T>A (p.Ile149Asn) c.1472T>A (p.Ile491Asn) | ClinVar dbSNP |