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.67711653C>A | CA16608973 | AR | c.*485C>A (n.*485C>A) c.2137C>A (p.Leu713Ile) c.764C>A (n.764C>A) c.541C>A (p.Leu181Ile) c.1567C>A (p.Leu523Ile) | ClinVar dbSNP |
| X | g.67711653C= | CA2435130522 | AR | c.*485C= (n.*485C=) c.2137C= (p.Leu713=) c.764C= (n.764C=) c.541C= (p.Leu181=) c.1567C= (p.Leu523=) | |
| X | g.67711653C>G | CA413423494 | AR | c.*485C>G (n.*485C>G) c.2137C>G (p.Leu713Val) c.764C>G (n.764C>G) c.541C>G (p.Leu181Val) c.1567C>G (p.Leu523Val) | dbSNP |
| X | g.67711653C>T | CA254900 | AR | c.*485C>T (n.*485C>T) c.2137C>T (p.Leu713Phe) c.764C>T (n.764C>T) c.541C>T (p.Leu181Phe) c.1567C>T (p.Leu523Phe) | ClinVar dbSNP |
| X | g.67711654T>A | CA413423495 | AR | c.*486T>A (n.*486T>A) c.2138T>A (p.Leu713His) c.765T>A (n.765T>A) c.542T>A (p.Leu181His) c.1568T>A (p.Leu523His) | dbSNP |
| X | g.67711654T>C | CA413423496 | AR | c.*486T>C (n.*486T>C) c.2138T>C (p.Leu713Pro) c.765T>C (n.765T>C) c.542T>C (p.Leu181Pro) c.1568T>C (p.Leu523Pro) | dbSNP |
| X | g.67711654T>G | CA413423497 | AR | c.*486T>G (n.*486T>G) c.2138T>G (p.Leu713Arg) c.765T>G (n.765T>G) c.542T>G (p.Leu181Arg) c.1568T>G (p.Leu523Arg) | |
| X | g.67711655T>A | CA517048610 | AR | c.*487T>A (n.*487T>A) c.2139T>A (p.Leu713=) c.766T>A (n.766T>A) c.543T>A (p.Leu181=) c.1569T>A (p.Leu523=) | dbSNP |
| X | g.67711655T>C | CA517048613 | AR | c.*487T>C (n.*487T>C) c.2139T>C (p.Leu713=) c.766T>C (n.766T>C) c.543T>C (p.Leu181=) c.1569T>C (p.Leu523=) | dbSNP |
| X | g.67711655T>G | CA517048616 | AR | c.*487T>G (n.*487T>G) c.2139T>G (p.Leu713=) c.766T>G (n.766T>G) c.543T>G (p.Leu181=) c.1569T>G (p.Leu523=) | |
| X | g.67711656G>A | CA413423498 | AR | c.*488G>A (n.*488G>A) c.2140G>A (p.Val714Ile) c.767G>A (n.767G>A) c.544G>A (p.Val182Ile) c.1570G>A (p.Val524Ile) | dbSNP gnomAD v2 |
| X | g.67711656G>C | CA413423499 | AR | c.*488G>C (n.*488G>C) c.2140G>C (p.Val714Leu) c.767G>C (n.767G>C) c.544G>C (p.Val182Leu) c.1570G>C (p.Val524Leu) | dbSNP |
| X | g.67711656G= | CA2435130523 | AR | c.*488G= (n.*488G=) c.2140G= (p.Val714=) c.767G= (n.767G=) c.544G= (p.Val182=) c.1570G= (p.Val524=) | |
| X | g.67711656G>T | CA413423500 | AR | c.*488G>T (n.*488G>T) c.2140G>T (p.Val714Leu) c.767G>T (n.767G>T) c.544G>T (p.Val182Leu) c.1570G>T (p.Val524Leu) | |
| X | g.67711657T>A | CA413423501 | AR | c.*489T>A (n.*489T>A) c.2141T>A (p.Val714Glu) c.768T>A (n.768T>A) c.545T>A (p.Val182Glu) c.1571T>A (p.Val524Glu) | dbSNP |
| X | g.67711657T>C | CA413423502 | AR | c.*489T>C (n.*489T>C) c.2141T>C (p.Val714Ala) c.768T>C (n.768T>C) c.545T>C (p.Val182Ala) c.1571T>C (p.Val524Ala) | dbSNP |
| X | g.67711657T>G | CA413423503 | AR | c.*489T>G (n.*489T>G) c.2141T>G (p.Val714Gly) c.768T>G (n.768T>G) c.545T>G (p.Val182Gly) c.1571T>G (p.Val524Gly) | dbSNP |
| X | g.67711658A>C | CA517048621 | AR | c.*490A>C (n.*490A>C) c.2142A>C (p.Val714=) c.769A>C (n.769A>C) c.546A>C (p.Val182=) c.1572A>C (p.Val524=) | dbSNP |
| X | g.67711658A>G | CA517048624 | AR | c.*490A>G (n.*490A>G) c.2142A>G (p.Val714=) c.769A>G (n.769A>G) c.546A>G (p.Val182=) c.1572A>G (p.Val524=) | ClinVar dbSNP gnomAD v4 |
| X | g.67711658A>T | CA517048625 | AR | c.*490A>T (n.*490A>T) c.2142A>T (p.Val714=) c.769A>T (n.769A>T) c.546A>T (p.Val182=) c.1572A>T (p.Val524=) | dbSNP |
| X | g.67711659C>A | CA413423504 | AR | c.*491C>A (n.*491C>A) c.2143C>A (p.His715Asn) c.770C>A (n.770C>A) c.547C>A (p.His183Asn) c.1573C>A (p.His525Asn) | gnomAD v4 |
| X | g.67711659C= | CA2435130524 | AR | c.*491C= (n.*491C=) c.2143C= (p.His715=) c.770C= (n.770C=) c.547C= (p.His183=) c.1573C= (p.His525=) | |
| X | g.67711659C>G | CA413423505 | AR | c.*491C>G (n.*491C>G) c.2143C>G (p.His715Asp) c.770C>G (n.770C>G) c.547C>G (p.His183Asp) c.1573C>G (p.His525Asp) | dbSNP |
| X | g.67711659C>T | CA413423506 | AR | c.*491C>T (n.*491C>T) c.2143C>T (p.His715Tyr) c.770C>T (n.770C>T) c.547C>T (p.His183Tyr) c.1573C>T (p.His525Tyr) | dbSNP |
| X | g.67711660A>C | CA413423509 | AR | c.*492A>C (n.*492A>C) c.2144A>C (p.His715Pro) c.771A>C (n.771A>C) c.548A>C (p.His183Pro) c.1574A>C (p.His525Pro) | dbSNP |
| X | g.67711660A>G | CA413423507 | AR | c.*492A>G (n.*492A>G) c.2144A>G (p.His715Arg) c.771A>G (n.771A>G) c.548A>G (p.His183Arg) c.1574A>G (p.His525Arg) | |
| X | g.67711660A>T | CA413423508 | AR | c.*492A>T (n.*492A>T) c.2144A>T (p.His715Leu) c.771A>T (n.771A>T) c.548A>T (p.His183Leu) c.1574A>T (p.His525Leu) | dbSNP |
| X | g.67711661C>A | CA413423510 | AR | c.*493C>A (n.*493C>A) c.2145C>A (p.His715Gln) c.772C>A (n.772C>A) c.549C>A (p.His183Gln) c.1575C>A (p.His525Gln) | dbSNP |
| X | g.67711661C= | CA2435130525 | AR | c.*493C= (n.*493C=) c.2145C= (p.His715=) c.772C= (n.772C=) c.549C= (p.His183=) c.1575C= (p.His525=) | |
| X | g.67711661C>G | CA413423511 | AR | c.*493C>G (n.*493C>G) c.2145C>G (p.His715Gln) c.772C>G (n.772C>G) c.549C>G (p.His183Gln) c.1575C>G (p.His525Gln) | dbSNP |
| X | g.67711661C>T | CA517048631 | AR | c.*493C>T (n.*493C>T) c.2145C>T (p.His715=) c.772C>T (n.772C>T) c.549C>T (p.His183=) c.1575C>T (p.His525=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711662G>A | CA413423512 | AR | c.*494G>A (n.*494G>A) c.2146G>A (p.Val716Met) c.773G>A (n.773G>A) c.550G>A (p.Val184Met) c.1576G>A (p.Val526Met) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.67711662G>C | CA413423513 | AR | c.*494G>C (n.*494G>C) c.2146G>C (p.Val716Leu) c.773G>C (n.773G>C) c.550G>C (p.Val184Leu) c.1576G>C (p.Val526Leu) | dbSNP |
| X | g.67711662G= | CA2435130526 | AR | c.*494G= (n.*494G=) c.2146G= (p.Val716=) c.773G= (n.773G=) c.550G= (p.Val184=) c.1576G= (p.Val526=) | |
| X | g.67711662G>T | CA413423514 | AR | c.*494G>T (n.*494G>T) c.2146G>T (p.Val716Leu) c.773G>T (n.773G>T) c.550G>T (p.Val184Leu) c.1576G>T (p.Val526Leu) | |
| X | g.67711663T>A | CA413423515 | AR | c.*495T>A (n.*495T>A) c.2147T>A (p.Val716Glu) c.774T>A (n.774T>A) c.551T>A (p.Val184Glu) c.1577T>A (p.Val526Glu) | |
| X | g.67711663T>C | CA413423516 | AR | c.*495T>C (n.*495T>C) c.2147T>C (p.Val716Ala) c.774T>C (n.774T>C) c.551T>C (p.Val184Ala) c.1577T>C (p.Val526Ala) | |
| X | g.67711663T>G | CA413423517 | AR | c.*495T>G (n.*495T>G) c.2147T>G (p.Val716Gly) c.774T>G (n.774T>G) c.551T>G (p.Val184Gly) c.1577T>G (p.Val526Gly) | |
| X | g.67711664G>A | CA517048642 | AR | c.*496G>A (n.*496G>A) c.2148G>A (p.Val716=) c.775G>A (n.775G>A) c.552G>A (p.Val184=) c.1578G>A (p.Val526=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711664G>C | CA517048645 | AR | c.*496G>C (n.*496G>C) c.2148G>C (p.Val716=) c.775G>C (n.775G>C) c.552G>C (p.Val184=) c.1578G>C (p.Val526=) | |
| X | g.67711664G= | CA2435130527 | AR | c.*496G= (n.*496G=) c.2148G= (p.Val716=) c.775G= (n.775G=) c.552G= (p.Val184=) c.1578G= (p.Val526=) | |
| X | g.67711664G>T | CA517048643 | AR | c.*496G>T (n.*496G>T) c.2148G>T (p.Val716=) c.775G>T (n.775G>T) c.552G>T (p.Val184=) c.1578G>T (p.Val526=) | gnomAD v4 |
| X | g.67711665G>A | CA413423518 | AR | c.*497G>A (n.*497G>A) c.2149G>A (p.Val717Ile) c.776G>A (n.776G>A) c.553G>A (p.Val185Ile) c.1579G>A (p.Val527Ile) | dbSNP |
| X | g.67711665G>C | CA413423519 | AR | c.*497G>C (n.*497G>C) c.2149G>C (p.Val717Leu) c.776G>C (n.776G>C) c.553G>C (p.Val185Leu) c.1579G>C (p.Val527Leu) | dbSNP |
| X | g.67711665G>T | CA413423520 | AR | c.*497G>T (n.*497G>T) c.2149G>T (p.Val717Phe) c.776G>T (n.776G>T) c.553G>T (p.Val185Phe) c.1579G>T (p.Val527Phe) | |
| X | g.67711666T>A | CA413423522 | AR | c.*498T>A (n.*498T>A) c.2150T>A (p.Val717Asp) c.777T>A (n.777T>A) c.554T>A (p.Val185Asp) c.1580T>A (p.Val527Asp) | |
| X | g.67711666T>C | CA413423523 | AR | c.*498T>C (n.*498T>C) c.2150T>C (p.Val717Ala) c.777T>C (n.777T>C) c.554T>C (p.Val185Ala) c.1580T>C (p.Val527Ala) | |
| X | g.67711666T>G | CA413423521 | AR | c.*498T>G (n.*498T>G) c.2150T>G (p.Val717Gly) c.777T>G (n.777T>G) c.554T>G (p.Val185Gly) c.1580T>G (p.Val527Gly) | |
| X | g.67711667C>A | CA517048651 | AR | c.*499C>A (n.*499C>A) c.2151C>A (p.Val717=) c.778C>A (n.778C>A) c.555C>A (p.Val185=) c.1581C>A (p.Val527=) | dbSNP gnomAD v4 |
| X | g.67711667C>G | CA517048654 | AR | c.*499C>G (n.*499C>G) c.2151C>G (p.Val717=) c.778C>G (n.778C>G) c.555C>G (p.Val185=) c.1581C>G (p.Val527=) | dbSNP |