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.67721848G>A | CA516970626 | AR | c.*682G>A (n.*682G>A) c.2334G>A (p.Lys778=) c.961G>A (n.961G>A) c.2174-1838G>A (n.2174-1838G>A) c.738G>A (p.Lys246=) c.1764G>A (p.Lys588=) | dbSNP |
| X | g.67721848G>C | CA413426426 | AR | c.*682G>C (n.*682G>C) c.2334G>C (p.Lys778Asn) c.961G>C (n.961G>C) c.2174-1838G>C (n.2174-1838G>C) c.738G>C (p.Lys246Asn) c.1764G>C (p.Lys588Asn) | dbSNP |
| X | g.67721848G= | CA2435134328 | AR | c.*682G= (n.*682G=) c.2334G= (p.Lys778=) c.961G= (n.961G=) c.2174-1838G= (n.2174-1838G=) c.738G= (p.Lys246=) c.1764G= (p.Lys588=) | |
| X | g.67721848G>T | CA413426428 | AR | c.*682G>T (n.*682G>T) c.2334G>T (p.Lys778Asn) c.961G>T (n.961G>T) c.2174-1838G>T (n.2174-1838G>T) c.738G>T (p.Lys246Asn) c.1764G>T (p.Lys588Asn) | ClinVar dbSNP |
| X | g.67721849T>A | CA413426432 | AR | c.*683T>A (n.*683T>A) c.2335T>A (p.Ser779Thr) c.962T>A (n.962T>A) c.2174-1837T>A (n.2174-1837T>A) c.739T>A (p.Ser247Thr) c.1765T>A (p.Ser589Thr) | |
| X | g.67721849T>C | CA413426433 | AR | c.*683T>C (n.*683T>C) c.2335T>C (p.Ser779Pro) c.962T>C (n.962T>C) c.2174-1837T>C (n.2174-1837T>C) c.739T>C (p.Ser247Pro) c.1765T>C (p.Ser589Pro) | |
| X | g.67721849T>G | CA413426435 | AR | c.*683T>G (n.*683T>G) c.2335T>G (p.Ser779Ala) c.962T>G (n.962T>G) c.2174-1837T>G (n.2174-1837T>G) c.739T>G (p.Ser247Ala) c.1765T>G (p.Ser589Ala) | |
| X | g.67721850C>A | CA413426438 | AR | c.*684C>A (n.*684C>A) c.2336C>A (p.Ser779Tyr) c.963C>A (n.963C>A) c.2174-1836C>A (n.2174-1836C>A) c.740C>A (p.Ser247Tyr) c.1766C>A (p.Ser589Tyr) | dbSNP |
| X | g.67721850C>G | CA413426439 | AR | c.*684C>G (n.*684C>G) c.2336C>G (p.Ser779Cys) c.963C>G (n.963C>G) c.2174-1836C>G (n.2174-1836C>G) c.740C>G (p.Ser247Cys) c.1766C>G (p.Ser589Cys) | dbSNP |
| X | g.67721850C>T | CA413426442 | AR | c.*684C>T (n.*684C>T) c.2336C>T (p.Ser779Phe) c.963C>T (n.963C>T) c.2174-1836C>T (n.2174-1836C>T) c.740C>T (p.Ser247Phe) c.1766C>T (p.Ser589Phe) | dbSNP |
| X | g.67721851C>A | CA516970636 | AR | c.*685C>A (n.*685C>A) c.2337C>A (p.Ser779=) c.964C>A (n.964C>A) c.2174-1835C>A (n.2174-1835C>A) c.741C>A (p.Ser247=) c.1767C>A (p.Ser589=) | dbSNP |
| X | g.67721851C= | CA2435134329 | AR | c.*685C= (n.*685C=) c.2337C= (p.Ser779=) c.964C= (n.964C=) c.2174-1835C= (n.2174-1835C=) c.741C= (p.Ser247=) c.1767C= (p.Ser589=) | |
| X | g.67721851C>G | CA516970637 | AR | c.*685C>G (n.*685C>G) c.2337C>G (p.Ser779=) c.964C>G (n.964C>G) c.2174-1835C>G (n.2174-1835C>G) c.741C>G (p.Ser247=) c.1767C>G (p.Ser589=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.67721851C>T | CA516970638 | AR | c.*685C>T (n.*685C>T) c.2337C>T (p.Ser779=) c.964C>T (n.964C>T) c.2174-1835C>T (n.2174-1835C>T) c.741C>T (p.Ser247=) c.1767C>T (p.Ser589=) | dbSNP gnomAD v4 |
| X | g.67721852C>A | CA516970640 | AR | c.*686C>A (n.*686C>A) c.2338C>A (p.Arg780=) c.965C>A (n.965C>A) c.2174-1834C>A (n.2174-1834C>A) c.742C>A (p.Arg248=) c.1768C>A (p.Arg590=) | dbSNP |
| X | g.67721852C= | CA2435134330 | AR | c.*686C= (n.*686C=) c.2338C= (p.Arg780=) c.965C= (n.965C=) c.2174-1834C= (n.2174-1834C=) c.742C= (p.Arg248=) c.1768C= (p.Arg590=) | |
| X | g.67721852C>G | CA413426445 | AR | c.*686C>G (n.*686C>G) c.2338C>G (p.Arg780Gly) c.965C>G (n.965C>G) c.2174-1834C>G (n.2174-1834C>G) c.742C>G (p.Arg248Gly) c.1768C>G (p.Arg590Gly) | dbSNP COSMIC COSMIC COSMIC |
| X | g.67721852C>T | CA413426446 | AR | c.*686C>T (n.*686C>T) c.2338C>T (p.Arg780Trp) c.965C>T (n.965C>T) c.2174-1834C>T (n.2174-1834C>T) c.742C>T (p.Arg248Trp) c.1768C>T (p.Arg590Trp) | ClinVar dbSNP gnomAD v4 |
| X | g.67721853G>A | CA10436626 | AR | c.*687G>A (n.*687G>A) c.2339G>A (p.Arg780Gln) c.966G>A (n.966G>A) c.2174-1833G>A (n.2174-1833G>A) c.743G>A (p.Arg248Gln) c.1769G>A (p.Arg590Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.67721853G>C | CA413426453 | AR | c.*687G>C (n.*687G>C) c.2339G>C (p.Arg780Pro) c.966G>C (n.966G>C) c.2174-1833G>C (n.2174-1833G>C) c.743G>C (p.Arg248Pro) c.1769G>C (p.Arg590Pro) | ClinVar dbSNP |
| X | g.67721853G= | CA2435134331 | AR | c.*687G= (n.*687G=) c.2339G= (p.Arg780=) c.966G= (n.966G=) c.2174-1833G= (n.2174-1833G=) c.743G= (p.Arg248=) c.1769G= (p.Arg590=) | |
| X | g.67721853G>T | CA413426450 | AR | c.*687G>T (n.*687G>T) c.2339G>T (p.Arg780Leu) c.966G>T (n.966G>T) c.2174-1833G>T (n.2174-1833G>T) c.743G>T (p.Arg248Leu) c.1769G>T (p.Arg590Leu) | |
| X | g.67721854G>A | CA516970657 | AR | c.*688G>A (n.*688G>A) c.2340G>A (p.Arg780=) c.967G>A (n.967G>A) c.2174-1832G>A (n.2174-1832G>A) c.744G>A (p.Arg248=) c.1770G>A (p.Arg590=) | dbSNP |
| X | g.67721854G>C | CA516970656 | AR | c.*688G>C (n.*688G>C) c.2340G>C (p.Arg780=) c.967G>C (n.967G>C) c.2174-1832G>C (n.2174-1832G>C) c.744G>C (p.Arg248=) c.1770G>C (p.Arg590=) | dbSNP |
| X | g.67721854G= | CA2435134332 | AR | c.*688G= (n.*688G=) c.2340G= (p.Arg780=) c.967G= (n.967G=) c.2174-1832G= (n.2174-1832G=) c.744G= (p.Arg248=) c.1770G= (p.Arg590=) | |
| X | g.67721854G>T | CA516970654 | AR | c.*688G>T (n.*688G>T) c.2340G>T (p.Arg780=) c.967G>T (n.967G>T) c.2174-1832G>T (n.2174-1832G>T) c.744G>T (p.Arg248=) c.1770G>T (p.Arg590=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.67721855A>C | CA413426456 | AR | c.*689A>C (n.*689A>C) c.2341A>C (p.Met781Leu) c.968A>C (n.968A>C) c.2174-1831A>C (n.2174-1831A>C) c.745A>C (p.Met249Leu) c.1771A>C (p.Met591Leu) | |
| X | g.67721855A>G | CA413426458 | AR | c.*689A>G (n.*689A>G) c.2341A>G (p.Met781Val) c.968A>G (n.968A>G) c.2174-1831A>G (n.2174-1831A>G) c.745A>G (p.Met249Val) c.1771A>G (p.Met591Val) | dbSNP |
| X | g.67721855A>T | CA413426460 | AR | c.*689A>T (n.*689A>T) c.2341A>T (p.Met781Leu) c.968A>T (n.968A>T) c.2174-1831A>T (n.2174-1831A>T) c.745A>T (p.Met249Leu) c.1771A>T (p.Met591Leu) | gnomAD v4 |
| X | g.67721856T>A | CA413426462 | AR | c.*690T>A (n.*690T>A) c.2342T>A (p.Met781Lys) c.969T>A (n.969T>A) c.2174-1830T>A (n.2174-1830T>A) c.746T>A (p.Met249Lys) c.1772T>A (p.Met591Lys) | ClinVar dbSNP |
| X | g.67721856T>C | CA413426465 | AR | c.*690T>C (n.*690T>C) c.2342T>C (p.Met781Thr) c.969T>C (n.969T>C) c.2174-1830T>C (n.2174-1830T>C) c.746T>C (p.Met249Thr) c.1772T>C (p.Met591Thr) | |
| X | g.67721856T>G | CA413426468 | AR | c.*690T>G (n.*690T>G) c.2342T>G (p.Met781Arg) c.969T>G (n.969T>G) c.2174-1830T>G (n.2174-1830T>G) c.746T>G (p.Met249Arg) c.1772T>G (p.Met591Arg) | |
| X | g.67721856T= | CA2435134333 | AR | c.*690T= (n.*690T=) c.2342T= (p.Met781=) c.969T= (n.969T=) c.2174-1830T= (n.2174-1830T=) c.746T= (p.Met249=) c.1772T= (p.Met591=) | |
| X | g.67721857G>A | CA413426471 | AR | c.*691G>A (n.*691G>A) c.2343G>A (p.Met781Ile) c.970G>A (n.970G>A) c.2174-1829G>A (n.2174-1829G>A) c.747G>A (p.Met249Ile) c.1773G>A (p.Met591Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.67721857G>C | CA413426473 | AR | c.*691G>C (n.*691G>C) c.2343G>C (p.Met781Ile) c.970G>C (n.970G>C) c.2174-1829G>C (n.2174-1829G>C) c.747G>C (p.Met249Ile) c.1773G>C (p.Met591Ile) | dbSNP |
| X | g.67721857G= | CA2435134334 | AR | c.*691G= (n.*691G=) c.2343G= (p.Met781=) c.970G= (n.970G=) c.2174-1829G= (n.2174-1829G=) c.747G= (p.Met249=) c.1773G= (p.Met591=) | |
| X | g.67721857G>T | CA120769 | AR | c.*691G>T (n.*691G>T) c.2343G>T (p.Met781Ile) c.970G>T (n.970G>T) c.2174-1829G>T (n.2174-1829G>T) c.747G>T (p.Met249Ile) c.1773G>T (p.Met591Ile) | ClinVar dbSNP |
| X | g.67721858T>A | CA413426478 | AR | c.*692T>A (n.*692T>A) c.2344T>A (p.Tyr782Asn) c.971T>A (n.971T>A) c.2174-1828T>A (n.2174-1828T>A) c.748T>A (p.Tyr250Asn) c.1774T>A (p.Tyr592Asn) | dbSNP |
| X | g.67721858T>C | CA413426480 | AR | c.*692T>C (n.*692T>C) c.2344T>C (p.Tyr782His) c.971T>C (n.971T>C) c.2174-1828T>C (n.2174-1828T>C) c.748T>C (p.Tyr250His) c.1774T>C (p.Tyr592His) | |
| X | g.67721858T>G | CA413426483 | AR | c.*692T>G (n.*692T>G) c.2344T>G (p.Tyr782Asp) c.971T>G (n.971T>G) c.2174-1828T>G (n.2174-1828T>G) c.748T>G (p.Tyr250Asp) c.1774T>G (p.Tyr592Asp) | ClinVar dbSNP |
| X | g.67721859A>C | CA413426491 | AR | c.*693A>C (n.*693A>C) c.2345A>C (p.Tyr782Ser) c.972A>C (n.972A>C) c.2174-1827A>C (n.2174-1827A>C) c.749A>C (p.Tyr250Ser) c.1775A>C (p.Tyr592Ser) | dbSNP |
| X | g.67721859A>G | CA413426486 | AR | c.*693A>G (n.*693A>G) c.2345A>G (p.Tyr782Cys) c.972A>G (n.972A>G) c.2174-1827A>G (n.2174-1827A>G) c.749A>G (p.Tyr250Cys) c.1775A>G (p.Tyr592Cys) | ClinVar dbSNP |
| X | g.67721859A>T | CA413426489 | AR | c.*693A>T (n.*693A>T) c.2345A>T (p.Tyr782Phe) c.972A>T (n.972A>T) c.2174-1827A>T (n.2174-1827A>T) c.749A>T (p.Tyr250Phe) c.1775A>T (p.Tyr592Phe) | dbSNP |
| X | g.67721860C>A | CA413426494 | AR | c.*694C>A (n.*694C>A) c.2346C>A (p.Tyr782Ter) c.973C>A (n.973C>A) c.2174-1826C>A (n.2174-1826C>A) c.750C>A (p.Tyr250Ter) c.1776C>A (p.Tyr592Ter) | dbSNP |
| X | g.67721860C= | CA2435134335 | AR | c.*694C= (n.*694C=) c.2346C= (p.Tyr782=) c.973C= (n.973C=) c.2174-1826C= (n.2174-1826C=) c.750C= (p.Tyr250=) c.1776C= (p.Tyr592=) | |
| X | g.67721860C>G | CA413426497 | AR | c.*694C>G (n.*694C>G) c.2346C>G (p.Tyr782Ter) c.973C>G (n.973C>G) c.2174-1826C>G (n.2174-1826C>G) c.750C>G (p.Tyr250Ter) c.1776C>G (p.Tyr592Ter) | dbSNP |
| X | g.67721860C>T | CA10436627 | AR | c.*694C>T (n.*694C>T) c.2346C>T (p.Tyr782=) c.973C>T (n.973C>T) c.2174-1826C>T (n.2174-1826C>T) c.750C>T (p.Tyr250=) c.1776C>T (p.Tyr592=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67721861A= | CA2435134336 | AR | c.*695A= (n.*695A=) c.2347A= (p.Ser783=) c.974A= (n.974A=) c.2174-1825A= (n.2174-1825A=) c.751A= (p.Ser251=) c.1777A= (p.Ser593=) | |
| X | g.67721861A>C | CA413426501 | AR | c.*695A>C (n.*695A>C) c.2347A>C (p.Ser783Arg) c.974A>C (n.974A>C) c.2174-1825A>C (n.2174-1825A>C) c.751A>C (p.Ser251Arg) c.1777A>C (p.Ser593Arg) | |
| X | g.67721861A>G | CA10436628 | AR | c.*695A>G (n.*695A>G) c.2347A>G (p.Ser783Gly) c.974A>G (n.974A>G) c.2174-1825A>G (n.2174-1825A>G) c.751A>G (p.Ser251Gly) c.1777A>G (p.Ser593Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |