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.122284536T>A | CA354160340 | CASR | c.2351T>A (p.Leu784His) c.2612T>A (p.Leu871His) c.2582T>A (p.Leu861His) c.2099T>A (p.Leu700His) c.1994T>A (p.Leu665His) | |
| 3 | g.122284536T>C | CA354160341 | CASR | c.2351T>C (p.Leu784Pro) c.2612T>C (p.Leu871Pro) c.2582T>C (p.Leu861Pro) c.2099T>C (p.Leu700Pro) c.1994T>C (p.Leu665Pro) | ClinVar |
| 3 | g.122284536T>G | CA354160342 | CASR | c.2351T>G (p.Leu784Arg) c.2612T>G (p.Leu871Arg) c.2582T>G (p.Leu861Arg) c.2099T>G (p.Leu700Arg) c.1994T>G (p.Leu665Arg) | |
| 3 | g.122284537C>A | CA435425349 | CASR | c.2352C>A (p.Leu784=) c.2613C>A (p.Leu871=) c.2583C>A (p.Leu861=) c.2100C>A (p.Leu700=) c.1995C>A (p.Leu665=) | |
| 3 | g.122284537C>G | CA435425350 | CASR | c.2352C>G (p.Leu784=) c.2613C>G (p.Leu871=) c.2583C>G (p.Leu861=) c.2100C>G (p.Leu700=) c.1995C>G (p.Leu665=) | |
| 3 | g.122284537C>T | CA435425351 | CASR | c.2352C>T (p.Leu784=) c.2613C>T (p.Leu871=) c.2583C>T (p.Leu861=) c.2100C>T (p.Leu700=) c.1995C>T (p.Leu665=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284538T>A | CA354160343 | CASR | c.2353T>A (p.Phe785Ile) c.2614T>A (p.Phe872Ile) c.2584T>A (p.Phe862Ile) c.2101T>A (p.Phe701Ile) c.1996T>A (p.Phe666Ile) | |
| 3 | g.122284538T>C | CA354160344 | CASR | c.2353T>C (p.Phe785Leu) c.2614T>C (p.Phe872Leu) c.2584T>C (p.Phe862Leu) c.2101T>C (p.Phe701Leu) c.1996T>C (p.Phe666Leu) | |
| 3 | g.122284538T>G | CA354160345 | CASR | c.2353T>G (p.Phe785Val) c.2614T>G (p.Phe872Val) c.2584T>G (p.Phe862Val) c.2101T>G (p.Phe701Val) c.1996T>G (p.Phe666Val) | |
| 3 | g.122284539T>A | CA354160347 | CASR | c.2354T>A (p.Phe785Tyr) c.2615T>A (p.Phe872Tyr) c.2585T>A (p.Phe862Tyr) c.2102T>A (p.Phe701Tyr) c.1997T>A (p.Phe666Tyr) | |
| 3 | g.122284539T>C | CA2569836 | CASR | c.2354T>C (p.Phe785Ser) c.2615T>C (p.Phe872Ser) c.2585T>C (p.Phe862Ser) c.2102T>C (p.Phe701Ser) c.1997T>C (p.Phe666Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284539T>G | CA354160346 | CASR | c.2354T>G (p.Phe785Cys) c.2615T>G (p.Phe872Cys) c.2585T>G (p.Phe862Cys) c.2102T>G (p.Phe701Cys) c.1997T>G (p.Phe666Cys) | |
| 3 | g.122284539T= | CA1397872582 | CASR | c.2354T= (p.Phe785=) c.2615T= (p.Phe872=) c.2585T= (p.Phe862=) c.2102T= (p.Phe701=) c.1997T= (p.Phe666=) | |
| 3 | g.122284540C>A | CA354160348 | CASR | c.2355C>A (p.Phe785Leu) c.2616C>A (p.Phe872Leu) c.2586C>A (p.Phe862Leu) c.2103C>A (p.Phe701Leu) c.1998C>A (p.Phe666Leu) | |
| 3 | g.122284540C>G | CA354160349 | CASR | c.2355C>G (p.Phe785Leu) c.2616C>G (p.Phe872Leu) c.2586C>G (p.Phe862Leu) c.2103C>G (p.Phe701Leu) c.1998C>G (p.Phe666Leu) | |
| 3 | g.122284540C>T | CA435425352 | CASR | c.2355C>T (p.Phe785=) c.2616C>T (p.Phe872=) c.2586C>T (p.Phe862=) c.2103C>T (p.Phe701=) c.1998C>T (p.Phe666=) | dbSNP |
| 3 | g.122284541A>C | CA354160350 | CASR | c.2356A>C (p.Lys786Gln) c.2617A>C (p.Lys873Gln) c.2587A>C (p.Lys863Gln) c.2104A>C (p.Lys702Gln) c.1999A>C (p.Lys667Gln) | |
| 3 | g.122284541A>G | CA354160351 | CASR | c.2356A>G (p.Lys786Glu) c.2617A>G (p.Lys873Glu) c.2587A>G (p.Lys863Glu) c.2104A>G (p.Lys702Glu) c.1999A>G (p.Lys667Glu) | |
| 3 | g.122284541A>T | CA354160352 | CASR | c.2356A>T (p.Lys786Ter) c.2617A>T (p.Lys873Ter) c.2587A>T (p.Lys863Ter) c.2104A>T (p.Lys702Ter) c.1999A>T (p.Lys667Ter) | |
| 3 | g.122284542A>C | CA354160353 | CASR | c.2357A>C (p.Lys786Thr) c.2618A>C (p.Lys873Thr) c.2588A>C (p.Lys863Thr) c.2105A>C (p.Lys702Thr) c.2000A>C (p.Lys667Thr) | |
| 3 | g.122284542A>G | CA354160354 | CASR | c.2357A>G (p.Lys786Arg) c.2618A>G (p.Lys873Arg) c.2588A>G (p.Lys863Arg) c.2105A>G (p.Lys702Arg) c.2000A>G (p.Lys667Arg) | |
| 3 | g.122284542A>T | CA354160355 | CASR | c.2357A>T (p.Lys786Met) c.2618A>T (p.Lys873Met) c.2588A>T (p.Lys863Met) c.2105A>T (p.Lys702Met) c.2000A>T (p.Lys667Met) | |
| 3 | g.122284543G>A | CA435425353 | CASR | c.2358G>A (p.Lys786=) c.2619G>A (p.Lys873=) c.2589G>A (p.Lys863=) c.2106G>A (p.Lys702=) c.2001G>A (p.Lys667=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284543G>C | CA354160356 | CASR | c.2358G>C (p.Lys786Asn) c.2619G>C (p.Lys873Asn) c.2589G>C (p.Lys863Asn) c.2106G>C (p.Lys702Asn) c.2001G>C (p.Lys667Asn) | |
| 3 | g.122284543G= | CA1397872584 | CASR | c.2358G= (p.Lys786=) c.2619G= (p.Lys873=) c.2589G= (p.Lys863=) c.2106G= (p.Lys702=) c.2001G= (p.Lys667=) | |
| 3 | g.122284543G>T | CA354160357 | CASR | c.2358G>T (p.Lys786Asn) c.2619G>T (p.Lys873Asn) c.2589G>T (p.Lys863Asn) c.2106G>T (p.Lys702Asn) c.2001G>T (p.Lys667Asn) | |
| 3 | g.122284544C>A | CA354160358 | CASR | c.2359C>A (p.Pro787Thr) c.2620C>A (p.Pro874Thr) c.2590C>A (p.Pro864Thr) c.2107C>A (p.Pro703Thr) c.2002C>A (p.Pro668Thr) | |
| 3 | g.122284544C>G | CA354160359 | CASR | c.2359C>G (p.Pro787Ala) c.2620C>G (p.Pro874Ala) c.2590C>G (p.Pro864Ala) c.2107C>G (p.Pro703Ala) c.2002C>G (p.Pro668Ala) | |
| 3 | g.122284544C>T | CA354160360 | CASR | c.2359C>T (p.Pro787Ser) c.2620C>T (p.Pro874Ser) c.2590C>T (p.Pro864Ser) c.2107C>T (p.Pro703Ser) c.2002C>T (p.Pro668Ser) | COSMIC |
| 3 | g.122284545C>A | CA354160363 | CASR | c.2360C>A (p.Pro787Gln) c.2621C>A (p.Pro874Gln) c.2591C>A (p.Pro864Gln) c.2108C>A (p.Pro703Gln) c.2003C>A (p.Pro668Gln) | |
| 3 | g.122284545C>G | CA354160361 | CASR | c.2360C>G (p.Pro787Arg) c.2621C>G (p.Pro874Arg) c.2591C>G (p.Pro864Arg) c.2108C>G (p.Pro703Arg) c.2003C>G (p.Pro668Arg) | |
| 3 | g.122284545C>T | CA354160362 | CASR | c.2360C>T (p.Pro787Leu) c.2621C>T (p.Pro874Leu) c.2591C>T (p.Pro864Leu) c.2108C>T (p.Pro703Leu) c.2003C>T (p.Pro668Leu) | COSMIC |
| 3 | g.122284546A>C | CA435425354 | CASR | c.2361A>C (p.Pro787=) c.2622A>C (p.Pro874=) c.2592A>C (p.Pro864=) c.2109A>C (p.Pro703=) c.2004A>C (p.Pro668=) | |
| 3 | g.122284546A>G | CA435425356 | CASR | c.2361A>G (p.Pro787=) c.2622A>G (p.Pro874=) c.2592A>G (p.Pro864=) c.2109A>G (p.Pro703=) c.2004A>G (p.Pro668=) | ClinVar |
| 3 | g.122284546A>T | CA435425355 | CASR | c.2361A>T (p.Pro787=) c.2622A>T (p.Pro874=) c.2592A>T (p.Pro864=) c.2109A>T (p.Pro703=) c.2004A>T (p.Pro668=) | |
| 3 | g.122284547T>A | CA354160364 | CASR | c.2362T>A (p.Ser788Thr) c.2623T>A (p.Ser875Thr) c.2593T>A (p.Ser865Thr) c.2110T>A (p.Ser704Thr) c.2005T>A (p.Ser669Thr) | |
| 3 | g.122284547T>C | CA354160365 | CASR | c.2362T>C (p.Ser788Pro) c.2623T>C (p.Ser875Pro) c.2593T>C (p.Ser865Pro) c.2110T>C (p.Ser704Pro) c.2005T>C (p.Ser669Pro) | |
| 3 | g.122284547T>G | CA354160366 | CASR | c.2362T>G (p.Ser788Ala) c.2623T>G (p.Ser875Ala) c.2593T>G (p.Ser865Ala) c.2110T>G (p.Ser704Ala) c.2005T>G (p.Ser669Ala) | |
| 3 | g.122284548C>A | CA354160367 | CASR | c.2363C>A (p.Ser788Tyr) c.2624C>A (p.Ser875Tyr) c.2594C>A (p.Ser865Tyr) c.2111C>A (p.Ser704Tyr) c.2006C>A (p.Ser669Tyr) | |
| 3 | g.122284548C= | CA1397872587 | CASR | c.2363C= (p.Ser788=) c.2624C= (p.Ser875=) c.2594C= (p.Ser865=) c.2111C= (p.Ser704=) c.2006C= (p.Ser669=) | |
| 3 | g.122284548C>G | CA354160368 | CASR | c.2363C>G (p.Ser788Cys) c.2624C>G (p.Ser875Cys) c.2594C>G (p.Ser865Cys) c.2111C>G (p.Ser704Cys) c.2006C>G (p.Ser669Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284548C>T | CA354160369 | CASR | c.2363C>T (p.Ser788Phe) c.2624C>T (p.Ser875Phe) c.2594C>T (p.Ser865Phe) c.2111C>T (p.Ser704Phe) c.2006C>T (p.Ser669Phe) | ClinVar dbSNP |
| 3 | g.122284550del | CA2586972874 | CASR | c.2365del (p.Arg789AlafsTer?) c.2626del (p.Arg876AlafsTer?) c.2596del (p.Arg866AlafsTer?) c.2113del (p.Arg705AlafsTer?) c.2008del (p.Arg670AlafsTer?) | |
| 3 | g.122284549C>A | CA435425357 | CASR | c.2364C>A (p.Ser788=) c.2625C>A (p.Ser875=) c.2595C>A (p.Ser865=) c.2112C>A (p.Ser704=) c.2007C>A (p.Ser669=) | |
| 3 | g.122284549C>G | CA435425358 | CASR | c.2364C>G (p.Ser788=) c.2625C>G (p.Ser875=) c.2595C>G (p.Ser865=) c.2112C>G (p.Ser704=) c.2007C>G (p.Ser669=) | |
| 3 | g.122284549C>T | CA435425359 | CASR | c.2364C>T (p.Ser788=) c.2625C>T (p.Ser875=) c.2595C>T (p.Ser865=) c.2112C>T (p.Ser704=) c.2007C>T (p.Ser669=) | |
| 3 | g.122284550C>A | CA354160370 | CASR | c.2365C>A (p.Arg789Ser) c.2626C>A (p.Arg876Ser) c.2596C>A (p.Arg866Ser) c.2113C>A (p.Arg705Ser) c.2008C>A (p.Arg670Ser) | |
| 3 | g.122284550C= | CA1397872590 | CASR | c.2365C= (p.Arg789=) c.2626C= (p.Arg876=) c.2596C= (p.Arg866=) c.2113C= (p.Arg705=) c.2008C= (p.Arg670=) | |
| 3 | g.122284550C>G | CA354160371 | CASR | c.2365C>G (p.Arg789Gly) c.2626C>G (p.Arg876Gly) c.2596C>G (p.Arg866Gly) c.2113C>G (p.Arg705Gly) c.2008C>G (p.Arg670Gly) | ClinVar |
| 3 | g.122284550C>T | CA354160372 | CASR | c.2365C>T (p.Arg789Cys) c.2626C>T (p.Arg876Cys) c.2596C>T (p.Arg866Cys) c.2113C>T (p.Arg705Cys) c.2008C>T (p.Arg670Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |