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.122284530T>A | CA354160326 | CASR | c.2345T>A (p.Ile782Asn) c.2606T>A (p.Ile869Asn) c.2576T>A (p.Ile859Asn) c.2093T>A (p.Ile698Asn) c.1988T>A (p.Ile663Asn) | ClinVar dbSNP |
| 3 | g.122284530T>C | CA354160327 | CASR | c.2345T>C (p.Ile782Thr) c.2606T>C (p.Ile869Thr) c.2576T>C (p.Ile859Thr) c.2093T>C (p.Ile698Thr) c.1988T>C (p.Ile663Thr) | ClinVar |
| 3 | g.122284530T>G | CA354160328 | CASR | c.2345T>G (p.Ile782Ser) c.2606T>G (p.Ile869Ser) c.2576T>G (p.Ile859Ser) c.2093T>G (p.Ile698Ser) c.1988T>G (p.Ile663Ser) | |
| 3 | g.122284531C>A | CA435425345 | CASR | c.2346C>A (p.Ile782=) c.2607C>A (p.Ile869=) c.2577C>A (p.Ile859=) c.2094C>A (p.Ile698=) c.1989C>A (p.Ile663=) | |
| 3 | g.122284531C>G | CA354160329 | CASR | c.2346C>G (p.Ile782Met) c.2607C>G (p.Ile869Met) c.2577C>G (p.Ile859Met) c.2094C>G (p.Ile698Met) c.1989C>G (p.Ile663Met) | |
| 3 | g.122284531C>T | CA435425346 | CASR | c.2346C>T (p.Ile782=) c.2607C>T (p.Ile869=) c.2577C>T (p.Ile859=) c.2094C>T (p.Ile698=) c.1989C>T (p.Ile663=) | |
| 3 | g.122284532A>C | CA354160332 | CASR | c.2347A>C (p.Ile783Leu) c.2608A>C (p.Ile870Leu) c.2578A>C (p.Ile860Leu) c.2095A>C (p.Ile699Leu) c.1990A>C (p.Ile664Leu) | |
| 3 | g.122284532A>G | CA354160330 | CASR | c.2347A>G (p.Ile783Val) c.2608A>G (p.Ile870Val) c.2578A>G (p.Ile860Val) c.2095A>G (p.Ile699Val) c.1990A>G (p.Ile664Val) | |
| 3 | g.122284532A>T | CA354160331 | CASR | c.2347A>T (p.Ile783Phe) c.2608A>T (p.Ile870Phe) c.2578A>T (p.Ile860Phe) c.2095A>T (p.Ile699Phe) c.1990A>T (p.Ile664Phe) | |
| 3 | g.122284533T>A | CA354160333 | CASR | c.2348T>A (p.Ile783Asn) c.2609T>A (p.Ile870Asn) c.2579T>A (p.Ile860Asn) c.2096T>A (p.Ile699Asn) c.1991T>A (p.Ile664Asn) | |
| 3 | g.122284533T>C | CA354160334 | CASR | c.2348T>C (p.Ile783Thr) c.2609T>C (p.Ile870Thr) c.2579T>C (p.Ile860Thr) c.2096T>C (p.Ile699Thr) c.1991T>C (p.Ile664Thr) | |
| 3 | g.122284533T>G | CA354160335 | CASR | c.2348T>G (p.Ile783Ser) c.2609T>G (p.Ile870Ser) c.2579T>G (p.Ile860Ser) c.2096T>G (p.Ile699Ser) c.1991T>G (p.Ile664Ser) | |
| 3 | g.122284534T>A | CA435425347 | CASR | c.2349T>A (p.Ile783=) c.2610T>A (p.Ile870=) c.2580T>A (p.Ile860=) c.2097T>A (p.Ile699=) c.1992T>A (p.Ile664=) | |
| 3 | g.122284534T>C | CA435425348 | CASR | c.2349T>C (p.Ile783=) c.2610T>C (p.Ile870=) c.2580T>C (p.Ile860=) c.2097T>C (p.Ile699=) c.1992T>C (p.Ile664=) | |
| 3 | g.122284534T>G | CA354160336 | CASR | c.2349T>G (p.Ile783Met) c.2610T>G (p.Ile870Met) c.2580T>G (p.Ile860Met) c.2097T>G (p.Ile699Met) c.1992T>G (p.Ile664Met) | |
| 3 | g.122284535C>A | CA354160337 | CASR | c.2350C>A (p.Leu784Ile) c.2611C>A (p.Leu871Ile) c.2581C>A (p.Leu861Ile) c.2098C>A (p.Leu700Ile) c.1993C>A (p.Leu665Ile) | |
| 3 | g.122284535C= | CA1397872575 | CASR | c.2350C= (p.Leu784=) c.2611C= (p.Leu871=) c.2581C= (p.Leu861=) c.2098C= (p.Leu700=) c.1993C= (p.Leu665=) | |
| 3 | g.122284535C>G | CA354160338 | CASR | c.2350C>G (p.Leu784Val) c.2611C>G (p.Leu871Val) c.2581C>G (p.Leu861Val) c.2098C>G (p.Leu700Val) c.1993C>G (p.Leu665Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284535C>T | CA354160339 | CASR | c.2350C>T (p.Leu784Phe) c.2611C>T (p.Leu871Phe) c.2581C>T (p.Leu861Phe) c.2098C>T (p.Leu700Phe) c.1993C>T (p.Leu665Phe) | |
| 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) |