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.130997710C>A | CA354537206 | ATP2C1 | c.2348C>A (p.Ser783Ter) c.2333C>A (p.Ser778Ter) c.2209C>A c.2300C>A (p.Ser767Ter) c.2450C>A (p.Ser817Ter) c.247C>A (n.247C>A) c.901C>A n.2518C>A c.2279C>A (p.Ser760Ter) c.1514C>A (p.Ser505Ter) | |
| 3 | g.130997710C>G | CA354537207 | ATP2C1 | c.2348C>G (p.Ser783Ter) c.2333C>G (p.Ser778Ter) c.2209C>G c.2300C>G (p.Ser767Ter) c.2450C>G (p.Ser817Ter) c.247C>G (n.247C>G) c.901C>G n.2518C>G c.2279C>G (p.Ser760Ter) c.1514C>G (p.Ser505Ter) | |
| 3 | g.130997710C>T | CA354537208 | ATP2C1 | c.2348C>T (p.Ser783Leu) c.2333C>T (p.Ser778Leu) c.2209C>T c.2300C>T (p.Ser767Leu) c.2450C>T (p.Ser817Leu) c.247C>T (n.247C>T) c.901C>T n.2518C>T c.2279C>T (p.Ser760Leu) c.1514C>T (p.Ser505Leu) | |
| 3 | g.130997711A= | CA1401883672 | ATP2C1 | c.2349A= (p.Ser783=) c.2334A= (p.Ser778=) c.2210A= c.2301A= (p.Ser767=) c.2451A= (p.Ser817=) c.248A= (n.248A=) c.902A= n.2519A= c.2280A= (p.Ser760=) c.1515A= (p.Ser505=) | |
| 3 | g.130997711A>C | CA435662407 | ATP2C1 | c.2349A>C (p.Ser783=) c.2334A>C (p.Ser778=) c.2210A>C c.2301A>C (p.Ser767=) c.2451A>C (p.Ser817=) c.248A>C (n.248A>C) c.902A>C n.2519A>C c.2280A>C (p.Ser760=) c.1515A>C (p.Ser505=) | |
| 3 | g.130997711A>G | CA435662408 | ATP2C1 | c.2349A>G (p.Ser783=) c.2334A>G (p.Ser778=) c.2210A>G c.2301A>G (p.Ser767=) c.2451A>G (p.Ser817=) c.248A>G (n.248A>G) c.902A>G n.2519A>G c.2280A>G (p.Ser760=) c.1515A>G (p.Ser505=) | dbSNP |
| 3 | g.130997711A>T | CA435662409 | ATP2C1 | c.2349A>T (p.Ser783=) c.2334A>T (p.Ser778=) c.2210A>T c.2301A>T (p.Ser767=) c.2451A>T (p.Ser817=) c.248A>T (n.248A>T) c.902A>T n.2519A>T c.2280A>T (p.Ser760=) c.1515A>T (p.Ser505=) | |
| 3 | g.130997712A= | CA1401883674 | ATP2C1 | c.2350A= (p.Ile784=) c.2335A= (p.Ile779=) c.2211A= c.2302A= (p.Ile768=) c.2452A= (p.Ile818=) c.249A= (n.249A=) c.903A= n.2520A= c.2281A= (p.Ile761=) c.1516A= (p.Ile506=) | |
| 3 | g.130997712A>C | CA354537209 | ATP2C1 | c.2350A>C (p.Ile784Leu) c.2335A>C (p.Ile779Leu) c.2211A>C c.2302A>C (p.Ile768Leu) c.2452A>C (p.Ile818Leu) c.249A>C (n.249A>C) c.903A>C n.2520A>C c.2281A>C (p.Ile761Leu) c.1516A>C (p.Ile506Leu) | |
| 3 | g.130997712A>G | CA2615366 | ATP2C1 | c.2350A>G (p.Ile784Val) c.2335A>G (p.Ile779Val) c.2211A>G c.2302A>G (p.Ile768Val) c.2452A>G (p.Ile818Val) c.249A>G (n.249A>G) c.903A>G n.2520A>G c.2281A>G (p.Ile761Val) c.1516A>G (p.Ile506Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.130997712A>T | CA354537210 | ATP2C1 | c.2350A>T (p.Ile784Leu) c.2335A>T (p.Ile779Leu) c.2211A>T c.2302A>T (p.Ile768Leu) c.2452A>T (p.Ile818Leu) c.249A>T (n.249A>T) c.903A>T n.2520A>T c.2281A>T (p.Ile761Leu) c.1516A>T (p.Ile506Leu) | |
| 3 | g.130997713T>A | CA354537211 | ATP2C1 | c.2351T>A (p.Ile784Lys) c.2336T>A (p.Ile779Lys) c.2212T>A c.2303T>A (p.Ile768Lys) c.2453T>A (p.Ile818Lys) c.250T>A (n.250T>A) c.904T>A n.2521T>A c.2282T>A (p.Ile761Lys) c.1517T>A (p.Ile506Lys) | |
| 3 | g.130997713T>C | CA354537212 | ATP2C1 | c.2351T>C (p.Ile784Thr) c.2336T>C (p.Ile779Thr) c.2212T>C c.2303T>C (p.Ile768Thr) c.2453T>C (p.Ile818Thr) c.250T>C (n.250T>C) c.904T>C n.2521T>C c.2282T>C (p.Ile761Thr) c.1517T>C (p.Ile506Thr) | COSMIC COSMIC |
| 3 | g.130997713T>G | CA354537213 | ATP2C1 | c.2351T>G (p.Ile784Arg) c.2336T>G (p.Ile779Arg) c.2212T>G c.2303T>G (p.Ile768Arg) c.2453T>G (p.Ile818Arg) c.250T>G (n.250T>G) c.904T>G n.2521T>G c.2282T>G (p.Ile761Arg) c.1517T>G (p.Ile506Arg) | |
| 3 | g.130997714A>C | CA435662410 | ATP2C1 | c.2352A>C (p.Ile784=) c.2337A>C (p.Ile779=) c.2213A>C c.2304A>C (p.Ile768=) c.2454A>C (p.Ile818=) c.251A>C (n.251A>C) c.905A>C n.2522A>C c.2283A>C (p.Ile761=) c.1518A>C (p.Ile506=) | |
| 3 | g.130997714A>G | CA354537214 | ATP2C1 | c.2352A>G (p.Ile784Met) c.2337A>G (p.Ile779Met) c.2213A>G c.2304A>G (p.Ile768Met) c.2454A>G (p.Ile818Met) c.251A>G (n.251A>G) c.905A>G n.2522A>G c.2283A>G (p.Ile761Met) c.1518A>G (p.Ile506Met) | |
| 3 | g.130997714A>T | CA435662411 | ATP2C1 | c.2352A>T (p.Ile784=) c.2337A>T (p.Ile779=) c.2213A>T c.2304A>T (p.Ile768=) c.2454A>T (p.Ile818=) c.251A>T (n.251A>T) c.905A>T n.2522A>T c.2283A>T (p.Ile761=) c.1518A>T (p.Ile506=) | gnomAD v4 |
| 3 | g.130997715A= | CA1401883677 | ATP2C1 | c.2353A= (p.Ile785=) c.2338A= (p.Ile780=) c.2214A= c.2305A= (p.Ile769=) c.2455A= (p.Ile819=) c.252A= (n.252A=) c.906A= n.2523A= c.2284A= (p.Ile762=) c.1519A= (p.Ile507=) | |
| 3 | g.130997715A>C | CA354537216 | ATP2C1 | c.2353A>C (p.Ile785Leu) c.2338A>C (p.Ile780Leu) c.2214A>C c.2305A>C (p.Ile769Leu) c.2455A>C (p.Ile819Leu) c.252A>C (n.252A>C) c.906A>C n.2523A>C c.2284A>C (p.Ile762Leu) c.1519A>C (p.Ile507Leu) | |
| 3 | g.130997715A>G | CA83504112 | ATP2C1 | c.2353A>G (p.Ile785Val) c.2338A>G (p.Ile780Val) c.2214A>G c.2305A>G (p.Ile769Val) c.2455A>G (p.Ile819Val) c.252A>G (n.252A>G) c.906A>G n.2523A>G c.2284A>G (p.Ile762Val) c.1519A>G (p.Ile507Val) | dbSNP gnomAD v4 |
| 3 | g.130997715A>T | CA354537215 | ATP2C1 | c.2353A>T (p.Ile785Phe) c.2338A>T (p.Ile780Phe) c.2214A>T c.2305A>T (p.Ile769Phe) c.2455A>T (p.Ile819Phe) c.252A>T (n.252A>T) c.906A>T n.2523A>T c.2284A>T (p.Ile762Phe) c.1519A>T (p.Ile507Phe) | |
| 3 | g.130997716T>A | CA2615367 | ATP2C1 | c.2354T>A (p.Ile785Asn) c.2339T>A (p.Ile780Asn) c.2215T>A c.2306T>A (p.Ile769Asn) c.2456T>A (p.Ile819Asn) c.253T>A (n.253T>A) c.907T>A n.2524T>A c.2285T>A (p.Ile762Asn) c.1520T>A (p.Ile507Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.130997716T>C | CA354537217 | ATP2C1 | c.2354T>C (p.Ile785Thr) c.2339T>C (p.Ile780Thr) c.2215T>C c.2306T>C (p.Ile769Thr) c.2456T>C (p.Ile819Thr) c.253T>C (n.253T>C) c.907T>C n.2524T>C c.2285T>C (p.Ile762Thr) c.1520T>C (p.Ile507Thr) | |
| 3 | g.130997716T>G | CA354537218 | ATP2C1 | c.2354T>G (p.Ile785Ser) c.2339T>G (p.Ile780Ser) c.2215T>G c.2306T>G (p.Ile769Ser) c.2456T>G (p.Ile819Ser) c.253T>G (n.253T>G) c.907T>G n.2524T>G c.2285T>G (p.Ile762Ser) c.1520T>G (p.Ile507Ser) | |
| 3 | g.130997716T= | CA1401883682 | ATP2C1 | c.2354T= (p.Ile785=) c.2339T= (p.Ile780=) c.2215T= c.2306T= (p.Ile769=) c.2456T= (p.Ile819=) c.253T= (n.253T=) c.907T= n.2524T= c.2285T= (p.Ile762=) c.1520T= (p.Ile507=) | |
| 3 | g.130997717C>A | CA435662412 | ATP2C1 | c.2355C>A (p.Ile785=) c.2340C>A (p.Ile780=) c.2216C>A c.2307C>A (p.Ile769=) c.2457C>A (p.Ile819=) c.254C>A (n.254C>A) c.908C>A n.2525C>A c.2286C>A (p.Ile762=) c.1521C>A (p.Ile507=) | |
| 3 | g.130997717C>G | CA354537219 | ATP2C1 | c.2355C>G (p.Ile785Met) c.2340C>G (p.Ile780Met) c.2216C>G c.2307C>G (p.Ile769Met) c.2457C>G (p.Ile819Met) c.254C>G (n.254C>G) c.908C>G n.2525C>G c.2286C>G (p.Ile762Met) c.1521C>G (p.Ile507Met) | gnomAD v4 |
| 3 | g.130997717C>T | CA435662413 | ATP2C1 | c.2355C>T (p.Ile785=) c.2340C>T (p.Ile780=) c.2216C>T c.2307C>T (p.Ile769=) c.2457C>T (p.Ile819=) c.254C>T (n.254C>T) c.908C>T n.2525C>T c.2286C>T (p.Ile762=) c.1521C>T (p.Ile507=) | |
| 3 | g.130997718A>C | CA354537220 | ATP2C1 | c.2356A>C (p.Ile786Leu) c.2341A>C (p.Ile781Leu) c.2217A>C c.2308A>C (p.Ile770Leu) c.2458A>C (p.Ile820Leu) c.255A>C (n.255A>C) c.909A>C n.2526A>C c.2287A>C (p.Ile763Leu) c.1522A>C (p.Ile508Leu) | gnomAD v4 |
| 3 | g.130997718A>G | CA354537221 | ATP2C1 | c.2356A>G (p.Ile786Val) c.2341A>G (p.Ile781Val) c.2217A>G c.2308A>G (p.Ile770Val) c.2458A>G (p.Ile820Val) c.255A>G (n.255A>G) c.909A>G n.2526A>G c.2287A>G (p.Ile763Val) c.1522A>G (p.Ile508Val) | gnomAD v4 |
| 3 | g.130997718A>T | CA354537222 | ATP2C1 | c.2356A>T (p.Ile786Phe) c.2341A>T (p.Ile781Phe) c.2217A>T c.2308A>T (p.Ile770Phe) c.2458A>T (p.Ile820Phe) c.255A>T (n.255A>T) c.909A>T n.2526A>T c.2287A>T (p.Ile763Phe) c.1522A>T (p.Ile508Phe) | gnomAD v4 |
| 3 | g.130997718_130997722delinsATTGT | CA1401883688 | ATP2C1 | c.2356_2360delinsATTGT (p.Ile786=) c.2341_2345delinsATTGT (p.Ile781=) c.2217_2221delinsATTGT c.2308_2312delinsATTGT (p.Ile770=) c.2458_2462delinsATTGT (p.Ile820=) c.255_259delinsATTGT (n.255_259delinsATTGT) c.909_913delinsATTGT n.2526_2530delinsATTGT c.2287_2291delinsATTGT (p.Ile763=) c.1522_1526delinsATTGT (p.Ile508=) | |
| 3 | g.130997719T>A | CA354537223 | ATP2C1 | c.2357T>A (p.Ile786Asn) c.2342T>A (p.Ile781Asn) c.2218T>A c.2309T>A (p.Ile770Asn) c.2459T>A (p.Ile820Asn) c.256T>A (n.256T>A) c.910T>A n.2527T>A c.2288T>A (p.Ile763Asn) c.1523T>A (p.Ile508Asn) | |
| 3 | g.130997719T>C | CA354537224 | ATP2C1 | c.2357T>C (p.Ile786Thr) c.2342T>C (p.Ile781Thr) c.2218T>C c.2309T>C (p.Ile770Thr) c.2459T>C (p.Ile820Thr) c.256T>C (n.256T>C) c.910T>C n.2527T>C c.2288T>C (p.Ile763Thr) c.1523T>C (p.Ile508Thr) | |
| 3 | g.130997719T>G | CA354537225 | ATP2C1 | c.2357T>G (p.Ile786Ser) c.2342T>G (p.Ile781Ser) c.2218T>G c.2309T>G (p.Ile770Ser) c.2459T>G (p.Ile820Ser) c.256T>G (n.256T>G) c.910T>G n.2527T>G c.2288T>G (p.Ile763Ser) c.1523T>G (p.Ile508Ser) | |
| 3 | g.130997719_130997720del | CA2586965909 | ATP2C1 | c.2357_2358del (p.Ile786SerfsTer11) c.2342_2343del (p.Ile781SerfsTer11) c.2218_2219del c.2309_2310del (p.Ile770SerfsTer11) c.2459_2460del (p.Ile820SerfsTer11) c.256_257del (n.256_257del) c.910_911del n.2527_2528del c.2288_2289del (p.Ile763SerfsTer11) c.1523_1524del (p.Ile508SerfsTer11) | gnomAD v4 |
| 3 | g.130997723_130997726del | CA546241049 | ATP2C1 | c.2361_2364del (p.Cys788GlyfsTer14) c.2346_2349del (p.Cys783GlyfsTer14) c.2222_2225del c.2313_2316del (p.Cys772GlyfsTer14) c.2463_2466del (p.Cys822GlyfsTer14) c.260_263del (n.260_263del) c.914_917del n.2531_2534del c.2292_2295del (p.Cys765GlyfsTer14) c.1527_1530del (p.Cys510GlyfsTer14) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.130997720T>A | CA435662414 | ATP2C1 | c.2358T>A (p.Ile786=) c.2343T>A (p.Ile781=) c.2219T>A c.2310T>A (p.Ile770=) c.2460T>A (p.Ile820=) c.257T>A (n.257T>A) c.911T>A n.2528T>A c.2289T>A (p.Ile763=) c.1524T>A (p.Ile508=) | |
| 3 | g.130997720T>C | CA435662415 | ATP2C1 | c.2358T>C (p.Ile786=) c.2343T>C (p.Ile781=) c.2219T>C c.2310T>C (p.Ile770=) c.2460T>C (p.Ile820=) c.257T>C (n.257T>C) c.911T>C n.2528T>C c.2289T>C (p.Ile763=) c.1524T>C (p.Ile508=) | |
| 3 | g.130997720T>G | CA354537226 | ATP2C1 | c.2358T>G (p.Ile786Met) c.2343T>G (p.Ile781Met) c.2219T>G c.2310T>G (p.Ile770Met) c.2460T>G (p.Ile820Met) c.257T>G (n.257T>G) c.911T>G n.2528T>G c.2289T>G (p.Ile763Met) c.1524T>G (p.Ile508Met) | |
| 3 | g.130997721G>A | CA354537227 | ATP2C1 | c.2359G>A (p.Val787Ile) c.2344G>A (p.Val782Ile) c.2220G>A c.2311G>A (p.Val771Ile) c.2461G>A (p.Val821Ile) c.258G>A (n.258G>A) c.912G>A n.2529G>A c.2290G>A (p.Val764Ile) c.1525G>A (p.Val509Ile) | gnomAD v4 |
| 3 | g.130997721G>C | CA354537228 | ATP2C1 | c.2359G>C (p.Val787Leu) c.2344G>C (p.Val782Leu) c.2220G>C c.2311G>C (p.Val771Leu) c.2461G>C (p.Val821Leu) c.258G>C (n.258G>C) c.912G>C n.2529G>C c.2290G>C (p.Val764Leu) c.1525G>C (p.Val509Leu) | |
| 3 | g.130997721G>T | CA354537229 | ATP2C1 | c.2359G>T (p.Val787Phe) c.2344G>T (p.Val782Phe) c.2220G>T c.2311G>T (p.Val771Phe) c.2461G>T (p.Val821Phe) c.258G>T (n.258G>T) c.912G>T n.2529G>T c.2290G>T (p.Val764Phe) c.1525G>T (p.Val509Phe) | |
| 3 | g.130997722T>A | CA354537231 | ATP2C1 | c.2360T>A (p.Val787Asp) c.2345T>A (p.Val782Asp) c.2221T>A c.2312T>A (p.Val771Asp) c.2462T>A (p.Val821Asp) c.259T>A (n.259T>A) c.913T>A n.2530T>A c.2291T>A (p.Val764Asp) c.1526T>A (p.Val509Asp) | |
| 3 | g.130997722T>C | CA354537232 | ATP2C1 | c.2360T>C (p.Val787Ala) c.2345T>C (p.Val782Ala) c.2221T>C c.2312T>C (p.Val771Ala) c.2462T>C (p.Val821Ala) c.259T>C (n.259T>C) c.913T>C n.2530T>C c.2291T>C (p.Val764Ala) c.1526T>C (p.Val509Ala) | |
| 3 | g.130997722T>G | CA354537230 | ATP2C1 | c.2360T>G (p.Val787Gly) c.2345T>G (p.Val782Gly) c.2221T>G c.2312T>G (p.Val771Gly) c.2462T>G (p.Val821Gly) c.259T>G (n.259T>G) c.913T>G n.2530T>G c.2291T>G (p.Val764Gly) c.1526T>G (p.Val509Gly) | |
| 3 | g.130997723T>A | CA435662416 | ATP2C1 | c.2361T>A (p.Val787=) c.2346T>A (p.Val782=) c.2222T>A c.2313T>A (p.Val771=) c.2463T>A (p.Val821=) c.260T>A (n.260T>A) c.914T>A n.2531T>A c.2292T>A (p.Val764=) c.1527T>A (p.Val509=) | |
| 3 | g.130997723T>C | CA435662417 | ATP2C1 | c.2361T>C (p.Val787=) c.2346T>C (p.Val782=) c.2222T>C c.2313T>C (p.Val771=) c.2463T>C (p.Val821=) c.260T>C (n.260T>C) c.914T>C n.2531T>C c.2292T>C (p.Val764=) c.1527T>C (p.Val509=) | |
| 3 | g.130997723T>G | CA435662418 | ATP2C1 | c.2361T>G (p.Val787=) c.2346T>G (p.Val782=) c.2222T>G c.2313T>G (p.Val771=) c.2463T>G (p.Val821=) c.260T>G (n.260T>G) c.914T>G n.2531T>G c.2292T>G (p.Val764=) c.1527T>G (p.Val509=) | |
| 3 | g.130997724T>A | CA83504127 | ATP2C1 | c.2362T>A (p.Cys788Ser) c.2347T>A (p.Cys783Ser) c.2223T>A c.2314T>A (p.Cys772Ser) c.2464T>A (p.Cys822Ser) c.261T>A (n.261T>A) c.915T>A n.2532T>A c.2293T>A (p.Cys765Ser) c.1528T>A (p.Cys510Ser) | dbSNP gnomAD v4 |