WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.130997611G>A | CA354536945 | ATP2C1 | c.2249G>A (p.Gly750Glu) c.2234G>A (p.Gly745Glu) c.2110G>A c.2201G>A (p.Gly734Glu) c.2351G>A (p.Gly784Glu) c.148G>A (p.Glu50Lys) c.802G>A n.2419G>A c.2180G>A (p.Gly727Glu) c.1415G>A (p.Gly472Glu) | |
| 3 | g.130997611G>C | CA354536947 | ATP2C1 | c.2249G>C (p.Gly750Ala) c.2234G>C (p.Gly745Ala) c.2110G>C c.2201G>C (p.Gly734Ala) c.2351G>C (p.Gly784Ala) c.148G>C (p.Glu50Gln) c.802G>C n.2419G>C c.2180G>C (p.Gly727Ala) c.1415G>C (p.Gly472Ala) | |
| 3 | g.130997611G>T | CA354536949 | ATP2C1 | c.2249G>T (p.Gly750Val) c.2234G>T (p.Gly745Val) c.2110G>T c.2201G>T (p.Gly734Val) c.2351G>T (p.Gly784Val) c.148G>T (p.Glu50Ter) c.802G>T n.2419G>T c.2180G>T (p.Gly727Val) c.1415G>T (p.Gly472Val) | |
| 3 | g.130997612A= | CA1401883559 | ATP2C1 | c.2250A= (p.Gly750=) c.2235A= (p.Gly745=) c.2111A= c.2202A= (p.Gly734=) c.2352A= (p.Gly784=) c.149A= (p.Glu50=) c.803A= n.2420A= c.2181A= (p.Gly727=) c.1416A= (p.Gly472=) | |
| 3 | g.130997612A>C | CA435662210 | ATP2C1 | c.2250A>C (p.Gly750=) c.2235A>C (p.Gly745=) c.2111A>C c.2202A>C (p.Gly734=) c.2352A>C (p.Gly784=) c.149A>C (p.Glu50Ala) c.803A>C n.2420A>C c.2181A>C (p.Gly727=) c.1416A>C (p.Gly472=) | dbSNP gnomAD v4 |
| 3 | g.130997612A>G | CA435662211 | ATP2C1 | c.2250A>G (p.Gly750=) c.2235A>G (p.Gly745=) c.2111A>G c.2202A>G (p.Gly734=) c.2352A>G (p.Gly784=) c.149A>G (p.Glu50Gly) c.803A>G n.2420A>G c.2181A>G (p.Gly727=) c.1416A>G (p.Gly472=) | |
| 3 | g.130997612A>T | CA435662214 | ATP2C1 | c.2250A>T (p.Gly750=) c.2235A>T (p.Gly745=) c.2111A>T c.2202A>T (p.Gly734=) c.2352A>T (p.Gly784=) c.149A>T (p.Glu50Val) c.803A>T n.2420A>T c.2181A>T (p.Gly727=) c.1416A>T (p.Gly472=) | |
| 3 | g.130997613G>A | CA354536953 | ATP2C1 | c.2251G>A (p.Val751Ile) c.2236G>A (p.Val746Ile) c.2112G>A c.2203G>A (p.Val735Ile) c.2353G>A (p.Val785Ile) c.150G>A (p.Glu50=) c.804G>A n.2421G>A c.2182G>A (p.Val728Ile) c.1417G>A (p.Val473Ile) | gnomAD v4 |
| 3 | g.130997613G>C | CA354536955 | ATP2C1 | c.2251G>C (p.Val751Leu) c.2236G>C (p.Val746Leu) c.2112G>C c.2203G>C (p.Val735Leu) c.2353G>C (p.Val785Leu) c.150G>C (p.Glu50Asp) c.804G>C n.2421G>C c.2182G>C (p.Val728Leu) c.1417G>C (p.Val473Leu) | |
| 3 | g.130997613G>T | CA354536957 | ATP2C1 | c.2251G>T (p.Val751Leu) c.2236G>T (p.Val746Leu) c.2112G>T c.2203G>T (p.Val735Leu) c.2353G>T (p.Val785Leu) c.150G>T (p.Glu50Asp) c.804G>T n.2421G>T c.2182G>T (p.Val728Leu) c.1417G>T (p.Val473Leu) | |
| 3 | g.130997613_130997614del | CA2586965906 | ATP2C1 | c.2251_2252del (p.Val751ArgfsTer5) c.2236_2237del (p.Val746ArgfsTer5) c.2112_2113del c.2203_2204del (p.Val735ArgfsTer5) c.2353_2354del (p.Val785ArgfsTer5) c.150_151del (p.Ter51GluextTer?) c.804_805del n.2421_2422del c.2182_2183del (p.Val728ArgfsTer5) c.1417_1418del (p.Val473ArgfsTer5) | |
| 3 | g.130997614T>A | CA354536960 | ATP2C1 | c.2252T>A (p.Val751Glu) c.2237T>A (p.Val746Glu) c.2113T>A c.2204T>A (p.Val735Glu) c.2354T>A (p.Val785Glu) c.151T>A (p.Ter51Lys) c.805T>A n.2422T>A c.2183T>A (p.Val728Glu) c.1418T>A (p.Val473Glu) | |
| 3 | g.130997614T>C | CA354536962 | ATP2C1 | c.2252T>C (p.Val751Ala) c.2237T>C (p.Val746Ala) c.2113T>C c.2204T>C (p.Val735Ala) c.2354T>C (p.Val785Ala) c.151T>C (p.Ter51Gln) c.805T>C n.2422T>C c.2183T>C (p.Val728Ala) c.1418T>C (p.Val473Ala) | gnomAD v4 |
| 3 | g.130997614T>G | CA354536964 | ATP2C1 | c.2252T>G (p.Val751Gly) c.2237T>G (p.Val746Gly) c.2113T>G c.2204T>G (p.Val735Gly) c.2354T>G (p.Val785Gly) c.151T>G (p.Ter51Glu) c.805T>G n.2422T>G c.2183T>G (p.Val728Gly) c.1418T>G (p.Val473Gly) | |
| 3 | g.130997615A= | CA1401883562 | ATP2C1 | c.2253A= (p.Val751=) c.2238A= (p.Val746=) c.2114A= c.2205A= (p.Val735=) c.2355A= (p.Val785=) c.152A= (p.Ter51=) c.806A= n.2423A= c.2184A= (p.Val728=) c.1419A= (p.Val473=) | |
| 3 | g.130997615A>C | CA435662217 | ATP2C1 | c.2253A>C (p.Val751=) c.2238A>C (p.Val746=) c.2114A>C c.2205A>C (p.Val735=) c.2355A>C (p.Val785=) c.152A>C (p.Ter51Ser) c.806A>C n.2423A>C c.2184A>C (p.Val728=) c.1419A>C (p.Val473=) | |
| 3 | g.130997615A>G | CA83503984 | ATP2C1 | c.2253A>G (p.Val751=) c.2238A>G (p.Val746=) c.2114A>G c.2205A>G (p.Val735=) c.2355A>G (p.Val785=) c.152A>G (p.Ter51Trp) c.806A>G n.2423A>G c.2184A>G (p.Val728=) c.1419A>G (p.Val473=) | dbSNP |
| 3 | g.130997615A>T | CA435662220 | ATP2C1 | c.2253A>T (p.Val751=) c.2238A>T (p.Val746=) c.2114A>T c.2205A>T (p.Val735=) c.2355A>T (p.Val785=) c.152A>T (p.Ter51Leu) c.806A>T n.2423A>T c.2184A>T (p.Val728=) c.1419A>T (p.Val473=) | |
| 3 | g.130997616G>A | CA354536968 | ATP2C1 | c.2254G>A (p.Glu752Lys) c.2239G>A (p.Glu747Lys) c.2115G>A c.2206G>A (p.Glu736Lys) c.2356G>A (p.Glu786Lys) c.153G>A (p.Ter51=) c.807G>A n.2424G>A c.2185G>A (p.Glu729Lys) c.1420G>A (p.Glu474Lys) | |
| 3 | g.130997616G>C | CA354536970 | ATP2C1 | c.2254G>C (p.Glu752Gln) c.2239G>C (p.Glu747Gln) c.2115G>C c.2206G>C (p.Glu736Gln) c.2356G>C (p.Glu786Gln) c.153G>C (p.Ter51Tyr) c.807G>C n.2424G>C c.2185G>C (p.Glu729Gln) c.1420G>C (p.Glu474Gln) | |
| 3 | g.130997616G>T | CA354536972 | ATP2C1 | c.2254G>T (p.Glu752Ter) c.2239G>T (p.Glu747Ter) c.2115G>T c.2206G>T (p.Glu736Ter) c.2356G>T (p.Glu786Ter) c.153G>T (p.Ter51Tyr) c.807G>T n.2424G>T c.2185G>T (p.Glu729Ter) c.1420G>T (p.Glu474Ter) | |
| 3 | g.130997617A>C | CA354536977 | ATP2C1 | c.2255A>C (p.Glu752Ala) c.2240A>C (p.Glu747Ala) c.2116A>C c.2207A>C (p.Glu736Ala) c.2357A>C (p.Glu786Ala) c.154A>C (n.154A>C) c.808A>C n.2425A>C c.2186A>C (p.Glu729Ala) c.1421A>C (p.Glu474Ala) | |
| 3 | g.130997617A>G | CA354536980 | ATP2C1 | c.2255A>G (p.Glu752Gly) c.2240A>G (p.Glu747Gly) c.2116A>G c.2207A>G (p.Glu736Gly) c.2357A>G (p.Glu786Gly) c.154A>G (n.154A>G) c.808A>G n.2425A>G c.2186A>G (p.Glu729Gly) c.1421A>G (p.Glu474Gly) | |
| 3 | g.130997617A>T | CA354536976 | ATP2C1 | c.2255A>T (p.Glu752Val) c.2240A>T (p.Glu747Val) c.2116A>T c.2207A>T (p.Glu736Val) c.2357A>T (p.Glu786Val) c.154A>T (n.154A>T) c.808A>T n.2425A>T c.2186A>T (p.Glu729Val) c.1421A>T (p.Glu474Val) | |
| 3 | g.130997618_130997621del | CA2580068759 | ATP2C1 | c.2256_2259del (p.Pro753TrpfsTer18) c.2241_2244del (p.Pro748TrpfsTer18) c.2117_2120del c.2208_2211del (p.Pro737TrpfsTer18) c.2358_2361del (p.Pro787TrpfsTer18) c.155_158del (n.155_158del) c.809_812del n.2426_2429del c.2187_2190del (p.Pro730TrpfsTer18) c.1422_1425del (p.Pro475TrpfsTer18) | ClinVar |
| 3 | g.130997618A= | CA1401883564 | ATP2C1 | c.2256A= (p.Glu752=) c.2241A= (p.Glu747=) c.2117A= c.2208A= (p.Glu736=) c.2358A= (p.Glu786=) c.155A= (n.155A=) c.809A= n.2426A= c.2187A= (p.Glu729=) c.1422A= (p.Glu474=) | |
| 3 | g.130997618A>C | CA354536983 | ATP2C1 | c.2256A>C (p.Glu752Asp) c.2241A>C (p.Glu747Asp) c.2117A>C c.2208A>C (p.Glu736Asp) c.2358A>C (p.Glu786Asp) c.155A>C (n.155A>C) c.809A>C n.2426A>C c.2187A>C (p.Glu729Asp) c.1422A>C (p.Glu474Asp) | |
| 3 | g.130997618A>G | CA435662222 | ATP2C1 | c.2256A>G (p.Glu752=) c.2241A>G (p.Glu747=) c.2117A>G c.2208A>G (p.Glu736=) c.2358A>G (p.Glu786=) c.155A>G (n.155A>G) c.809A>G n.2426A>G c.2187A>G (p.Glu729=) c.1422A>G (p.Glu474=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.130997618A>T | CA354536985 | ATP2C1 | c.2256A>T (p.Glu752Asp) c.2241A>T (p.Glu747Asp) c.2117A>T c.2208A>T (p.Glu736Asp) c.2358A>T (p.Glu786Asp) c.155A>T (n.155A>T) c.809A>T n.2426A>T c.2187A>T (p.Glu729Asp) c.1422A>T (p.Glu474Asp) | |
| 3 | g.130997619C>A | CA354536987 | ATP2C1 | c.2257C>A (p.Pro753Thr) c.2242C>A (p.Pro748Thr) c.2118C>A c.2209C>A (p.Pro737Thr) c.2359C>A (p.Pro787Thr) c.156C>A (n.156C>A) c.810C>A n.2427C>A c.2188C>A (p.Pro730Thr) c.1423C>A (p.Pro475Thr) | |
| 3 | g.130997619C= | CA1401883567 | ATP2C1 | c.2257C= (p.Pro753=) c.2242C= (p.Pro748=) c.2118C= c.2209C= (p.Pro737=) c.2359C= (p.Pro787=) c.156C= (n.156C=) c.810C= n.2427C= c.2188C= (p.Pro730=) c.1423C= (p.Pro475=) | |
| 3 | g.130997619C>G | CA354536990 | ATP2C1 | c.2257C>G (p.Pro753Ala) c.2242C>G (p.Pro748Ala) c.2118C>G c.2209C>G (p.Pro737Ala) c.2359C>G (p.Pro787Ala) c.156C>G (n.156C>G) c.810C>G n.2427C>G c.2188C>G (p.Pro730Ala) c.1423C>G (p.Pro475Ala) | |
| 3 | g.130997619C>T | CA354536992 | ATP2C1 | c.2257C>T (p.Pro753Ser) c.2242C>T (p.Pro748Ser) c.2118C>T c.2209C>T (p.Pro737Ser) c.2359C>T (p.Pro787Ser) c.156C>T (n.156C>T) c.810C>T n.2427C>T c.2188C>T (p.Pro730Ser) c.1423C>T (p.Pro475Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.130997620C>A | CA354537000 | ATP2C1 | c.2258C>A (p.Pro753Gln) c.2243C>A (p.Pro748Gln) c.2119C>A c.2210C>A (p.Pro737Gln) c.2360C>A (p.Pro787Gln) c.157C>A (n.157C>A) c.811C>A n.2428C>A c.2189C>A (p.Pro730Gln) c.1424C>A (p.Pro475Gln) | |
| 3 | g.130997620C= | CA1401883571 | ATP2C1 | c.2258C= (p.Pro753=) c.2243C= (p.Pro748=) c.2119C= c.2210C= (p.Pro737=) c.2360C= (p.Pro787=) c.157C= (n.157C=) c.811C= n.2428C= c.2189C= (p.Pro730=) c.1424C= (p.Pro475=) | |
| 3 | g.130997620C>G | CA354536996 | ATP2C1 | c.2258C>G (p.Pro753Arg) c.2243C>G (p.Pro748Arg) c.2119C>G c.2210C>G (p.Pro737Arg) c.2360C>G (p.Pro787Arg) c.157C>G (n.157C>G) c.811C>G n.2428C>G c.2189C>G (p.Pro730Arg) c.1424C>G (p.Pro475Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.130997620C>T | CA354536998 | ATP2C1 | c.2258C>T (p.Pro753Leu) c.2243C>T (p.Pro748Leu) c.2119C>T c.2210C>T (p.Pro737Leu) c.2360C>T (p.Pro787Leu) c.157C>T (n.157C>T) c.811C>T n.2428C>T c.2189C>T (p.Pro730Leu) c.1424C>T (p.Pro475Leu) | |
| 3 | g.130997621A= | CA1401883574 | ATP2C1 | c.2259A= (p.Pro753=) c.2244A= (p.Pro748=) c.2120A= c.2211A= (p.Pro737=) c.2361A= (p.Pro787=) c.158A= (n.158A=) c.812A= n.2429A= c.2190A= (p.Pro730=) c.1425A= (p.Pro475=) | |
| 3 | g.130997621A>C | CA435662224 | ATP2C1 | c.2259A>C (p.Pro753=) c.2244A>C (p.Pro748=) c.2120A>C c.2211A>C (p.Pro737=) c.2361A>C (p.Pro787=) c.158A>C (n.158A>C) c.812A>C n.2429A>C c.2190A>C (p.Pro730=) c.1425A>C (p.Pro475=) | |
| 3 | g.130997621A>G | CA435662225 | ATP2C1 | c.2259A>G (p.Pro753=) c.2244A>G (p.Pro748=) c.2120A>G c.2211A>G (p.Pro737=) c.2361A>G (p.Pro787=) c.158A>G (n.158A>G) c.812A>G n.2429A>G c.2190A>G (p.Pro730=) c.1425A>G (p.Pro475=) | dbSNP |
| 3 | g.130997621A>T | CA435662227 | ATP2C1 | c.2259A>T (p.Pro753=) c.2244A>T (p.Pro748=) c.2120A>T c.2211A>T (p.Pro737=) c.2361A>T (p.Pro787=) c.158A>T (n.158A>T) c.812A>T n.2429A>T c.2190A>T (p.Pro730=) c.1425A>T (p.Pro475=) | COSMIC COSMIC |
| 3 | g.130997622G>A | CA354537003 | ATP2C1 | c.2260G>A (p.Val754Met) c.2245G>A (p.Val749Met) c.2121G>A c.2212G>A (p.Val738Met) c.2362G>A (p.Val788Met) c.159G>A (n.159G>A) c.813G>A n.2430G>A c.2191G>A (p.Val731Met) c.1426G>A (p.Val476Met) | |
| 3 | g.130997622G>C | CA354537005 | ATP2C1 | c.2260G>C (p.Val754Leu) c.2245G>C (p.Val749Leu) c.2121G>C c.2212G>C (p.Val738Leu) c.2362G>C (p.Val788Leu) c.159G>C (n.159G>C) c.813G>C n.2430G>C c.2191G>C (p.Val731Leu) c.1426G>C (p.Val476Leu) | |
| 3 | g.130997622G>T | CA354537008 | ATP2C1 | c.2260G>T (p.Val754Leu) c.2245G>T (p.Val749Leu) c.2121G>T c.2212G>T (p.Val738Leu) c.2362G>T (p.Val788Leu) c.159G>T (n.159G>T) c.813G>T n.2430G>T c.2191G>T (p.Val731Leu) c.1426G>T (p.Val476Leu) | gnomAD v4 |
| 3 | g.130997623T>A | CA354537011 | ATP2C1 | c.2261T>A (p.Val754Glu) c.2246T>A (p.Val749Glu) c.2122T>A c.2213T>A (p.Val738Glu) c.2363T>A (p.Val788Glu) c.160T>A (n.160T>A) c.814T>A n.2431T>A c.2192T>A (p.Val731Glu) c.1427T>A (p.Val476Glu) | gnomAD v4 |
| 3 | g.130997623T>C | CA354537013 | ATP2C1 | c.2261T>C (p.Val754Ala) c.2246T>C (p.Val749Ala) c.2122T>C c.2213T>C (p.Val738Ala) c.2363T>C (p.Val788Ala) c.160T>C (n.160T>C) c.814T>C n.2431T>C c.2192T>C (p.Val731Ala) c.1427T>C (p.Val476Ala) | |
| 3 | g.130997623T>G | CA354537014 | ATP2C1 | c.2261T>G (p.Val754Gly) c.2246T>G (p.Val749Gly) c.2122T>G c.2213T>G (p.Val738Gly) c.2363T>G (p.Val788Gly) c.160T>G (n.160T>G) c.814T>G n.2431T>G c.2192T>G (p.Val731Gly) c.1427T>G (p.Val476Gly) | |
| 3 | g.130997624G>A | CA435662228 | ATP2C1 | c.2262G>A (p.Val754=) c.2247G>A (p.Val749=) c.2123G>A c.2214G>A (p.Val738=) c.2364G>A (p.Val788=) c.161G>A (n.161G>A) c.815G>A n.2432G>A c.2193G>A (p.Val731=) c.1428G>A (p.Val476=) | |
| 3 | g.130997624G>C | CA435662230 | ATP2C1 | c.2262G>C (p.Val754=) c.2247G>C (p.Val749=) c.2123G>C c.2214G>C (p.Val738=) c.2364G>C (p.Val788=) c.161G>C (n.161G>C) c.815G>C n.2432G>C c.2193G>C (p.Val731=) c.1428G>C (p.Val476=) | gnomAD v4 |
| 3 | g.130997624G>T | CA435662233 | ATP2C1 | c.2262G>T (p.Val754=) c.2247G>T (p.Val749=) c.2123G>T c.2214G>T (p.Val738=) c.2364G>T (p.Val788=) c.161G>T (n.161G>T) c.815G>T n.2432G>T c.2193G>T (p.Val731=) c.1428G>T (p.Val476=) |