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 |
|---|---|---|---|---|---|
| 15 | g.42730632G>A | CA342448 | CDAN1 | c.2140C>T (p.Arg714Trp) c.*1318C>T (n.*1318C>T) c.133C>T (p.Arg45Trp) c.2143C>T (p.Arg715Trp) c.2167C>T (p.Arg723Trp) c.2164C>T (p.Arg722Trp) c.1132C>T (p.Arg378Trp) c.1384C>T (p.Arg462Trp) n.2140C>T n.2197C>T n.2160C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.42730632G>C | CA392042157 | CDAN1 | c.2140C>G (p.Arg714Gly) c.*1318C>G (n.*1318C>G) c.133C>G (p.Arg45Gly) c.2143C>G (p.Arg715Gly) c.2167C>G (p.Arg723Gly) c.2164C>G (p.Arg722Gly) c.1132C>G (p.Arg378Gly) c.1384C>G (p.Arg462Gly) n.2140C>G n.2197C>G n.2160C>G | |
| 15 | g.42730632G= | CA2172870094 | CDAN1 | c.2140C= (p.Arg714=) c.*1318C= (n.*1318C=) c.133C= (p.Arg45=) c.2143C= (p.Arg715=) c.2167C= (p.Arg723=) c.2164C= (p.Arg722=) c.1132C= (p.Arg378=) c.1384C= (p.Arg462=) n.2140C= n.2197C= n.2160C= | |
| 15 | g.42730632G>T | CA489895197 | CDAN1 | c.2140C>A (p.Arg714=) c.*1318C>A (n.*1318C>A) c.133C>A (p.Arg45=) c.2143C>A (p.Arg715=) c.2167C>A (p.Arg723=) c.2164C>A (p.Arg722=) c.1132C>A (p.Arg378=) c.1384C>A (p.Arg462=) n.2140C>A n.2197C>A n.2160C>A | |
| 15 | g.42730633G>A | CA269904721 | CDAN1 | c.2139C>T (p.Tyr713=) c.*1317C>T (n.*1317C>T) c.132C>T (p.Tyr44=) c.2142C>T (p.Tyr714=) c.2166C>T (p.Tyr722=) c.2163C>T (p.Tyr721=) c.1131C>T (p.Tyr377=) c.1383C>T (p.Tyr461=) n.2139C>T n.2196C>T n.2159C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42730633G>C | CA392042159 | CDAN1 | c.2139C>G (p.Tyr713Ter) c.*1317C>G (n.*1317C>G) c.132C>G (p.Tyr44Ter) c.2142C>G (p.Tyr714Ter) c.2166C>G (p.Tyr722Ter) c.2163C>G (p.Tyr721Ter) c.1131C>G (p.Tyr377Ter) c.1383C>G (p.Tyr461Ter) n.2139C>G n.2196C>G n.2159C>G | gnomAD v4 |
| 15 | g.42730633G= | CA2172870095 | CDAN1 | c.2139C= (p.Tyr713=) c.*1317C= (n.*1317C=) c.132C= (p.Tyr44=) c.2142C= (p.Tyr714=) c.2166C= (p.Tyr722=) c.2163C= (p.Tyr721=) c.1131C= (p.Tyr377=) c.1383C= (p.Tyr461=) n.2139C= n.2196C= n.2159C= | |
| 15 | g.42730633G>T | CA392042163 | CDAN1 | c.2139C>A (p.Tyr713Ter) c.*1317C>A (n.*1317C>A) c.132C>A (p.Tyr44Ter) c.2142C>A (p.Tyr714Ter) c.2166C>A (p.Tyr722Ter) c.2163C>A (p.Tyr721Ter) c.1131C>A (p.Tyr377Ter) c.1383C>A (p.Tyr461Ter) n.2139C>A n.2196C>A n.2159C>A | |
| 15 | g.42730634T>A | CA392042165 | CDAN1 | c.2138A>T (p.Tyr713Phe) c.*1316A>T (n.*1316A>T) c.131A>T (p.Tyr44Phe) c.2141A>T (p.Tyr714Phe) c.2165A>T (p.Tyr722Phe) c.2162A>T (p.Tyr721Phe) c.1130A>T (p.Tyr377Phe) c.1382A>T (p.Tyr461Phe) n.2138A>T n.2195A>T n.2158A>T | |
| 15 | g.42730634T>C | CA392042166 | CDAN1 | c.2138A>G (p.Tyr713Cys) c.*1316A>G (n.*1316A>G) c.131A>G (p.Tyr44Cys) c.2141A>G (p.Tyr714Cys) c.2165A>G (p.Tyr722Cys) c.2162A>G (p.Tyr721Cys) c.1130A>G (p.Tyr377Cys) c.1382A>G (p.Tyr461Cys) n.2138A>G n.2195A>G n.2158A>G | |
| 15 | g.42730634T>G | CA392042167 | CDAN1 | c.2138A>C (p.Tyr713Ser) c.*1316A>C (n.*1316A>C) c.131A>C (p.Tyr44Ser) c.2141A>C (p.Tyr714Ser) c.2165A>C (p.Tyr722Ser) c.2162A>C (p.Tyr721Ser) c.1130A>C (p.Tyr377Ser) c.1382A>C (p.Tyr461Ser) n.2138A>C n.2195A>C n.2158A>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42730634T= | CA2172870096 | CDAN1 | c.2138A= (p.Tyr713=) c.*1316A= (n.*1316A=) c.131A= (p.Tyr44=) c.2141A= (p.Tyr714=) c.2165A= (p.Tyr722=) c.2162A= (p.Tyr721=) c.1130A= (p.Tyr377=) c.1382A= (p.Tyr461=) n.2138A= n.2195A= n.2158A= | |
| 15 | g.42730635A>C | CA392042174 | CDAN1 | c.2137T>G (p.Tyr713Asp) c.*1315T>G (n.*1315T>G) c.130T>G (p.Tyr44Asp) c.2140T>G (p.Tyr714Asp) c.2164T>G (p.Tyr722Asp) c.2161T>G (p.Tyr721Asp) c.1129T>G (p.Tyr377Asp) c.1381T>G (p.Tyr461Asp) n.2137T>G n.2194T>G n.2157T>G | |
| 15 | g.42730635A>G | CA392042176 | CDAN1 | c.2137T>C (p.Tyr713His) c.*1315T>C (n.*1315T>C) c.130T>C (p.Tyr44His) c.2140T>C (p.Tyr714His) c.2164T>C (p.Tyr722His) c.2161T>C (p.Tyr721His) c.1129T>C (p.Tyr377His) c.1381T>C (p.Tyr461His) n.2137T>C n.2194T>C n.2157T>C | |
| 15 | g.42730635A>T | CA392042173 | CDAN1 | c.2137T>A (p.Tyr713Asn) c.*1315T>A (n.*1315T>A) c.130T>A (p.Tyr44Asn) c.2140T>A (p.Tyr714Asn) c.2164T>A (p.Tyr722Asn) c.2161T>A (p.Tyr721Asn) c.1129T>A (p.Tyr377Asn) c.1381T>A (p.Tyr461Asn) n.2137T>A n.2194T>A n.2157T>A | |
| 15 | g.42730636A= | CA2172870097 | CDAN1 | c.2136T= (p.Tyr712=) c.*1314T= (n.*1314T=) c.129T= (p.Tyr43=) c.2139T= (p.Tyr713=) c.2163T= (p.Tyr721=) c.2160T= (p.Tyr720=) c.1128T= (p.Tyr376=) c.1380T= (p.Tyr460=) n.2136T= n.2193T= n.2156T= | |
| 15 | g.42730636A>C | CA392042178 | CDAN1 | c.2136T>G (p.Tyr712Ter) c.*1314T>G (n.*1314T>G) c.129T>G (p.Tyr43Ter) c.2139T>G (p.Tyr713Ter) c.2163T>G (p.Tyr721Ter) c.2160T>G (p.Tyr720Ter) c.1128T>G (p.Tyr376Ter) c.1380T>G (p.Tyr460Ter) n.2136T>G n.2193T>G n.2156T>G | |
| 15 | g.42730636A>G | CA489895198 | CDAN1 | c.2136T>C (p.Tyr712=) c.*1314T>C (n.*1314T>C) c.129T>C (p.Tyr43=) c.2139T>C (p.Tyr713=) c.2163T>C (p.Tyr721=) c.2160T>C (p.Tyr720=) c.1128T>C (p.Tyr376=) c.1380T>C (p.Tyr460=) n.2136T>C n.2193T>C n.2156T>C | ClinVar dbSNP gnomAD v4 |
| 15 | g.42730636A>T | CA392042179 | CDAN1 | c.2136T>A (p.Tyr712Ter) c.*1314T>A (n.*1314T>A) c.129T>A (p.Tyr43Ter) c.2139T>A (p.Tyr713Ter) c.2163T>A (p.Tyr721Ter) c.2160T>A (p.Tyr720Ter) c.1128T>A (p.Tyr376Ter) c.1380T>A (p.Tyr460Ter) n.2136T>A n.2193T>A n.2156T>A | |
| 15 | g.42730637T>A | CA392042180 | CDAN1 | c.2135A>T (p.Tyr712Phe) c.*1313A>T (n.*1313A>T) c.128A>T (p.Tyr43Phe) c.2138A>T (p.Tyr713Phe) c.2162A>T (p.Tyr721Phe) c.2159A>T (p.Tyr720Phe) c.1127A>T (p.Tyr376Phe) c.1379A>T (p.Tyr460Phe) n.2135A>T n.2192A>T n.2155A>T | |
| 15 | g.42730637T>C | CA392042181 | CDAN1 | c.2135A>G (p.Tyr712Cys) c.*1313A>G (n.*1313A>G) c.128A>G (p.Tyr43Cys) c.2138A>G (p.Tyr713Cys) c.2162A>G (p.Tyr721Cys) c.2159A>G (p.Tyr720Cys) c.1127A>G (p.Tyr376Cys) c.1379A>G (p.Tyr460Cys) n.2135A>G n.2192A>G n.2155A>G | |
| 15 | g.42730637T>G | CA392042182 | CDAN1 | c.2135A>C (p.Tyr712Ser) c.*1313A>C (n.*1313A>C) c.128A>C (p.Tyr43Ser) c.2138A>C (p.Tyr713Ser) c.2162A>C (p.Tyr721Ser) c.2159A>C (p.Tyr720Ser) c.1127A>C (p.Tyr376Ser) c.1379A>C (p.Tyr460Ser) n.2135A>C n.2192A>C n.2155A>C | |
| 15 | g.42730638_42730640del | CA2628073556 | CDAN1 | c.2133_2135del (p.Glu711_Tyr712delinsAsp) c.*1311_*1313del (n.*1311_*1313del) c.126_128del (p.Glu42_Tyr43delinsAsp) c.2136_2138del (p.Glu712_Tyr713delinsAsp) c.2160_2162del (p.Glu720_Tyr721delinsAsp) c.2157_2159del (p.Glu719_Tyr720delinsAsp) c.1125_1127del (p.Glu375_Tyr376delinsAsp) c.1377_1379del (p.Glu459_Tyr460delinsAsp) n.2133_2135del n.2190_2192del n.2153_2155del | gnomAD v4 |
| 15 | g.42730638A>C | CA392042190 | CDAN1 | c.2134T>G (p.Tyr712Asp) c.*1312T>G (n.*1312T>G) c.127T>G (p.Tyr43Asp) c.2137T>G (p.Tyr713Asp) c.2161T>G (p.Tyr721Asp) c.2158T>G (p.Tyr720Asp) c.1126T>G (p.Tyr376Asp) c.1378T>G (p.Tyr460Asp) n.2134T>G n.2191T>G n.2154T>G | |
| 15 | g.42730638A>G | CA392042185 | CDAN1 | c.2134T>C (p.Tyr712His) c.*1312T>C (n.*1312T>C) c.127T>C (p.Tyr43His) c.2137T>C (p.Tyr713His) c.2161T>C (p.Tyr721His) c.2158T>C (p.Tyr720His) c.1126T>C (p.Tyr376His) c.1378T>C (p.Tyr460His) n.2134T>C n.2191T>C n.2154T>C | |
| 15 | g.42730638A>T | CA392042188 | CDAN1 | c.2134T>A (p.Tyr712Asn) c.*1312T>A (n.*1312T>A) c.127T>A (p.Tyr43Asn) c.2137T>A (p.Tyr713Asn) c.2161T>A (p.Tyr721Asn) c.2158T>A (p.Tyr720Asn) c.1126T>A (p.Tyr376Asn) c.1378T>A (p.Tyr460Asn) n.2134T>A n.2191T>A n.2154T>A | |
| 15 | g.42730638_42730639delinsAT | CA2172870098 | CDAN1 | c.2133_2134delinsAT (p.Glu711=) c.*1311_*1312delinsAT (n.*1311_*1312delinsAT) c.126_127delinsAT (p.Glu42=) c.2136_2137delinsAT (p.Glu712=) c.2160_2161delinsAT (p.Glu720=) c.2157_2158delinsAT (p.Glu719=) c.1125_1126delinsAT (p.Glu375=) c.1377_1378delinsAT (p.Glu459=) n.2133_2134delinsAT n.2190_2191delinsAT n.2153_2154delinsAT | |
| 15 | g.42730639T>A | CA392042193 | CDAN1 | c.2133A>T (p.Glu711Asp) c.*1311A>T (n.*1311A>T) c.126A>T (p.Glu42Asp) c.2136A>T (p.Glu712Asp) c.2160A>T (p.Glu720Asp) c.2157A>T (p.Glu719Asp) c.1125A>T (p.Glu375Asp) c.1377A>T (p.Glu459Asp) n.2133A>T n.2190A>T n.2153A>T | |
| 15 | g.42730639T>C | CA489895199 | CDAN1 | c.2133A>G (p.Glu711=) c.*1311A>G (n.*1311A>G) c.126A>G (p.Glu42=) c.2136A>G (p.Glu712=) c.2160A>G (p.Glu720=) c.2157A>G (p.Glu719=) c.1125A>G (p.Glu375=) c.1377A>G (p.Glu459=) n.2133A>G n.2190A>G n.2153A>G | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.42730639T>G | CA392042194 | CDAN1 | c.2133A>C (p.Glu711Asp) c.*1311A>C (n.*1311A>C) c.126A>C (p.Glu42Asp) c.2136A>C (p.Glu712Asp) c.2160A>C (p.Glu720Asp) c.2157A>C (p.Glu719Asp) c.1125A>C (p.Glu375Asp) c.1377A>C (p.Glu459Asp) n.2133A>C n.2190A>C n.2153A>C | |
| 15 | g.42730639T= | CA2172870099 | CDAN1 | c.2133A= (p.Glu711=) c.*1311A= (n.*1311A=) c.126A= (p.Glu42=) c.2136A= (p.Glu712=) c.2160A= (p.Glu720=) c.2157A= (p.Glu719=) c.1125A= (p.Glu375=) c.1377A= (p.Glu459=) n.2133A= n.2190A= n.2153A= | |
| 15 | g.42730640del | CA7515815 | CDAN1 | c.2133del (p.Glu711AspfsTer30) c.*1311del (n.*1311del) c.126del (p.Glu42AspfsTer30) c.2136del (p.Glu712AspfsTer30) c.2160del (p.Glu720AspfsTer30) c.2157del (p.Glu719AspfsTer30) c.1125del (p.Glu375AspfsTer30) c.1377del (p.Glu459AspfsTer30) n.2133del n.2190del n.2153del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42730640T>A | CA392042195 | CDAN1 | c.2132A>T (p.Glu711Val) c.*1310A>T (n.*1310A>T) c.125A>T (p.Glu42Val) c.2135A>T (p.Glu712Val) c.2159A>T (p.Glu720Val) c.2156A>T (p.Glu719Val) c.1124A>T (p.Glu375Val) c.1376A>T (p.Glu459Val) n.2132A>T n.2189A>T n.2152A>T | |
| 15 | g.42730640T>C | CA392042200 | CDAN1 | c.2132A>G (p.Glu711Gly) c.*1310A>G (n.*1310A>G) c.125A>G (p.Glu42Gly) c.2135A>G (p.Glu712Gly) c.2159A>G (p.Glu720Gly) c.2156A>G (p.Glu719Gly) c.1124A>G (p.Glu375Gly) c.1376A>G (p.Glu459Gly) n.2132A>G n.2189A>G n.2152A>G | dbSNP |
| 15 | g.42730640T>G | CA392042201 | CDAN1 | c.2132A>C (p.Glu711Ala) c.*1310A>C (n.*1310A>C) c.125A>C (p.Glu42Ala) c.2135A>C (p.Glu712Ala) c.2159A>C (p.Glu720Ala) c.2156A>C (p.Glu719Ala) c.1124A>C (p.Glu375Ala) c.1376A>C (p.Glu459Ala) n.2132A>C n.2189A>C n.2152A>C | |
| 15 | g.42730640T= | CA2172870100 | CDAN1 | c.2132A= (p.Glu711=) c.*1310A= (n.*1310A=) c.125A= (p.Glu42=) c.2135A= (p.Glu712=) c.2159A= (p.Glu720=) c.2156A= (p.Glu719=) c.1124A= (p.Glu375=) c.1376A= (p.Glu459=) n.2132A= n.2189A= n.2152A= | |
| 15 | g.42730641C>A | CA392042205 | CDAN1 | c.2131G>T (p.Glu711Ter) c.*1309G>T (n.*1309G>T) c.124G>T (p.Glu42Ter) c.2134G>T (p.Glu712Ter) c.2158G>T (p.Glu720Ter) c.2155G>T (p.Glu719Ter) c.1123G>T (p.Glu375Ter) c.1375G>T (p.Glu459Ter) n.2131G>T n.2188G>T n.2151G>T | |
| 15 | g.42730641C>G | CA392042208 | CDAN1 | c.2131G>C (p.Glu711Gln) c.*1309G>C (n.*1309G>C) c.124G>C (p.Glu42Gln) c.2134G>C (p.Glu712Gln) c.2158G>C (p.Glu720Gln) c.2155G>C (p.Glu719Gln) c.1123G>C (p.Glu375Gln) c.1375G>C (p.Glu459Gln) n.2131G>C n.2188G>C n.2151G>C | |
| 15 | g.42730641C>T | CA392042203 | CDAN1 | c.2131G>A (p.Glu711Lys) c.*1309G>A (n.*1309G>A) c.124G>A (p.Glu42Lys) c.2134G>A (p.Glu712Lys) c.2158G>A (p.Glu720Lys) c.2155G>A (p.Glu719Lys) c.1123G>A (p.Glu375Lys) c.1375G>A (p.Glu459Lys) n.2131G>A n.2188G>A n.2151G>A | |
| 15 | g.42730642C>A | CA489895200 | CDAN1 | c.2130G>T (p.Leu710=) c.*1308G>T (n.*1308G>T) c.123G>T (p.Leu41=) c.2133G>T (p.Leu711=) c.2157G>T (p.Leu719=) c.2154G>T (p.Leu718=) c.1122G>T (p.Leu374=) c.1374G>T (p.Leu458=) n.2130G>T n.2187G>T n.2150G>T | |
| 15 | g.42730642C>G | CA489895201 | CDAN1 | c.2130G>C (p.Leu710=) c.*1308G>C (n.*1308G>C) c.123G>C (p.Leu41=) c.2133G>C (p.Leu711=) c.2157G>C (p.Leu719=) c.2154G>C (p.Leu718=) c.1122G>C (p.Leu374=) c.1374G>C (p.Leu458=) n.2130G>C n.2187G>C n.2150G>C | |
| 15 | g.42730642C>T | CA489895202 | CDAN1 | c.2130G>A (p.Leu710=) c.*1308G>A (n.*1308G>A) c.123G>A (p.Leu41=) c.2133G>A (p.Leu711=) c.2157G>A (p.Leu719=) c.2154G>A (p.Leu718=) c.1122G>A (p.Leu374=) c.1374G>A (p.Leu458=) n.2130G>A n.2187G>A n.2150G>A | |
| 15 | g.42730643A>C | CA392042212 | CDAN1 | c.2129T>G (p.Leu710Arg) c.*1307T>G (n.*1307T>G) c.122T>G (p.Leu41Arg) c.2132T>G (p.Leu711Arg) c.2156T>G (p.Leu719Arg) c.2153T>G (p.Leu718Arg) c.1121T>G (p.Leu374Arg) c.1373T>G (p.Leu458Arg) n.2129T>G n.2186T>G n.2149T>G | |
| 15 | g.42730643A>G | CA392042218 | CDAN1 | c.2129T>C (p.Leu710Pro) c.*1307T>C (n.*1307T>C) c.122T>C (p.Leu41Pro) c.2132T>C (p.Leu711Pro) c.2156T>C (p.Leu719Pro) c.2153T>C (p.Leu718Pro) c.1121T>C (p.Leu374Pro) c.1373T>C (p.Leu458Pro) n.2129T>C n.2186T>C n.2149T>C | |
| 15 | g.42730643A>T | CA392042215 | CDAN1 | c.2129T>A (p.Leu710Gln) c.*1307T>A (n.*1307T>A) c.122T>A (p.Leu41Gln) c.2132T>A (p.Leu711Gln) c.2156T>A (p.Leu719Gln) c.2153T>A (p.Leu718Gln) c.1121T>A (p.Leu374Gln) c.1373T>A (p.Leu458Gln) n.2129T>A n.2186T>A n.2149T>A | |
| 15 | g.42730644G>A | CA489895203 | CDAN1 | c.2128C>T (p.Leu710=) c.*1306C>T (n.*1306C>T) c.121C>T (p.Leu41=) c.2131C>T (p.Leu711=) c.2155C>T (p.Leu719=) c.2152C>T (p.Leu718=) c.1120C>T (p.Leu374=) c.1372C>T (p.Leu458=) n.2128C>T n.2185C>T n.2148C>T | dbSNP |
| 15 | g.42730644G>C | CA392042220 | CDAN1 | c.2128C>G (p.Leu710Val) c.*1306C>G (n.*1306C>G) c.121C>G (p.Leu41Val) c.2131C>G (p.Leu711Val) c.2155C>G (p.Leu719Val) c.2152C>G (p.Leu718Val) c.1120C>G (p.Leu374Val) c.1372C>G (p.Leu458Val) n.2128C>G n.2185C>G n.2148C>G | |
| 15 | g.42730644G= | CA2172870101 | CDAN1 | c.2128C= (p.Leu710=) c.*1306C= (n.*1306C=) c.121C= (p.Leu41=) c.2131C= (p.Leu711=) c.2155C= (p.Leu719=) c.2152C= (p.Leu718=) c.1120C= (p.Leu374=) c.1372C= (p.Leu458=) n.2128C= n.2185C= n.2148C= | |
| 15 | g.42730644G>T | CA392042221 | CDAN1 | c.2128C>A (p.Leu710Met) c.*1306C>A (n.*1306C>A) c.121C>A (p.Leu41Met) c.2131C>A (p.Leu711Met) c.2155C>A (p.Leu719Met) c.2152C>A (p.Leu718Met) c.1120C>A (p.Leu374Met) c.1372C>A (p.Leu458Met) n.2128C>A n.2185C>A n.2148C>A | |
| 15 | g.42730645C>A | CA392042223 | CDAN1 | c.2127G>T (p.Leu709Phe) c.*1305G>T (n.*1305G>T) c.120G>T (p.Leu40Phe) c.2130G>T (p.Leu710Phe) c.2154G>T (p.Leu718Phe) c.2151G>T (p.Leu717Phe) c.1119G>T (p.Leu373Phe) c.1371G>T (p.Leu457Phe) n.2127G>T n.2184G>T n.2147G>T |