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 |
|---|---|---|---|---|---|
| 19 | g.41985090A= | CA2336728025 | ATP1A3 | c.860T= (p.Ile287=) c.821T= (p.Ile274=) c.731T= (p.Ile244=) n.134T= c.854T= (p.Ile285=) | |
| 19 | g.41985090A>C | CA406052965 | ATP1A3 | c.860T>G (p.Ile287Ser) c.821T>G (p.Ile274Ser) c.731T>G (p.Ile244Ser) n.134T>G c.854T>G (p.Ile285Ser) | |
| 19 | g.41985090A>G | CA341234 | ATP1A3 | c.860T>C (p.Ile287Thr) c.821T>C (p.Ile274Thr) c.731T>C (p.Ile244Thr) n.134T>C c.854T>C (p.Ile285Thr) | ClinVar dbSNP |
| 19 | g.41985090A>T | CA346000 | ATP1A3 | c.860T>A (p.Ile287Asn) c.821T>A (p.Ile274Asn) c.731T>A (p.Ile244Asn) n.134T>A c.854T>A (p.Ile285Asn) | ClinVar dbSNP gnomAD v4 |
| 19 | g.41985091T>A | CA406052972 | ATP1A3 | c.859A>T (p.Ile287Phe) c.820A>T (p.Ile274Phe) c.730A>T (p.Ile244Phe) n.133A>T c.853A>T (p.Ile285Phe) | ClinVar |
| 19 | g.41985091T>C | CA406052974 | ATP1A3 | c.859A>G (p.Ile287Val) c.820A>G (p.Ile274Val) c.730A>G (p.Ile244Val) n.133A>G c.853A>G (p.Ile285Val) | dbSNP |
| 19 | g.41985091T>G | CA406052976 | ATP1A3 | c.859A>C (p.Ile287Leu) c.820A>C (p.Ile274Leu) c.730A>C (p.Ile244Leu) n.133A>C c.853A>C (p.Ile285Leu) | |
| 19 | g.41985091T= | CA2336728026 | ATP1A3 | c.859A= (p.Ile287=) c.820A= (p.Ile274=) c.730A= (p.Ile244=) n.133A= c.853A= (p.Ile285=) | |
| 19 | g.41985092G>A | CA507695153 | ATP1A3 | c.858C>T (p.Pro286=) c.819C>T (p.Pro273=) c.729C>T (p.Pro243=) n.132C>T c.852C>T (p.Pro284=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41985092G>C | CA507695154 | ATP1A3 | c.858C>G (p.Pro286=) c.819C>G (p.Pro273=) c.729C>G (p.Pro243=) n.132C>G c.852C>G (p.Pro284=) | |
| 19 | g.41985092G= | CA2336728027 | ATP1A3 | c.858C= (p.Pro286=) c.819C= (p.Pro273=) c.729C= (p.Pro243=) n.132C= c.852C= (p.Pro284=) | |
| 19 | g.41985092G>T | CA9467774 | ATP1A3 | c.858C>A (p.Pro286=) c.819C>A (p.Pro273=) c.729C>A (p.Pro243=) n.132C>A c.852C>A (p.Pro284=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41985093G>A | CA406052980 | ATP1A3 | c.857C>T (p.Pro286Leu) c.818C>T (p.Pro273Leu) c.728C>T (p.Pro243Leu) n.131C>T c.851C>T (p.Pro284Leu) | |
| 19 | g.41985093G>C | CA406052985 | ATP1A3 | c.857C>G (p.Pro286Arg) c.818C>G (p.Pro273Arg) c.728C>G (p.Pro243Arg) n.131C>G c.851C>G (p.Pro284Arg) | |
| 19 | g.41985093G>T | CA406052982 | ATP1A3 | c.857C>A (p.Pro286His) c.818C>A (p.Pro273His) c.728C>A (p.Pro243His) n.131C>A c.851C>A (p.Pro284His) | |
| 19 | g.41985094G>A | CA406052987 | ATP1A3 | c.856C>T (p.Pro286Ser) c.817C>T (p.Pro273Ser) c.727C>T (p.Pro243Ser) n.130C>T c.850C>T (p.Pro284Ser) | |
| 19 | g.41985094G>C | CA406052990 | ATP1A3 | c.856C>G (p.Pro286Ala) c.817C>G (p.Pro273Ala) c.727C>G (p.Pro243Ala) n.130C>G c.850C>G (p.Pro284Ala) | |
| 19 | g.41985094G>T | CA406052992 | ATP1A3 | c.856C>A (p.Pro286Thr) c.817C>A (p.Pro273Thr) c.727C>A (p.Pro243Thr) n.130C>A c.850C>A (p.Pro284Thr) | |
| 19 | g.41985095C>A | CA507695159 | ATP1A3 | c.855G>T (p.Thr285=) c.816G>T (p.Thr272=) c.726G>T (p.Thr242=) n.129G>T c.849G>T (p.Thr283=) | |
| 19 | g.41985095C= | CA2336728028 | ATP1A3 | c.855G= (p.Thr285=) c.816G= (p.Thr272=) c.726G= (p.Thr242=) n.129G= c.849G= (p.Thr283=) | |
| 19 | g.41985095C>G | CA507695158 | ATP1A3 | c.855G>C (p.Thr285=) c.816G>C (p.Thr272=) c.726G>C (p.Thr242=) n.129G>C c.849G>C (p.Thr283=) | |
| 19 | g.41985095C>T | CA9467775 | ATP1A3 | c.855G>A (p.Thr285=) c.816G>A (p.Thr272=) c.726G>A (p.Thr242=) n.129G>A c.849G>A (p.Thr283=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41985096G>A | CA406052996 | ATP1A3 | c.854C>T (p.Thr285Met) c.815C>T (p.Thr272Met) c.725C>T (p.Thr242Met) n.128C>T c.848C>T (p.Thr283Met) | COSMIC |
| 19 | g.41985096G>C | CA406053001 | ATP1A3 | c.854C>G (p.Thr285Arg) c.815C>G (p.Thr272Arg) c.725C>G (p.Thr242Arg) n.128C>G c.848C>G (p.Thr283Arg) | gnomAD v4 |
| 19 | g.41985096G>T | CA406052999 | ATP1A3 | c.854C>A (p.Thr285Lys) c.815C>A (p.Thr272Lys) c.725C>A (p.Thr242Lys) n.128C>A c.848C>A (p.Thr283Lys) | |
| 19 | g.41985097T>A | CA406053004 | ATP1A3 | c.853A>T (p.Thr285Ser) c.814A>T (p.Thr272Ser) c.724A>T (p.Thr242Ser) n.127A>T c.847A>T (p.Thr283Ser) | |
| 19 | g.41985097T>C | CA406053006 | ATP1A3 | c.853A>G (p.Thr285Ala) c.814A>G (p.Thr272Ala) c.724A>G (p.Thr242Ala) n.127A>G c.847A>G (p.Thr283Ala) | gnomAD v4 |
| 19 | g.41985097T>G | CA406053009 | ATP1A3 | c.853A>C (p.Thr285Pro) c.814A>C (p.Thr272Pro) c.724A>C (p.Thr242Pro) n.127A>C c.847A>C (p.Thr283Pro) | |
| 19 | g.41985098C>A | CA406053011 | ATP1A3 | c.852G>T (p.Lys284Asn) c.813G>T (p.Lys271Asn) c.723G>T (p.Lys241Asn) n.126G>T c.846G>T (p.Lys282Asn) | |
| 19 | g.41985098C>G | CA406053014 | ATP1A3 | c.852G>C (p.Lys284Asn) c.813G>C (p.Lys271Asn) c.723G>C (p.Lys241Asn) n.126G>C c.846G>C (p.Lys282Asn) | |
| 19 | g.41985098C>T | CA507695164 | ATP1A3 | c.852G>A (p.Lys284=) c.813G>A (p.Lys271=) c.723G>A (p.Lys241=) n.126G>A c.846G>A (p.Lys282=) | |
| 19 | g.41985099T>A | CA406053016 | ATP1A3 | c.851A>T (p.Lys284Met) c.812A>T (p.Lys271Met) c.722A>T (p.Lys241Met) n.125A>T c.845A>T (p.Lys282Met) | |
| 19 | g.41985099T>C | CA406053025 | ATP1A3 | c.851A>G (p.Lys284Arg) c.812A>G (p.Lys271Arg) c.722A>G (p.Lys241Arg) n.125A>G c.845A>G (p.Lys282Arg) | |
| 19 | g.41985099T>G | CA406053027 | ATP1A3 | c.851A>C (p.Lys284Thr) c.812A>C (p.Lys271Thr) c.722A>C (p.Lys241Thr) n.125A>C c.845A>C (p.Lys282Thr) | |
| 19 | g.41985100T>A | CA406053029 | ATP1A3 | c.850A>T (p.Lys284Ter) c.811A>T (p.Lys271Ter) c.721A>T (p.Lys241Ter) n.124A>T c.844A>T (p.Lys282Ter) | |
| 19 | g.41985100T>C | CA406053030 | ATP1A3 | c.850A>G (p.Lys284Glu) c.811A>G (p.Lys271Glu) c.721A>G (p.Lys241Glu) n.124A>G c.844A>G (p.Lys282Glu) | dbSNP |
| 19 | g.41985100T>G | CA406053032 | ATP1A3 | c.850A>C (p.Lys284Gln) c.811A>C (p.Lys271Gln) c.721A>C (p.Lys241Gln) n.124A>C c.844A>C (p.Lys282Gln) | |
| 19 | g.41985100T= | CA2336728029 | ATP1A3 | c.850A= (p.Lys284=) c.811A= (p.Lys271=) c.721A= (p.Lys241=) n.124A= c.844A= (p.Lys282=) | |
| 19 | g.41985101G>A | CA507695169 | ATP1A3 | c.849C>T (p.Gly283=) c.810C>T (p.Gly270=) c.720C>T (p.Gly240=) n.123C>T c.843C>T (p.Gly281=) | |
| 19 | g.41985101G>C | CA507695171 | ATP1A3 | c.849C>G (p.Gly283=) c.810C>G (p.Gly270=) c.720C>G (p.Gly240=) n.123C>G c.843C>G (p.Gly281=) | gnomAD v4 |
| 19 | g.41985101G= | CA2336728030 | ATP1A3 | c.849C= (p.Gly283=) c.810C= (p.Gly270=) c.720C= (p.Gly240=) n.123C= c.843C= (p.Gly281=) | |
| 19 | g.41985101G>T | CA507695170 | ATP1A3 | c.849C>A (p.Gly283=) c.810C>A (p.Gly270=) c.720C>A (p.Gly240=) n.123C>A c.843C>A (p.Gly281=) | dbSNP |
| 19 | g.41985102C>A | CA406053041 | ATP1A3 | c.848G>T (p.Gly283Val) c.809G>T (p.Gly270Val) c.719G>T (p.Gly240Val) n.122G>T c.842G>T (p.Gly281Val) | |
| 19 | g.41985102C= | CA2336728031 | ATP1A3 | c.848G= (p.Gly283=) c.809G= (p.Gly270=) c.719G= (p.Gly240=) n.122G= c.842G= (p.Gly281=) | |
| 19 | g.41985102C>G | CA406053038 | ATP1A3 | c.848G>C (p.Gly283Ala) c.809G>C (p.Gly270Ala) c.719G>C (p.Gly240Ala) n.122G>C c.842G>C (p.Gly281Ala) | |
| 19 | g.41985102C>T | CA406053036 | ATP1A3 | c.848G>A (p.Gly283Asp) c.809G>A (p.Gly270Asp) c.719G>A (p.Gly240Asp) n.122G>A c.842G>A (p.Gly281Asp) | ClinVar dbSNP gnomAD v2 |
| 19 | g.41985103C>A | CA406053044 | ATP1A3 | c.847G>T (p.Gly283Cys) c.808G>T (p.Gly270Cys) c.718G>T (p.Gly240Cys) n.121G>T c.841G>T (p.Gly281Cys) | |
| 19 | g.41985103C>G | CA406053046 | ATP1A3 | c.847G>C (p.Gly283Arg) c.808G>C (p.Gly270Arg) c.718G>C (p.Gly240Arg) n.121G>C c.841G>C (p.Gly281Arg) | |
| 19 | g.41985103C>T | CA406053049 | ATP1A3 | c.847G>A (p.Gly283Ser) c.808G>A (p.Gly270Ser) c.718G>A (p.Gly240Ser) n.121G>A c.841G>A (p.Gly281Ser) | ClinVar |
| 19 | g.41985104C>A | CA507695175 | ATP1A3 | c.846G>T (p.Val282=) c.807G>T (p.Val269=) c.717G>T (p.Val239=) n.120G>T c.840G>T (p.Val280=) |