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 |
|---|---|---|---|---|---|
| 11 | g.68799226T>A | CA381635184 | CPT1A | c.685A>T (p.Thr229Ser) c.-60A>T (n.-60A>T) c.781A>T (p.Thr261Ser) | |
| 11 | g.68799226T>C | CA381635186 | CPT1A | c.685A>G (p.Thr229Ala) c.-60A>G (n.-60A>G) c.781A>G (p.Thr261Ala) | |
| 11 | g.68799226T>G | CA381635185 | CPT1A | c.685A>C (p.Thr229Pro) c.-60A>C (n.-60A>C) c.781A>C (p.Thr261Pro) | gnomAD v4 |
| 11 | g.68799227A>C | CA475204763 | CPT1A | c.684T>G (p.Ala228=) c.-61T>G (n.-61T>G) c.780T>G (p.Ala260=) | |
| 11 | g.68799227A>G | CA475204764 | CPT1A | c.684T>C (p.Ala228=) c.-61T>C (n.-61T>C) c.780T>C (p.Ala260=) | gnomAD v4 |
| 11 | g.68799227A>T | CA475204767 | CPT1A | c.684T>A (p.Ala228=) c.-61T>A (n.-61T>A) c.780T>A (p.Ala260=) | |
| 11 | g.68799228G>A | CA381635187 | CPT1A | c.683C>T (p.Ala228Val) c.-62C>T (n.-62C>T) c.779C>T (p.Ala260Val) | |
| 11 | g.68799228G>C | CA381635188 | CPT1A | c.683C>G (p.Ala228Gly) c.-62C>G (n.-62C>G) c.779C>G (p.Ala260Gly) | ClinVar gnomAD v4 |
| 11 | g.68799228G>T | CA381635189 | CPT1A | c.683C>A (p.Ala228Asp) c.-62C>A (n.-62C>A) c.779C>A (p.Ala260Asp) | |
| 11 | g.68799229C>A | CA381635190 | CPT1A | c.682G>T (p.Ala228Ser) c.-63G>T (n.-63G>T) c.778G>T (p.Ala260Ser) | |
| 11 | g.68799229C>G | CA381635191 | CPT1A | c.682G>C (p.Ala228Pro) c.-63G>C (n.-63G>C) c.778G>C (p.Ala260Pro) | |
| 11 | g.68799229C>T | CA381635192 | CPT1A | c.682G>A (p.Ala228Thr) c.-63G>A (n.-63G>A) c.778G>A (p.Ala260Thr) | |
| 11 | g.68799230C>A | CA381635193 | CPT1A | c.681G>T (p.Trp227Cys) c.-64G>T (n.-64G>T) c.777G>T (p.Trp259Cys) | |
| 11 | g.68799230C>G | CA381635194 | CPT1A | c.681G>C (p.Trp227Cys) c.-64G>C (n.-64G>C) c.777G>C (p.Trp259Cys) | |
| 11 | g.68799230C>T | CA381635195 | CPT1A | c.681G>A (p.Trp227Ter) c.-64G>A (n.-64G>A) c.777G>A (p.Trp259Ter) | |
| 11 | g.68799231C>A | CA381635196 | CPT1A | c.680G>T (p.Trp227Leu) c.-65G>T (n.-65G>T) c.776G>T (p.Trp259Leu) | |
| 11 | g.68799231C>G | CA381635197 | CPT1A | c.680G>C (p.Trp227Ser) c.-65G>C (n.-65G>C) c.776G>C (p.Trp259Ser) | |
| 11 | g.68799231C>T | CA381635198 | CPT1A | c.680G>A (p.Trp227Ter) c.-65G>A (n.-65G>A) c.776G>A (p.Trp259Ter) | |
| 11 | g.68799232A>C | CA381635199 | CPT1A | c.679T>G (p.Trp227Gly) c.-66T>G (n.-66T>G) c.775T>G (p.Trp259Gly) | |
| 11 | g.68799232A>G | CA381635201 | CPT1A | c.679T>C (p.Trp227Arg) c.-66T>C (n.-66T>C) c.775T>C (p.Trp259Arg) | |
| 11 | g.68799232A>T | CA381635200 | CPT1A | c.679T>A (p.Trp227Arg) c.-66T>A (n.-66T>A) c.775T>A (p.Trp259Arg) | |
| 11 | g.68799233C>A | CA381635202 | CPT1A | c.678G>T (p.Trp226Cys) c.-67G>T (n.-67G>T) c.774G>T (p.Trp258Cys) | |
| 11 | g.68799233C>G | CA6152598 | CPT1A | c.678G>C (p.Trp226Cys) c.-67G>C (n.-67G>C) c.774G>C (p.Trp258Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68799233C>T | CA381635203 | CPT1A | c.678G>A (p.Trp226Ter) c.-67G>A (n.-67G>A) c.774G>A (p.Trp258Ter) | |
| 11 | g.68799234C>A | CA381635204 | CPT1A | c.677G>T (p.Trp226Leu) c.-68G>T (n.-68G>T) c.773G>T (p.Trp258Leu) | |
| 11 | g.68799234C>G | CA381635205 | CPT1A | c.677G>C (p.Trp226Ser) c.-68G>C (n.-68G>C) c.773G>C (p.Trp258Ser) | |
| 11 | g.68799234C>T | CA381635206 | CPT1A | c.677G>A (p.Trp226Ter) c.-68G>A (n.-68G>A) c.773G>A (p.Trp258Ter) | |
| 11 | g.68799235A>C | CA381635207 | CPT1A | c.676T>G (p.Trp226Gly) c.-69T>G (n.-69T>G) c.772T>G (p.Trp258Gly) | |
| 11 | g.68799235A>G | CA381635208 | CPT1A | c.676T>C (p.Trp226Arg) c.-69T>C (n.-69T>C) c.772T>C (p.Trp258Arg) | |
| 11 | g.68799235A>T | CA381635209 | CPT1A | c.676T>A (p.Trp226Arg) c.-69T>A (n.-69T>A) c.772T>A (p.Trp258Arg) | |
| 11 | g.68799236G>A | CA223389958 | CPT1A | c.675C>T (p.Ser225=) c.-70C>T (n.-70C>T) c.771C>T (p.Ser257=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68799236G>C | CA475204784 | CPT1A | c.675C>G (p.Ser225=) c.-70C>G (n.-70C>G) c.771C>G (p.Ser257=) | |
| 11 | g.68799236G>T | CA475204783 | CPT1A | c.675C>A (p.Ser225=) c.-70C>A (n.-70C>A) c.771C>A (p.Ser257=) | |
| 11 | g.68799237G>A | CA223389966 | CPT1A | c.674C>T (p.Ser225Phe) c.-71C>T (n.-71C>T) c.770C>T (p.Ser257Phe) | dbSNP COSMIC COSMIC |
| 11 | g.68799237G>C | CA381635210 | CPT1A | c.674C>G (p.Ser225Cys) c.-71C>G (n.-71C>G) c.770C>G (p.Ser257Cys) | |
| 11 | g.68799237G>T | CA381635211 | CPT1A | c.674C>A (p.Ser225Tyr) c.-71C>A (n.-71C>A) c.770C>A (p.Ser257Tyr) | gnomAD v4 |
| 11 | g.68799238A>C | CA381635212 | CPT1A | c.673T>G (p.Ser225Ala) c.-72T>G (n.-72T>G) c.769T>G (p.Ser257Ala) | |
| 11 | g.68799238A>G | CA381635213 | CPT1A | c.673T>C (p.Ser225Pro) c.-72T>C (n.-72T>C) c.769T>C (p.Ser257Pro) | |
| 11 | g.68799238A>T | CA381635214 | CPT1A | c.673T>A (p.Ser225Thr) c.-72T>A (n.-72T>A) c.769T>A (p.Ser257Thr) | |
| 11 | g.68799239T>A | CA381635215 | CPT1A | c.672A>T (p.Lys224Asn) c.-73A>T (n.-73A>T) c.768A>T (p.Lys256Asn) | |
| 11 | g.68799239T>C | CA475204790 | CPT1A | c.672A>G (p.Lys224=) c.-73A>G (n.-73A>G) c.768A>G (p.Lys256=) | |
| 11 | g.68799239T>G | CA381635216 | CPT1A | c.672A>C (p.Lys224Asn) c.-73A>C (n.-73A>C) c.768A>C (p.Lys256Asn) | |
| 11 | g.68799240T>A | CA381635217 | CPT1A | c.671A>T (p.Lys224Ile) c.-74A>T (n.-74A>T) c.767A>T (p.Lys256Ile) | |
| 11 | g.68799240T>C | CA381635218 | CPT1A | c.671A>G (p.Lys224Arg) c.-74A>G (n.-74A>G) c.767A>G (p.Lys256Arg) | |
| 11 | g.68799240T>G | CA381635219 | CPT1A | c.671A>C (p.Lys224Thr) c.-74A>C (n.-74A>C) c.767A>C (p.Lys256Thr) | |
| 11 | g.68799241T>A | CA381635220 | CPT1A | c.670A>T (p.Lys224Ter) c.-75A>T (n.-75A>T) c.766A>T (p.Lys256Ter) | |
| 11 | g.68799241T>C | CA381635221 | CPT1A | c.670A>G (p.Lys224Glu) c.-75A>G (n.-75A>G) c.766A>G (p.Lys256Glu) | |
| 11 | g.68799241T>G | CA381635222 | CPT1A | c.670A>C (p.Lys224Gln) c.-75A>C (n.-75A>C) c.766A>C (p.Lys256Gln) | |
| 11 | g.68799242T>A | CA381635223 | CPT1A | c.669A>T (p.Leu223Phe) c.-76A>T (n.-76A>T) c.765A>T (p.Leu255Phe) | |
| 11 | g.68799242T>C | CA6152599 | CPT1A | c.669A>G (p.Leu223=) c.-76A>G (n.-76A>G) c.765A>G (p.Leu255=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |