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.68799220A>C | CA381635170 | CPT1A | c.691T>G (p.Tyr231Asp) c.-54T>G (n.-54T>G) c.787T>G (p.Tyr263Asp) | |
| 11 | g.68799220A>G | CA381635171 | CPT1A | c.691T>C (p.Tyr231His) c.-54T>C (n.-54T>C) c.787T>C (p.Tyr263His) | |
| 11 | g.68799220A>T | CA381635172 | CPT1A | c.691T>A (p.Tyr231Asn) c.-54T>A (n.-54T>A) c.787T>A (p.Tyr263Asn) | |
| 11 | g.68799221del | CA2740098009 | CPT1A | c.691del (p.Tyr231ThrfsTer2) c.-54del (n.-54del) c.787del (p.Tyr263ThrfsTer2) | |
| 11 | g.68799221A>C | CA381635173 | CPT1A | c.690T>G (p.Asn230Lys) c.-55T>G (n.-55T>G) c.786T>G (p.Asn262Lys) | |
| 11 | g.68799221A>G | CA475204752 | CPT1A | c.690T>C (p.Asn230=) c.-55T>C (n.-55T>C) c.786T>C (p.Asn262=) | |
| 11 | g.68799221A>T | CA381635174 | CPT1A | c.690T>A (p.Asn230Lys) c.-55T>A (n.-55T>A) c.786T>A (p.Asn262Lys) | |
| 11 | g.68799222T>A | CA381635177 | CPT1A | c.689A>T (p.Asn230Ile) c.-56A>T (n.-56A>T) c.785A>T (p.Asn262Ile) | |
| 11 | g.68799222T>C | CA381635176 | CPT1A | c.689A>G (p.Asn230Ser) c.-56A>G (n.-56A>G) c.785A>G (p.Asn262Ser) | COSMIC |
| 11 | g.68799222T>G | CA381635175 | CPT1A | c.689A>C (p.Asn230Thr) c.-56A>C (n.-56A>C) c.785A>C (p.Asn262Thr) | |
| 11 | g.68799223T>A | CA381635178 | CPT1A | c.688A>T (p.Asn230Tyr) c.-57A>T (n.-57A>T) c.784A>T (p.Asn262Tyr) | |
| 11 | g.68799223T>C | CA381635179 | CPT1A | c.688A>G (p.Asn230Asp) c.-57A>G (n.-57A>G) c.784A>G (p.Asn262Asp) | |
| 11 | g.68799223T>G | CA381635180 | CPT1A | c.688A>C (p.Asn230His) c.-57A>C (n.-57A>C) c.784A>C (p.Asn262His) | |
| 11 | g.68799224T>A | CA475204758 | CPT1A | c.687A>T (p.Thr229=) c.-58A>T (n.-58A>T) c.783A>T (p.Thr261=) | |
| 11 | g.68799224T>C | CA475204759 | CPT1A | c.687A>G (p.Thr229=) c.-58A>G (n.-58A>G) c.783A>G (p.Thr261=) | ClinVar |
| 11 | g.68799224T>G | CA475204760 | CPT1A | c.687A>C (p.Thr229=) c.-58A>C (n.-58A>C) c.783A>C (p.Thr261=) | |
| 11 | g.68799225G>A | CA381635181 | CPT1A | c.686C>T (p.Thr229Ile) c.-59C>T (n.-59C>T) c.782C>T (p.Thr261Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68799225G>C | CA381635182 | CPT1A | c.686C>G (p.Thr229Arg) c.-59C>G (n.-59C>G) c.782C>G (p.Thr261Arg) | |
| 11 | g.68799225G>T | CA381635183 | CPT1A | c.686C>A (p.Thr229Lys) c.-59C>A (n.-59C>A) c.782C>A (p.Thr261Lys) | |
| 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 |