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.68759577_68759608del | CA645575722 | CPT1A | c.2197_2228del (p.Asn733Ter) c.2293_2324del (p.Asn765Ter) | COSMIC |
| 11 | g.68759581A>C | CA475181618 | CPT1A | c.2223T>G (p.Ser741=) c.2319T>G (p.Ser773=) | |
| 11 | g.68759581A>G | CA223365653 | CPT1A | c.2223T>C (p.Ser741=) c.2319T>C (p.Ser773=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759581A>T | CA475181619 | CPT1A | c.2223T>A (p.Ser741=) c.2319T>A (p.Ser773=) | |
| 11 | g.68759582G>A | CA381625410 | CPT1A | c.2222C>T (p.Ser741Phe) c.2318C>T (p.Ser773Phe) | gnomAD v4 |
| 11 | g.68759582G>C | CA381625411 | CPT1A | c.2222C>G (p.Ser741Cys) c.2318C>G (p.Ser773Cys) | |
| 11 | g.68759582G>T | CA381625414 | CPT1A | c.2222C>A (p.Ser741Tyr) c.2318C>A (p.Ser773Tyr) | |
| 11 | g.68759583A>C | CA381625422 | CPT1A | c.2221T>G (p.Ser741Ala) c.2317T>G (p.Ser773Ala) | |
| 11 | g.68759583A>G | CA381625419 | CPT1A | c.2221T>C (p.Ser741Pro) c.2317T>C (p.Ser773Pro) | |
| 11 | g.68759583A>T | CA381625417 | CPT1A | c.2221T>A (p.Ser741Thr) c.2317T>A (p.Ser773Thr) | |
| 11 | g.68759584G>A | CA475181620 | CPT1A | c.2220C>T (p.Phe740=) c.2316C>T (p.Phe772=) | |
| 11 | g.68759584G>C | CA381625424 | CPT1A | c.2220C>G (p.Phe740Leu) c.2316C>G (p.Phe772Leu) | |
| 11 | g.68759584G>T | CA381625426 | CPT1A | c.2220C>A (p.Phe740Leu) c.2316C>A (p.Phe772Leu) | dbSNP |
| 11 | g.68759585A>C | CA381625430 | CPT1A | c.2219T>G (p.Phe740Cys) c.2315T>G (p.Phe772Cys) | |
| 11 | g.68759585A>G | CA381625432 | CPT1A | c.2219T>C (p.Phe740Ser) c.2315T>C (p.Phe772Ser) | COSMIC COSMIC |
| 11 | g.68759585A>T | CA381625434 | CPT1A | c.2219T>A (p.Phe740Tyr) c.2315T>A (p.Phe772Tyr) | |
| 11 | g.68759586A>C | CA381625437 | CPT1A | c.2218T>G (p.Phe740Val) c.2314T>G (p.Phe772Val) | |
| 11 | g.68759586A>G | CA381625439 | CPT1A | c.2218T>C (p.Phe740Leu) c.2314T>C (p.Phe772Leu) | |
| 11 | g.68759586A>T | CA381625441 | CPT1A | c.2218T>A (p.Phe740Ile) c.2314T>A (p.Phe772Ile) | |
| 11 | g.68759587C>A | CA381625444 | CPT1A | c.2217G>T (p.Lys739Asn) c.2313G>T (p.Lys771Asn) | |
| 11 | g.68759587C>G | CA381625446 | CPT1A | c.2217G>C (p.Lys739Asn) c.2313G>C (p.Lys771Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759587C>T | CA475181621 | CPT1A | c.2217G>A (p.Lys739=) c.2313G>A (p.Lys771=) | |
| 11 | g.68759588T>A | CA381625448 | CPT1A | c.2216A>T (p.Lys739Met) c.2312A>T (p.Lys771Met) | |
| 11 | g.68759588T>C | CA381625450 | CPT1A | c.2216A>G (p.Lys739Arg) c.2312A>G (p.Lys771Arg) | |
| 11 | g.68759588T>G | CA381625453 | CPT1A | c.2216A>C (p.Lys739Thr) c.2312A>C (p.Lys771Thr) | gnomAD v4 |
| 11 | g.68759589T>A | CA381625459 | CPT1A | c.2215A>T (p.Lys739Ter) c.2311A>T (p.Lys771Ter) | |
| 11 | g.68759589T>C | CA6152044 | CPT1A | c.2215A>G (p.Lys739Glu) c.2311A>G (p.Lys771Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759589T>G | CA381625457 | CPT1A | c.2215A>C (p.Lys739Gln) c.2311A>C (p.Lys771Gln) | dbSNP gnomAD v2 |
| 11 | g.68759590G>A | CA475181622 | CPT1A | c.2214C>T (p.Ser738=) c.2310C>T (p.Ser770=) | |
| 11 | g.68759590G>C | CA475181624 | CPT1A | c.2214C>G (p.Ser738=) c.2310C>G (p.Ser770=) | gnomAD v4 |
| 11 | g.68759590G>T | CA475181623 | CPT1A | c.2214C>A (p.Ser738=) c.2310C>A (p.Ser770=) | |
| 11 | g.68759591G>A | CA381625462 | CPT1A | c.2213C>T (p.Ser738Phe) c.2309C>T (p.Ser770Phe) | |
| 11 | g.68759591G>C | CA381625464 | CPT1A | c.2213C>G (p.Ser738Cys) c.2309C>G (p.Ser770Cys) | |
| 11 | g.68759591G>T | CA381625466 | CPT1A | c.2213C>A (p.Ser738Tyr) c.2309C>A (p.Ser770Tyr) | |
| 11 | g.68759592A>C | CA381625468 | CPT1A | c.2212T>G (p.Ser738Ala) c.2308T>G (p.Ser770Ala) | |
| 11 | g.68759592A>G | CA381625470 | CPT1A | c.2212T>C (p.Ser738Pro) c.2308T>C (p.Ser770Pro) | |
| 11 | g.68759592A>T | CA381625473 | CPT1A | c.2212T>A (p.Ser738Thr) c.2308T>A (p.Ser770Thr) | |
| 11 | g.68759593A>C | CA475181625 | CPT1A | c.2211T>G (p.Ser737=) c.2307T>G (p.Ser769=) | |
| 11 | g.68759593A>G | CA475181626 | CPT1A | c.2211T>C (p.Ser737=) c.2307T>C (p.Ser769=) | gnomAD v4 |
| 11 | g.68759593A>T | CA475181627 | CPT1A | c.2211T>A (p.Ser737=) c.2307T>A (p.Ser769=) | |
| 11 | g.68759594G>A | CA381625476 | CPT1A | c.2210C>T (p.Ser737Phe) c.2306C>T (p.Ser769Phe) | |
| 11 | g.68759594G>C | CA381625478 | CPT1A | c.2210C>G (p.Ser737Cys) c.2306C>G (p.Ser769Cys) | |
| 11 | g.68759594G>T | CA381625480 | CPT1A | c.2210C>A (p.Ser737Tyr) c.2306C>A (p.Ser769Tyr) | |
| 11 | g.68759595A>C | CA381625483 | CPT1A | c.2209T>G (p.Ser737Ala) c.2305T>G (p.Ser769Ala) | |
| 11 | g.68759595A>G | CA381625486 | CPT1A | c.2209T>C (p.Ser737Pro) c.2305T>C (p.Ser769Pro) | |
| 11 | g.68759595A>T | CA381625488 | CPT1A | c.2209T>A (p.Ser737Thr) c.2305T>A (p.Ser769Thr) | |
| 11 | g.68759596A>C | CA381625491 | CPT1A | c.2208T>G (p.Ile736Met) c.2304T>G (p.Ile768Met) | |
| 11 | g.68759596A>G | CA475181628 | CPT1A | c.2208T>C (p.Ile736=) c.2304T>C (p.Ile768=) | |
| 11 | g.68759596A>T | CA475181629 | CPT1A | c.2208T>A (p.Ile736=) c.2304T>A (p.Ile768=) | |
| 11 | g.68759597A>C | CA381625492 | CPT1A | c.2207T>G (p.Ile736Ser) c.2303T>G (p.Ile768Ser) |