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.68794805G>A | CA381634434 | CPT1A | c.878C>T (p.Pro293Leu) c.134C>T (p.Pro45Leu) c.974C>T (p.Pro325Leu) | |
| 11 | g.68794805G>C | CA381634435 | CPT1A | c.878C>G (p.Pro293Arg) c.134C>G (p.Pro45Arg) c.974C>G (p.Pro325Arg) | gnomAD v4 |
| 11 | g.68794805G>T | CA381634436 | CPT1A | c.878C>A (p.Pro293Gln) c.134C>A (p.Pro45Gln) c.974C>A (p.Pro325Gln) | |
| 11 | g.68794806G>A | CA381634437 | CPT1A | c.877C>T (p.Pro293Ser) c.133C>T (p.Pro45Ser) c.973C>T (p.Pro325Ser) | |
| 11 | g.68794806G>C | CA381634438 | CPT1A | c.877C>G (p.Pro293Ala) c.133C>G (p.Pro45Ala) c.973C>G (p.Pro325Ala) | |
| 11 | g.68794806G>T | CA381634439 | CPT1A | c.877C>A (p.Pro293Thr) c.133C>A (p.Pro45Thr) c.973C>A (p.Pro325Thr) | |
| 11 | g.68794807T>A | CA381634440 | CPT1A | c.876A>T (p.Lys292Asn) c.132A>T (p.Lys44Asn) c.972A>T (p.Lys324Asn) | |
| 11 | g.68794807T>C | CA475203600 | CPT1A | c.876A>G (p.Lys292=) c.132A>G (p.Lys44=) c.972A>G (p.Lys324=) | dbSNP |
| 11 | g.68794807T>G | CA381634441 | CPT1A | c.876A>C (p.Lys292Asn) c.132A>C (p.Lys44Asn) c.972A>C (p.Lys324Asn) | |
| 11 | g.68794808T>A | CA381634443 | CPT1A | c.875A>T (p.Lys292Ile) c.131A>T (p.Lys44Ile) c.971A>T (p.Lys324Ile) | |
| 11 | g.68794808T>C | CA381634444 | CPT1A | c.875A>G (p.Lys292Arg) c.131A>G (p.Lys44Arg) c.971A>G (p.Lys324Arg) | |
| 11 | g.68794808T>G | CA381634442 | CPT1A | c.875A>C (p.Lys292Thr) c.131A>C (p.Lys44Thr) c.971A>C (p.Lys324Thr) | |
| 11 | g.68794809T>A | CA381634445 | CPT1A | c.874A>T (p.Lys292Ter) c.130A>T (p.Lys44Ter) c.970A>T (p.Lys324Ter) | |
| 11 | g.68794809T>C | CA381634446 | CPT1A | c.874A>G (p.Lys292Glu) c.130A>G (p.Lys44Glu) c.970A>G (p.Lys324Glu) | |
| 11 | g.68794809T>G | CA381634447 | CPT1A | c.874A>C (p.Lys292Gln) c.130A>C (p.Lys44Gln) c.970A>C (p.Lys324Gln) | |
| 11 | g.68794810G>A | CA475203611 | CPT1A | c.873C>T (p.Ile291=) c.129C>T (p.Ile43=) c.969C>T (p.Ile323=) | ClinVar dbSNP |
| 11 | g.68794810G>C | CA381634448 | CPT1A | c.873C>G (p.Ile291Met) c.129C>G (p.Ile43Met) c.969C>G (p.Ile323Met) | |
| 11 | g.68794810G>T | CA475203608 | CPT1A | c.873C>A (p.Ile291=) c.129C>A (p.Ile43=) c.969C>A (p.Ile323=) | gnomAD v4 |
| 11 | g.68794811A>C | CA381634449 | CPT1A | c.872T>G (p.Ile291Ser) c.128T>G (p.Ile43Ser) c.968T>G (p.Ile323Ser) | |
| 11 | g.68794811A>G | CA381634450 | CPT1A | c.872T>C (p.Ile291Thr) c.128T>C (p.Ile43Thr) c.968T>C (p.Ile323Thr) | |
| 11 | g.68794811A>T | CA6152502 | CPT1A | c.872T>A (p.Ile291Asn) c.128T>A (p.Ile43Asn) c.968T>A (p.Ile323Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68794812T>A | CA381634451 | CPT1A | c.871A>T (p.Ile291Phe) c.127A>T (p.Ile43Phe) c.967A>T (p.Ile323Phe) | |
| 11 | g.68794812T>C | CA381634452 | CPT1A | c.871A>G (p.Ile291Val) c.127A>G (p.Ile43Val) c.967A>G (p.Ile323Val) | |
| 11 | g.68794812T>G | CA381634453 | CPT1A | c.871A>C (p.Ile291Leu) c.127A>C (p.Ile43Leu) c.967A>C (p.Ile323Leu) | |
| 11 | g.68794813T>A | CA381634454 | CPT1A | c.870A>T (p.Glu290Asp) c.126A>T (p.Glu42Asp) c.966A>T (p.Glu322Asp) | |
| 11 | g.68794813T>C | CA475203617 | CPT1A | c.870A>G (p.Glu290=) c.126A>G (p.Glu42=) c.966A>G (p.Glu322=) | gnomAD v4 |
| 11 | g.68794813T>G | CA381634455 | CPT1A | c.870A>C (p.Glu290Asp) c.126A>C (p.Glu42Asp) c.966A>C (p.Glu322Asp) | |
| 11 | g.68794814T>A | CA381634458 | CPT1A | c.869A>T (p.Glu290Val) c.125A>T (p.Glu42Val) c.965A>T (p.Glu322Val) | |
| 11 | g.68794814T>C | CA381634459 | CPT1A | c.869A>G (p.Glu290Gly) c.125A>G (p.Glu42Gly) c.965A>G (p.Glu322Gly) | |
| 11 | g.68794814T>G | CA381634457 | CPT1A | c.869A>C (p.Glu290Ala) c.125A>C (p.Glu42Ala) c.965A>C (p.Glu322Ala) | |
| 11 | g.68794815C>A | CA381634460 | CPT1A | c.868G>T (p.Glu290Ter) c.124G>T (p.Glu42Ter) c.964G>T (p.Glu322Ter) | |
| 11 | g.68794815C>G | CA381634461 | CPT1A | c.868G>C (p.Glu290Gln) c.124G>C (p.Glu42Gln) c.964G>C (p.Glu322Gln) | |
| 11 | g.68794815C>T | CA381634462 | CPT1A | c.868G>A (p.Glu290Lys) c.124G>A (p.Glu42Lys) c.964G>A (p.Glu322Lys) | |
| 11 | g.68794816C>A | CA381634463 | CPT1A | c.867G>T (p.Glu289Asp) c.123G>T (p.Glu41Asp) c.963G>T (p.Glu321Asp) | |
| 11 | g.68794816C>G | CA381634464 | CPT1A | c.867G>C (p.Glu289Asp) c.123G>C (p.Glu41Asp) c.963G>C (p.Glu321Asp) | |
| 11 | g.68794816C>T | CA475203623 | CPT1A | c.867G>A (p.Glu289=) c.123G>A (p.Glu41=) c.963G>A (p.Glu321=) | dbSNP gnomAD v2 |
| 11 | g.68794817T>A | CA381634467 | CPT1A | c.866A>T (p.Glu289Val) c.122A>T (p.Glu41Val) c.962A>T (p.Glu321Val) | |
| 11 | g.68794817T>C | CA381634465 | CPT1A | c.866A>G (p.Glu289Gly) c.122A>G (p.Glu41Gly) c.962A>G (p.Glu321Gly) | |
| 11 | g.68794817T>G | CA381634466 | CPT1A | c.866A>C (p.Glu289Ala) c.122A>C (p.Glu41Ala) c.962A>C (p.Glu321Ala) | |
| 11 | g.68794818C>A | CA381634468 | CPT1A | c.865G>T (p.Glu289Ter) c.121G>T (p.Glu41Ter) c.961G>T (p.Glu321Ter) | |
| 11 | g.68794818C>G | CA381634469 | CPT1A | c.865G>C (p.Glu289Gln) c.121G>C (p.Glu41Gln) c.961G>C (p.Glu321Gln) | |
| 11 | g.68794818C>T | CA6152503 | CPT1A | c.865G>A (p.Glu289Lys) c.121G>A (p.Glu41Lys) c.961G>A (p.Glu321Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68794819C>A | CA475203629 | CPT1A | c.864G>T (p.Arg288=) c.120G>T (p.Arg40=) c.960G>T (p.Arg320=) | |
| 11 | g.68794819C>G | CA475203633 | CPT1A | c.864G>C (p.Arg288=) c.120G>C (p.Arg40=) c.960G>C (p.Arg320=) | |
| 11 | g.68794819C>T | CA475203635 | CPT1A | c.864G>A (p.Arg288=) c.120G>A (p.Arg40=) c.960G>A (p.Arg320=) | |
| 11 | g.68794820C>A | CA381634470 | CPT1A | c.863G>T (p.Arg288Leu) c.119G>T (p.Arg40Leu) c.959G>T (p.Arg320Leu) | gnomAD v4 |
| 11 | g.68794820C= | CA2581028866 | CPT1A | c.863G= (p.Arg288=) c.119G= (p.Arg40=) c.959G= (p.Arg320=) | |
| 11 | g.68794820C>G | CA381634471 | CPT1A | c.863G>C (p.Arg288Pro) c.119G>C (p.Arg40Pro) c.959G>C (p.Arg320Pro) | |
| 11 | g.68794820C>T | CA312413 | CPT1A | c.863G>A (p.Arg288Gln) c.119G>A (p.Arg40Gln) c.959G>A (p.Arg320Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68794821G>A | CA6152504 | CPT1A | c.862C>T (p.Arg288Trp) c.118C>T (p.Arg40Trp) c.958C>T (p.Arg320Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |