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 |
|---|---|---|---|---|---|
| X | g.153869827T>A | CA415130495 | L1CAM | c.1099A>T (p.Arg367Ter) c.1084A>T (p.Arg362Ter) | |
| X | g.153869827T>C | CA415130498 | L1CAM | c.1099A>G (p.Arg367Gly) c.1084A>G (p.Arg362Gly) | |
| X | g.153869827T>G | CA519343925 | L1CAM | c.1099A>C (p.Arg367=) c.1084A>C (p.Arg362=) | |
| X | g.153869828C>A | CA415130500 | L1CAM | c.1098G>T (p.Trp366Cys) c.1083G>T (p.Trp361Cys) | |
| X | g.153869828C>G | CA415130502 | L1CAM | c.1098G>C (p.Trp366Cys) c.1083G>C (p.Trp361Cys) | |
| X | g.153869828C>T | CA415130503 | L1CAM | c.1098G>A (p.Trp366Ter) c.1083G>A (p.Trp361Ter) | |
| X | g.153869829C>A | CA415130507 | L1CAM | c.1097G>T (p.Trp366Leu) c.1082G>T (p.Trp361Leu) | |
| X | g.153869829C>G | CA415130508 | L1CAM | c.1097G>C (p.Trp366Ser) c.1082G>C (p.Trp361Ser) | |
| X | g.153869829C>T | CA415130510 | L1CAM | c.1097G>A (p.Trp366Ter) c.1082G>A (p.Trp361Ter) | |
| X | g.153869830A>C | CA415130513 | L1CAM | c.1096T>G (p.Trp366Gly) c.1081T>G (p.Trp361Gly) | |
| X | g.153869830A>G | CA415130514 | L1CAM | c.1096T>C (p.Trp366Arg) c.1081T>C (p.Trp361Arg) | |
| X | g.153869830A>T | CA415130518 | L1CAM | c.1096T>A (p.Trp366Arg) c.1081T>A (p.Trp361Arg) | |
| X | g.153869831G>A | CA519343928 | L1CAM | c.1095C>T (p.Thr365=) c.1080C>T (p.Thr360=) | |
| X | g.153869831G>C | CA519343926 | L1CAM | c.1095C>G (p.Thr365=) c.1080C>G (p.Thr360=) | |
| X | g.153869831G>T | CA519343927 | L1CAM | c.1095C>A (p.Thr365=) c.1080C>A (p.Thr360=) | |
| X | g.153869832G>A | CA415130530 | L1CAM | c.1094C>T (p.Thr365Ile) c.1079C>T (p.Thr360Ile) | |
| X | g.153869832G>C | CA415130533 | L1CAM | c.1094C>G (p.Thr365Ser) c.1079C>G (p.Thr360Ser) | |
| X | g.153869832G>T | CA415130541 | L1CAM | c.1094C>A (p.Thr365Asn) c.1079C>A (p.Thr360Asn) | |
| X | g.153869833T>A | CA415130554 | L1CAM | c.1093A>T (p.Thr365Ser) c.1078A>T (p.Thr360Ser) | |
| X | g.153869833T>C | CA415130549 | L1CAM | c.1093A>G (p.Thr365Ala) c.1078A>G (p.Thr360Ala) | |
| X | g.153869833T>G | CA415130546 | L1CAM | c.1093A>C (p.Thr365Pro) c.1078A>C (p.Thr360Pro) | |
| X | g.153869834G>A | CA10554437 | L1CAM | c.1092C>T (p.Val364=) c.1077C>T (p.Val359=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153869834G>C | CA519343929 | L1CAM | c.1092C>G (p.Val364=) c.1077C>G (p.Val359=) | |
| X | g.153869834G= | CA2466506934 | L1CAM | c.1092C= (p.Val364=) c.1077C= (p.Val359=) | |
| X | g.153869834G>T | CA519343930 | L1CAM | c.1092C>A (p.Val364=) c.1077C>A (p.Val359=) | |
| X | g.153869835A>C | CA415130561 | L1CAM | c.1091T>G (p.Val364Gly) c.1076T>G (p.Val359Gly) | |
| X | g.153869835A>G | CA415130564 | L1CAM | c.1091T>C (p.Val364Ala) c.1076T>C (p.Val359Ala) | |
| X | g.153869835A>T | CA415130567 | L1CAM | c.1091T>A (p.Val364Asp) c.1076T>A (p.Val359Asp) | |
| X | g.153869836C>A | CA415130571 | L1CAM | c.1090G>T (p.Val364Phe) c.1075G>T (p.Val359Phe) | |
| X | g.153869836C>G | CA415130573 | L1CAM | c.1090G>C (p.Val364Leu) c.1075G>C (p.Val359Leu) | |
| X | g.153869836C>T | CA415130577 | L1CAM | c.1090G>A (p.Val364Ile) c.1075G>A (p.Val359Ile) | gnomAD v4 |
| X | g.153869837C>A | CA415130580 | L1CAM | c.1089G>T (p.Glu363Asp) c.1074G>T (p.Glu358Asp) | |
| X | g.153869837C>G | CA415130583 | L1CAM | c.1089G>C (p.Glu363Asp) c.1074G>C (p.Glu358Asp) | |
| X | g.153869837C>T | CA519343931 | L1CAM | c.1089G>A (p.Glu363=) c.1074G>A (p.Glu358=) | |
| X | g.153869839_153869840del | CA2579732966 | L1CAM | c.1088_1089del (p.Glu363GlyfsTer?) c.1073_1074del (p.Glu358GlyfsTer?) | |
| X | g.153869838T>A | CA415130585 | L1CAM | c.1088A>T (p.Glu363Val) c.1073A>T (p.Glu358Val) | |
| X | g.153869838T>C | CA337263275 | L1CAM | c.1088A>G (p.Glu363Gly) c.1073A>G (p.Glu358Gly) | dbSNP gnomAD v4 |
| X | g.153869838T>G | CA415130589 | L1CAM | c.1088A>C (p.Glu363Ala) c.1073A>C (p.Glu358Ala) | |
| X | g.153869838T= | CA2466506935 | L1CAM | c.1088A= (p.Glu363=) c.1073A= (p.Glu358=) | |
| X | g.153869839C>A | CA415130594 | L1CAM | c.1087G>T (p.Glu363Ter) c.1072G>T (p.Glu358Ter) | |
| X | g.153869839C>G | CA415130601 | L1CAM | c.1087G>C (p.Glu363Gln) c.1072G>C (p.Glu358Gln) | |
| X | g.153869839C>T | CA415130600 | L1CAM | c.1087G>A (p.Glu363Lys) c.1072G>A (p.Glu358Lys) | |
| X | g.153869840T>A | CA519343932 | L1CAM | c.1086A>T (p.Pro362=) c.1071A>T (p.Pro357=) | |
| X | g.153869840T>C | CA519343933 | L1CAM | c.1086A>G (p.Pro362=) c.1071A>G (p.Pro357=) | |
| X | g.153869840T>G | CA519343934 | L1CAM | c.1086A>C (p.Pro362=) c.1071A>C (p.Pro357=) | |
| X | g.153869841G>A | CA415130602 | L1CAM | c.1085C>T (p.Pro362Leu) c.1070C>T (p.Pro357Leu) | |
| X | g.153869841G>C | CA415130603 | L1CAM | c.1085C>G (p.Pro362Arg) c.1070C>G (p.Pro357Arg) | |
| X | g.153869841G>T | CA415130604 | L1CAM | c.1085C>A (p.Pro362Gln) c.1070C>A (p.Pro357Gln) | |
| X | g.153869842G>A | CA415130605 | L1CAM | c.1084C>T (p.Pro362Ser) c.1069C>T (p.Pro357Ser) | |
| X | g.153869842G>C | CA415130606 | L1CAM | c.1084C>G (p.Pro362Ala) c.1069C>G (p.Pro357Ala) |