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.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) | |
| X | g.153869842G>T | CA415130608 | L1CAM | c.1084C>A (p.Pro362Thr) c.1069C>A (p.Pro357Thr) | gnomAD v4 |
| X | g.153869843T>A | CA415130611 | L1CAM | c.1083A>T (p.Gln361His) c.1068A>T (p.Gln356His) | ClinVar |
| X | g.153869843T>C | CA519343935 | L1CAM | c.1083A>G (p.Gln361=) c.1068A>G (p.Gln356=) | |
| X | g.153869843T>G | CA415130615 | L1CAM | c.1083A>C (p.Gln361His) c.1068A>C (p.Gln356His) | |
| X | g.153869844T>A | CA415130618 | L1CAM | c.1082A>T (p.Gln361Leu) c.1067A>T (p.Gln356Leu) | |
| X | g.153869844T>C | CA415130620 | L1CAM | c.1082A>G (p.Gln361Arg) c.1067A>G (p.Gln356Arg) | |
| X | g.153869844T>G | CA415130622 | L1CAM | c.1082A>C (p.Gln361Pro) c.1067A>C (p.Gln356Pro) | |
| X | g.153869845G>A | CA415130630 | L1CAM | c.1081C>T (p.Gln361Ter) c.1066C>T (p.Gln356Ter) | |
| X | g.153869845G>C | CA415130624 | L1CAM | c.1081C>G (p.Gln361Glu) c.1066C>G (p.Gln356Glu) | |
| X | g.153869845G>T | CA415130626 | L1CAM | c.1081C>A (p.Gln361Lys) c.1066C>A (p.Gln356Lys) | |
| X | g.153869846G>A | CA519343938 | L1CAM | c.1080C>T (p.Pro360=) c.1065C>T (p.Pro355=) | |
| X | g.153869846G>C | CA519343936 | L1CAM | c.1080C>G (p.Pro360=) c.1065C>G (p.Pro355=) | |
| X | g.153869846G>T | CA519343937 | L1CAM | c.1080C>A (p.Pro360=) c.1065C>A (p.Pro355=) | |
| X | g.153869847G>A | CA415130632 | L1CAM | c.1079C>T (p.Pro360Leu) c.1064C>T (p.Pro355Leu) | gnomAD v4 |
| X | g.153869847G>C | CA415130635 | L1CAM | c.1079C>G (p.Pro360Arg) c.1064C>G (p.Pro355Arg) | |
| X | g.153869847G>T | CA415130637 | L1CAM | c.1079C>A (p.Pro360His) c.1064C>A (p.Pro355His) | |
| X | g.153869848G>A | CA415130639 | L1CAM | c.1078C>T (p.Pro360Ser) c.1063C>T (p.Pro355Ser) | gnomAD v4 |
| X | g.153869848G>C | CA415130640 | L1CAM | c.1078C>G (p.Pro360Ala) c.1063C>G (p.Pro355Ala) | |
| X | g.153869848G>T | CA415130643 | L1CAM | c.1078C>A (p.Pro360Thr) c.1063C>A (p.Pro355Thr) | |
| X | g.153869849C>A | CA415130649 | L1CAM | c.1077G>T (p.Arg359Ser) c.1062G>T (p.Arg354Ser) | |
| X | g.153869849C>G | CA415130651 | L1CAM | c.1077G>C (p.Arg359Ser) c.1062G>C (p.Arg354Ser) | |
| X | g.153869849C>T | CA519343939 | L1CAM | c.1077G>A (p.Arg359=) c.1062G>A (p.Arg354=) | gnomAD v4 |
| X | g.153869850C>A | CA415130653 | L1CAM | c.1076G>T (p.Arg359Met) c.1061G>T (p.Arg354Met) | |
| X | g.153869850C>G | CA415130655 | L1CAM | c.1076G>C (p.Arg359Thr) c.1061G>C (p.Arg354Thr) | |
| X | g.153869850C>T | CA415130659 | L1CAM | c.1076G>A (p.Arg359Lys) c.1061G>A (p.Arg354Lys) | |
| X | g.153869851T>A | CA415130663 | L1CAM | c.1075A>T (p.Arg359Trp) c.1060A>T (p.Arg354Trp) | COSMIC |
| X | g.153869851T>C | CA415130665 | L1CAM | c.1075A>G (p.Arg359Gly) c.1060A>G (p.Arg354Gly) | gnomAD v4 |
| X | g.153869851T>G | CA519343940 | L1CAM | c.1075A>C (p.Arg359=) c.1060A>C (p.Arg354=) |