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 |
|---|---|---|---|---|---|
| 3 | g.81577981_81578006del | CA2580070446 | GBE1 | c.1538_1563del (p.Ile513AsnfsTer20) c.1415_1440del (p.Ile472AsnfsTer20) | ClinVar |
| 3 | g.81577981T>A | CA353684671 | GBE1 | c.1562A>T (p.Lys521Ile) c.1439A>T (p.Lys480Ile) | |
| 3 | g.81577981T>C | CA353684672 | GBE1 | c.1562A>G (p.Lys521Arg) c.1439A>G (p.Lys480Arg) | |
| 3 | g.81577981T>G | CA353684673 | GBE1 | c.1562A>C (p.Lys521Thr) c.1439A>C (p.Lys480Thr) | |
| 3 | g.81577982T>A | CA2499627 | GBE1 | c.1561A>T (p.Lys521Ter) c.1438A>T (p.Lys480Ter) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.81577982T>C | CA353684674 | GBE1 | c.1561A>G (p.Lys521Glu) c.1438A>G (p.Lys480Glu) | |
| 3 | g.81577982T>G | CA353684675 | GBE1 | c.1561A>C (p.Lys521Gln) c.1438A>C (p.Lys480Gln) | |
| 3 | g.81577982T= | CA1378698142 | GBE1 | c.1561A= (p.Lys521=) c.1438A= (p.Lys480=) | |
| 3 | g.81577983A>C | CA353684676 | GBE1 | c.1560T>G (p.His520Gln) c.1437T>G (p.His479Gln) | |
| 3 | g.81577983A>G | CA434492362 | GBE1 | c.1560T>C (p.His520=) c.1437T>C (p.His479=) | |
| 3 | g.81577983A>T | CA353684677 | GBE1 | c.1560T>A (p.His520Gln) c.1437T>A (p.His479Gln) | |
| 3 | g.81577984T>A | CA353684678 | GBE1 | c.1559A>T (p.His520Leu) c.1436A>T (p.His479Leu) | |
| 3 | g.81577984T>C | CA353684679 | GBE1 | c.1559A>G (p.His520Arg) c.1436A>G (p.His479Arg) | gnomAD v4 |
| 3 | g.81577984T>G | CA353684680 | GBE1 | c.1559A>C (p.His520Pro) c.1436A>C (p.His479Pro) | |
| 3 | g.81577985G>A | CA353684683 | GBE1 | c.1558C>T (p.His520Tyr) c.1435C>T (p.His479Tyr) | |
| 3 | g.81577985G>C | CA353684681 | GBE1 | c.1558C>G (p.His520Asp) c.1435C>G (p.His479Asp) | |
| 3 | g.81577985G>T | CA353684682 | GBE1 | c.1558C>A (p.His520Asn) c.1435C>A (p.His479Asn) | |
| 3 | g.81577986A>C | CA434492371 | GBE1 | c.1557T>G (p.Leu519=) c.1434T>G (p.Leu478=) | |
| 3 | g.81577986A>G | CA434492375 | GBE1 | c.1557T>C (p.Leu519=) c.1434T>C (p.Leu478=) | |
| 3 | g.81577986A>T | CA434492373 | GBE1 | c.1557T>A (p.Leu519=) c.1434T>A (p.Leu478=) | |
| 3 | g.81577987A= | CA1378698143 | GBE1 | c.1556T= (p.Leu519=) c.1433T= (p.Leu478=) | |
| 3 | g.81577987A>C | CA353684684 | GBE1 | c.1556T>G (p.Leu519Arg) c.1433T>G (p.Leu478Arg) | dbSNP |
| 3 | g.81577987A>G | CA353684685 | GBE1 | c.1556T>C (p.Leu519Pro) c.1433T>C (p.Leu478Pro) | dbSNP |
| 3 | g.81577987A>T | CA353684686 | GBE1 | c.1556T>A (p.Leu519His) c.1433T>A (p.Leu478His) | |
| 3 | g.81577988G>A | CA353684687 | GBE1 | c.1555C>T (p.Leu519Phe) c.1432C>T (p.Leu478Phe) | |
| 3 | g.81577988G>C | CA353684688 | GBE1 | c.1555C>G (p.Leu519Val) c.1432C>G (p.Leu478Val) | |
| 3 | g.81577988G>T | CA353684689 | GBE1 | c.1555C>A (p.Leu519Ile) c.1432C>A (p.Leu478Ile) | |
| 3 | g.81577989C>A | CA353684690 | GBE1 | c.1554G>T (p.Gln518His) c.1431G>T (p.Gln477His) | |
| 3 | g.81577989C>G | CA353684691 | GBE1 | c.1554G>C (p.Gln518His) c.1431G>C (p.Gln477His) | |
| 3 | g.81577989C>T | CA434492386 | GBE1 | c.1554G>A (p.Gln518=) c.1431G>A (p.Gln477=) | ClinVar gnomAD v4 |
| 3 | g.81577990T>A | CA353684692 | GBE1 | c.1553A>T (p.Gln518Leu) c.1430A>T (p.Gln477Leu) | |
| 3 | g.81577990T>C | CA353684693 | GBE1 | c.1553A>G (p.Gln518Arg) c.1430A>G (p.Gln477Arg) | dbSNP |
| 3 | g.81577990T>G | CA353684694 | GBE1 | c.1553A>C (p.Gln518Pro) c.1430A>C (p.Gln477Pro) | |
| 3 | g.81577990T= | CA1378698144 | GBE1 | c.1553A= (p.Gln518=) c.1430A= (p.Gln477=) | |
| 3 | g.81577991G>A | CA353684695 | GBE1 | c.1552C>T (p.Gln518Ter) c.1429C>T (p.Gln477Ter) | |
| 3 | g.81577991G>C | CA353684697 | GBE1 | c.1552C>G (p.Gln518Glu) c.1429C>G (p.Gln477Glu) | |
| 3 | g.81577991G>T | CA353684696 | GBE1 | c.1552C>A (p.Gln518Lys) c.1429C>A (p.Gln477Lys) | |
| 3 | g.81577992T>A | CA434492396 | GBE1 | c.1551A>T (p.Ile517=) c.1428A>T (p.Ile476=) | |
| 3 | g.81577992T>C | CA353684698 | GBE1 | c.1551A>G (p.Ile517Met) c.1428A>G (p.Ile476Met) | |
| 3 | g.81577992T>G | CA434492399 | GBE1 | c.1551A>C (p.Ile517=) c.1428A>C (p.Ile476=) | |
| 3 | g.81577993A>C | CA353684701 | GBE1 | c.1550T>G (p.Ile517Arg) c.1427T>G (p.Ile476Arg) | |
| 3 | g.81577993A>G | CA353684699 | GBE1 | c.1550T>C (p.Ile517Thr) c.1427T>C (p.Ile476Thr) | |
| 3 | g.81577993A>T | CA353684700 | GBE1 | c.1550T>A (p.Ile517Lys) c.1427T>A (p.Ile476Lys) | |
| 3 | g.81577994T>A | CA353684702 | GBE1 | c.1549A>T (p.Ile517Leu) c.1426A>T (p.Ile476Leu) | |
| 3 | g.81577994T>C | CA353684703 | GBE1 | c.1549A>G (p.Ile517Val) c.1426A>G (p.Ile476Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81577994T>G | CA353684704 | GBE1 | c.1549A>C (p.Ile517Leu) c.1426A>C (p.Ile476Leu) | |
| 3 | g.81577994T= | CA1378698145 | GBE1 | c.1549A= (p.Ile517=) c.1426A= (p.Ile476=) | |
| 3 | g.81577995T>A | CA434492412 | GBE1 | c.1548A>T (p.Gly516=) c.1425A>T (p.Gly475=) | ClinVar gnomAD v4 |
| 3 | g.81577995T>C | CA434492408 | GBE1 | c.1548A>G (p.Gly516=) c.1425A>G (p.Gly475=) | |
| 3 | g.81577995T>G | CA434492410 | GBE1 | c.1548A>C (p.Gly516=) c.1425A>C (p.Gly475=) |