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.85879000T>A | CA413787558 | CHM | c.1574A>T (p.Gln525Leu) n.127-15906A>T c.1511A>T (p.Gln504Leu) c.1130A>T (p.Gln377Leu) | |
| X | g.85879000T>C | CA413787559 | CHM | c.1574A>G (p.Gln525Arg) n.127-15906A>G c.1511A>G (p.Gln504Arg) c.1130A>G (p.Gln377Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.85879000T>G | CA413787560 | CHM | c.1574A>C (p.Gln525Pro) n.127-15906A>C c.1511A>C (p.Gln504Pro) c.1130A>C (p.Gln377Pro) | |
| X | g.85879000T= | CA2442451027 | CHM | c.1574A= (p.Gln525=) n.127-15906A= c.1511A= (p.Gln504=) c.1130A= (p.Gln377=) | |
| X | g.85879001G>A | CA413787561 | CHM | c.1573C>T (p.Gln525Ter) n.127-15907C>T c.1510C>T (p.Gln504Ter) c.1129C>T (p.Gln377Ter) | ClinVar dbSNP |
| X | g.85879001G>C | CA413787563 | CHM | c.1573C>G (p.Gln525Glu) n.127-15907C>G c.1510C>G (p.Gln504Glu) c.1129C>G (p.Gln377Glu) | |
| X | g.85879001G= | CA2442451028 | CHM | c.1573C= (p.Gln525=) n.127-15907C= c.1510C= (p.Gln504=) c.1129C= (p.Gln377=) | |
| X | g.85879001G>T | CA413787562 | CHM | c.1573C>A (p.Gln525Lys) n.127-15907C>A c.1510C>A (p.Gln504Lys) c.1129C>A (p.Gln377Lys) | |
| X | g.85879002C>A | CA517491267 | CHM | c.1572G>T (p.Val524=) n.127-15908G>T c.1509G>T (p.Val503=) c.1128G>T (p.Val376=) | |
| X | g.85879002C>G | CA517491268 | CHM | c.1572G>C (p.Val524=) n.127-15908G>C c.1509G>C (p.Val503=) c.1128G>C (p.Val376=) | |
| X | g.85879002C>T | CA517491269 | CHM | c.1572G>A (p.Val524=) n.127-15908G>A c.1509G>A (p.Val503=) c.1128G>A (p.Val376=) | ClinVar gnomAD v4 |
| X | g.85879003A>C | CA413787564 | CHM | c.1571T>G (p.Val524Gly) n.127-15909T>G c.1508T>G (p.Val503Gly) c.1127T>G (p.Val376Gly) | |
| X | g.85879003A>G | CA413787565 | CHM | c.1571T>C (p.Val524Ala) n.127-15909T>C c.1508T>C (p.Val503Ala) c.1127T>C (p.Val376Ala) | gnomAD v4 |
| X | g.85879003A>T | CA413787566 | CHM | c.1571T>A (p.Val524Glu) n.127-15909T>A c.1508T>A (p.Val503Glu) c.1127T>A (p.Val376Glu) | |
| X | g.85879004C>A | CA413787567 | CHM | c.1570G>T (p.Val524Leu) n.127-15910G>T c.1507G>T (p.Val503Leu) c.1126G>T (p.Val376Leu) | |
| X | g.85879004C>G | CA413787568 | CHM | c.1570G>C (p.Val524Leu) n.127-15910G>C c.1507G>C (p.Val503Leu) c.1126G>C (p.Val376Leu) | |
| X | g.85879004C>T | CA413787569 | CHM | c.1570G>A (p.Val524Met) n.127-15910G>A c.1507G>A (p.Val503Met) c.1126G>A (p.Val376Met) | |
| X | g.85879005A>C | CA517491277 | CHM | c.1569T>G (p.Val523=) n.127-15911T>G c.1506T>G (p.Val502=) c.1125T>G (p.Val375=) | |
| X | g.85879005A>G | CA517491275 | CHM | c.1569T>C (p.Val523=) n.127-15911T>C c.1506T>C (p.Val502=) c.1125T>C (p.Val375=) | |
| X | g.85879005A>T | CA517491272 | CHM | c.1569T>A (p.Val523=) n.127-15911T>A c.1506T>A (p.Val502=) c.1125T>A (p.Val375=) | |
| X | g.85879006del | CA2499226898 | CHM | c.1569del (p.Val524CysfsTer13) n.127-15911del c.1506del (p.Val503CysfsTer13) c.1125del (p.Val376CysfsTer13) | ClinVar dbSNP |
| X | g.85879006A= | CA2442451029 | CHM | c.1568T= (p.Val523=) n.127-15912T= c.1505T= (p.Val502=) c.1124T= (p.Val375=) | |
| X | g.85879006A>C | CA413787570 | CHM | c.1568T>G (p.Val523Gly) n.127-15912T>G c.1505T>G (p.Val502Gly) c.1124T>G (p.Val375Gly) | |
| X | g.85879006A>G | CA413787571 | CHM | c.1568T>C (p.Val523Ala) n.127-15912T>C c.1505T>C (p.Val502Ala) c.1124T>C (p.Val375Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.85879006A>T | CA413787572 | CHM | c.1568T>A (p.Val523Asp) n.127-15912T>A c.1505T>A (p.Val502Asp) c.1124T>A (p.Val375Asp) | |
| X | g.85879007C>A | CA413787575 | CHM | c.1567G>T (p.Val523Phe) n.127-15913G>T c.1504G>T (p.Val502Phe) c.1123G>T (p.Val375Phe) | |
| X | g.85879007C>G | CA413787574 | CHM | c.1567G>C (p.Val523Leu) n.127-15913G>C c.1504G>C (p.Val502Leu) c.1123G>C (p.Val375Leu) | |
| X | g.85879007C>T | CA413787573 | CHM | c.1567G>A (p.Val523Ile) n.127-15913G>A c.1504G>A (p.Val502Ile) c.1123G>A (p.Val375Ile) | |
| X | g.85879008T>A | CA517491285 | CHM | c.1566A>T (p.Ser522=) n.127-15914A>T c.1503A>T (p.Ser501=) c.1122A>T (p.Ser374=) | gnomAD v4 |
| X | g.85879008T>C | CA517491283 | CHM | c.1566A>G (p.Ser522=) n.127-15914A>G c.1503A>G (p.Ser501=) c.1122A>G (p.Ser374=) | ClinVar gnomAD v4 |
| X | g.85879008T>G | CA517491281 | CHM | c.1566A>C (p.Ser522=) n.127-15914A>C c.1503A>C (p.Ser501=) c.1122A>C (p.Ser374=) | ClinVar dbSNP gnomAD v4 |
| X | g.85879009G>A | CA413787576 | CHM | c.1565C>T (p.Ser522Leu) n.127-15915C>T c.1502C>T (p.Ser501Leu) c.1121C>T (p.Ser374Leu) | ClinVar |
| X | g.85879009G>C | CA413787577 | CHM | c.1565C>G (p.Ser522Ter) n.127-15915C>G c.1502C>G (p.Ser501Ter) c.1121C>G (p.Ser374Ter) | ClinVar dbSNP |
| X | g.85879009G>T | CA413787578 | CHM | c.1565C>A (p.Ser522Ter) n.127-15915C>A c.1502C>A (p.Ser501Ter) c.1121C>A (p.Ser374Ter) | ClinVar dbSNP gnomAD v4 |
| X | g.85879010A>C | CA413787579 | CHM | c.1564T>G (p.Ser522Ala) n.127-15916T>G c.1501T>G (p.Ser501Ala) c.1120T>G (p.Ser374Ala) | |
| X | g.85879010A>G | CA413787580 | CHM | c.1564T>C (p.Ser522Pro) n.127-15916T>C c.1501T>C (p.Ser501Pro) c.1120T>C (p.Ser374Pro) | |
| X | g.85879010A>T | CA413787581 | CHM | c.1564T>A (p.Ser522Thr) n.127-15916T>A c.1501T>A (p.Ser501Thr) c.1120T>A (p.Ser374Thr) | |
| X | g.85879011T>A | CA413787582 | CHM | c.1563A>T (p.Glu521Asp) n.127-15917A>T c.1500A>T (p.Glu500Asp) c.1119A>T (p.Glu373Asp) | |
| X | g.85879011T>C | CA517491291 | CHM | c.1563A>G (p.Glu521=) n.127-15917A>G c.1500A>G (p.Glu500=) c.1119A>G (p.Glu373=) | |
| X | g.85879011T>G | CA413787583 | CHM | c.1563A>C (p.Glu521Asp) n.127-15917A>C c.1500A>C (p.Glu500Asp) c.1119A>C (p.Glu373Asp) | |
| X | g.85879012T>A | CA413787584 | CHM | c.1562A>T (p.Glu521Val) n.127-15918A>T c.1499A>T (p.Glu500Val) c.1118A>T (p.Glu373Val) | |
| X | g.85879012T>C | CA413787585 | CHM | c.1562A>G (p.Glu521Gly) n.127-15918A>G c.1499A>G (p.Glu500Gly) c.1118A>G (p.Glu373Gly) | |
| X | g.85879012T>G | CA413787586 | CHM | c.1562A>C (p.Glu521Ala) n.127-15918A>C c.1499A>C (p.Glu500Ala) c.1118A>C (p.Glu373Ala) | |
| X | g.85879013C>A | CA413787589 | CHM | c.1561G>T (p.Glu521Ter) n.127-15919G>T c.1498G>T (p.Glu500Ter) c.1117G>T (p.Glu373Ter) | |
| X | g.85879013C= | CA2442451030 | CHM | c.1561G= (p.Glu521=) n.127-15919G= c.1498G= (p.Glu500=) c.1117G= (p.Glu373=) | |
| X | g.85879013C>G | CA413787588 | CHM | c.1561G>C (p.Glu521Gln) n.127-15919G>C c.1498G>C (p.Glu500Gln) c.1117G>C (p.Glu373Gln) | dbSNP |
| X | g.85879013C>T | CA413787587 | CHM | c.1561G>A (p.Glu521Lys) n.127-15919G>A c.1498G>A (p.Glu500Lys) c.1117G>A (p.Glu373Lys) | |
| X | g.85879014T>A | CA413787590 | CHM | c.1560A>T (p.Leu520Phe) n.127-15920A>T c.1497A>T (p.Leu499Phe) c.1116A>T (p.Leu372Phe) | |
| X | g.85879014T>C | CA517491296 | CHM | c.1560A>G (p.Leu520=) n.127-15920A>G c.1497A>G (p.Leu499=) c.1116A>G (p.Leu372=) | gnomAD v4 |
| X | g.85879014T>G | CA413787591 | CHM | c.1560A>C (p.Leu520Phe) n.127-15920A>C c.1497A>C (p.Leu499Phe) c.1116A>C (p.Leu372Phe) |