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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113164024G= , CM000672.2:g.113164024G= | GRCh38 |
| NC_000010.10:g.114923783G= , CM000672.1:g.114923783G= | GRCh37 |
| NC_000010.9:g.114913773G= | NCBI36 |
| NG_012631.1:g.218775G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000277945.12:c.1323-1531G= | ENSP00000277945.8:n.1323-1531G= | |
| ENST00000349937.8:c.*19-1531G= | ENSP00000298692.6:n.*19-1531G= | |
| ENST00000355995.9:c.1443-1531G= MANE Select | ENSP00000348274.4:n.1443-1531G= | |
| ENST00000369389.7:c.*19-1531G= | ENSP00000358396.3:n.*19-1531G= | |
| ENST00000704414.1:c.1301-1531G= | ENSP00000515891.1:n.1301-1531G= | |
| ENST00000704415.1:n.915-1531G= | ||
| ENST00000704420.1:c.*19-1531G= | ENSP00000515894.1:n.*19-1531G= | |
| ENST00000704421.1:n.840-1531G= | ||
| ENST00000704422.1:c.895-1531G= | ENSP00000515895.1:n.895-1531G= | |
| ENST00000352065.10:c.*19-1531G= | ENSP00000344823.5:n.*19-1531G= | |
| ENST00000355717.9:c.1391-1531G= | ENSP00000347949.4:n.1391-1531G= | |
| ENST00000369395.6:c.*19-1531G= | ENSP00000358402.2:n.*19-1531G= | |
| ENST00000545257.6:c.*31-1531G= | ENSP00000440547.2:n.*31-1531G= | |
| ENST00000627217.3:c.1392-1531G= | ENSP00000486891.1:n.1392-1531G= | |
| ENST00000277945.11:c.543-1531G= | ENSP00000277945.7:n.543-1531G= | |
| ENST00000352065.9:c.*19-1531G= | ENSP00000344823.5:n.*19-1531G= | |
| ENST00000355717.8:c.1391-1531G= | ENSP00000347949.4:n.1391-1531G= | |
| ENST00000355995.8:c.1443-1531G= | ENSP00000348274.4:n.1443-1531G= | |
| ENST00000369386.5:c.*31-1531G= | ENSP00000358393.1:n.*31-1531G= | |
| ENST00000369389.5:c.452-1531G= | ENSP00000358396.1:n.452-1531G= | |
| ENST00000369397.8:c.1374-1531G= | ENSP00000358404.4:n.1374-1531G= | |
| ENST00000466338.5:n.272-1531G= | ||
| ENST00000470254.1:c.383-1531G= | ENSP00000435694.1:n.383-1531G= | |
| ENST00000471569.1:n.298-1531G= | ||
| ENST00000476887.1:n.231-1531G= | ||
| ENST00000480888.1:n.77-1832G= | ||
| ENST00000494353.1:n.374-1531G= | ||
| ENST00000534894.5:c.1148-1531G= | ENSP00000443626.2:n.1148-1531G= | |
| ENST00000536810.5:c.1323-1531G= | ENSP00000446238.2:n.1323-1531G= | |
| ENST00000538897.5:c.1370-1531G= | ENSP00000446172.1:n.1370-1531G= | |
| ENST00000542695.5:c.1188-1531G= | ENSP00000443883.2:n.1188-1531G= | |
| ENST00000543371.5:c.1407-1531G= | ENSP00000444972.2:n.1407-1531G= | |
| ENST00000545257.5:c.*31-1531G= | ENSP00000440547.2:n.*31-1531G= | |
| ENST00000627217.2:c.1392-1531G= | ENSP00000486891.1:n.1392-1531G= | |
| ENST00000629706.2:c.1338-1531G= | ENSP00000487507.1:n.1338-1531G= | |
| NM_001146274.1:c.1392-1531G= | NP_001139746.1:n.1392-1531G= | |
| NM_001146283.1:c.1391-1531G= | NP_001139755.1:n.1391-1531G= | |
| NM_001146284.1:c.1289-1531G= | NP_001139756.1:n.1289-1531G= | |
| NM_001146285.1:c.1323-1531G= | NP_001139757.1:n.1323-1531G= | |
| NM_001146286.1:c.1250-1531G= | NP_001139758.1:n.1250-1531G= | |
| NM_001198525.1:c.*31-1531G= | NP_001185454.1:n.*31-1531G= | |
| NM_001198526.1:c.1323-1531G= | NP_001185455.1:n.1323-1531G= | |
| NM_001198527.1:c.*19-1531G= | NP_001185456.1:n.*19-1531G= | |
| NM_001198528.1:c.*19-1531G= | NP_001185457.1:n.*19-1531G= | |
| NM_001198529.1:c.1301-1531G= | NP_001185458.1:n.1301-1531G= | |
| NM_001198530.1:c.1148-1531G= | NP_001185459.1:n.1148-1531G= | |
| NM_001198531.1:c.1319-1531G= | NP_001185460.1:n.1319-1531G= | |
| NM_030756.4:c.1374-1531G= | NP_110383.2:n.1374-1531G= | |
| XM_005270071.1:c.1602-1531G= | XP_005270128.1:n.1602-1531G= | |
| XM_005270073.1:c.1599-1531G= | XP_005270130.1:n.1599-1531G= | |
| XM_005270074.1:c.1590-1531G= | XP_005270131.1:n.1590-1531G= | |
| XM_005270075.1:c.1587-1531G= | XP_005270132.1:n.1587-1531G= | |
| XM_005270077.1:c.1551-1531G= | XP_005270134.1:n.1551-1531G= | |
| XM_005270078.1:c.1551-1531G= | XP_005270135.1:n.1551-1531G= | |
| XM_005270079.1:c.1536-1531G= | XP_005270136.1:n.1536-1531G= | |
| XM_005270080.1:c.1533-1531G= | XP_005270137.1:n.1533-1531G= | |
| XM_005270082.1:c.1458-1531G= | XP_005270139.1:n.1458-1531G= | |
| XM_005270083.1:c.1446-1531G= | XP_005270140.1:n.1446-1531G= | |
| XM_005270084.1:c.1443-1531G= | XP_005270141.1:n.1443-1531G= | |
| XM_005270085.1:c.1407-1531G= | XP_005270142.1:n.1407-1531G= | |
| XM_005270086.1:c.1389-1531G= | XP_005270143.1:n.1389-1531G= | |
| XM_005270088.1:c.1362-1531G= | XP_005270145.1:n.1362-1531G= | |
| XM_005270089.1:c.1338-1531G= | XP_005270146.1:n.1338-1531G= | |
| XM_005270091.2:c.*31-1531G= | XP_005270148.1:n.*31-1531G= | |
| XM_005270093.1:c.1529-1531G= | XP_005270150.1:n.1529-1531G= | |
| XM_005270094.1:c.1526-1531G= | XP_005270151.1:n.1526-1531G= | |
| XM_005270095.1:c.1478-1531G= | XP_005270152.1:n.1478-1531G= | |
| XM_005270096.1:c.1370-1531G= | XP_005270153.1:n.1370-1531G= | |
| XM_005270100.1:c.1334-1531G= | XP_005270157.1:n.1334-1531G= | |
| XM_005270101.1:c.1316-1531G= | XP_005270158.1:n.1316-1531G= | |
| XM_005270102.1:c.1307-1531G= | XP_005270159.1:n.1307-1531G= | |
| XM_005270103.1:c.1265-1531G= | XP_005270160.1:n.1265-1531G= | |
| XM_005270104.1:c.1238-1531G= | XP_005270161.1:n.1238-1531G= | |
| XM_006717956.2:c.1143-1531G= | XP_006718019.1:n.1143-1531G= | |
| XM_011540109.1:c.1602-1531G= | XP_011538411.1:n.1602-1531G= | |
| XM_011540110.1:c.1506-1531G= | XP_011538412.1:n.1506-1531G= | |
| XM_011540111.1:c.1374-1531G= | XP_011538413.1:n.1374-1531G= | |
| XM_011540112.1:c.1602-182G= | XP_011538414.1:n.1602-182G= | |
| XM_011540113.1:c.*31-182G= | XP_011538415.1:n.*31-182G= | |
| XM_011540115.1:c.*19-1531G= | XP_011538417.1:n.*19-1531G= | |
| XM_011540116.1:c.*31-1531G= | XP_011538418.1:n.*31-1531G= | |
| XM_011540119.1:c.1478-182G= | XP_011538421.1:n.1478-182G= | |
| NM_001349870.1:c.*19-1531G= | NP_001336799.1:n.*19-1531G= | |
| NM_001349871.1:c.*19-1531G= | NP_001336800.1:n.*19-1531G= | |
| NM_001363501.1:c.1370-1531G= | NP_001350430.1:n.1370-1531G= | |
| XM_005270071.2:c.1602-1531G= | XP_005270128.1:n.1602-1531G= | |
| XM_005270075.2:c.1587-1531G= | XP_005270132.1:n.1587-1531G= | |
| XM_005270077.2:c.1551-1531G= | XP_005270134.1:n.1551-1531G= | |
| XM_005270078.2:c.1551-1531G= | XP_005270135.1:n.1551-1531G= | |
| XM_005270079.2:c.1536-1531G= | XP_005270136.1:n.1536-1531G= | |
| XM_005270080.2:c.1533-1531G= | XP_005270137.1:n.1533-1531G= | |
| XM_005270084.2:c.1443-1531G= | XP_005270141.1:n.1443-1531G= | |
| XM_005270085.2:c.1407-1531G= | XP_005270142.1:n.1407-1531G= | |
| XM_005270086.2:c.1389-1531G= | XP_005270143.1:n.1389-1531G= | |
| XM_005270088.2:c.1362-1531G= | XP_005270145.1:n.1362-1531G= | |
| XM_005270089.2:c.1338-1531G= | XP_005270146.1:n.1338-1531G= | |
| XM_005270091.3:c.*31-1531G= | XP_005270148.1:n.*31-1531G= | |
| XM_005270093.3:c.1529-1531G= | XP_005270150.1:n.1529-1531G= | |
| XM_005270094.3:c.1526-1531G= | XP_005270151.1:n.1526-1531G= | |
| XM_005270095.2:c.1478-1531G= | XP_005270152.1:n.1478-1531G= | |
| XM_005270100.2:c.1334-1531G= | XP_005270157.1:n.1334-1531G= | |
| XM_005270101.3:c.1316-1531G= | XP_005270158.1:n.1316-1531G= | |
| XM_005270102.2:c.1307-1531G= | XP_005270159.1:n.1307-1531G= | |
| XM_005270103.2:c.1265-1531G= | XP_005270160.1:n.1265-1531G= | |
| XM_005270104.2:c.1238-1531G= | XP_005270161.1:n.1238-1531G= | |
| XM_011540109.2:c.1602-1531G= | XP_011538411.1:n.1602-1531G= | |
| XM_011540110.2:c.1506-1531G= | XP_011538412.1:n.1506-1531G= | |
| XM_011540111.2:c.1374-1531G= | XP_011538413.1:n.1374-1531G= | |
| XM_011540116.2:c.*31-1531G= | XP_011538418.1:n.*31-1531G= | |
| XM_017016584.2:c.1599-1531G= | XP_016872073.1:n.1599-1531G= | |
| XM_017016585.2:c.1590-1531G= | XP_016872074.1:n.1590-1531G= | |
| XM_017016586.2:c.1587-1531G= | XP_016872075.1:n.1587-1531G= | |
| XM_017016587.2:c.1575-1531G= | XP_016872076.1:n.1575-1531G= | |
| XM_017016588.2:c.1533-1531G= | XP_016872077.1:n.1533-1531G= | |
| XM_017016589.2:c.1482-1534G= | XP_016872078.1:n.1482-1534G= | |
| XM_017016590.2:c.1458-1531G= | XP_016872079.1:n.1458-1531G= | |
| XM_017016591.2:c.1446-1531G= | XP_016872080.1:n.1446-1531G= | |
| XM_017016592.2:c.1443-1531G= | XP_016872081.1:n.1443-1531G= | |
| XM_017016593.2:c.1392-1531G= | XP_016872082.1:n.1392-1531G= | |
| XM_017016594.2:c.1389-1531G= | XP_016872083.1:n.1389-1531G= | |
| XM_017016595.2:c.1463-1531G= | XP_016872084.1:n.1463-1531G= | |
| XM_017016596.2:c.1358-1531G= | XP_016872085.1:n.1358-1531G= | |
| XM_024448150.1:c.1515-1531G= | XP_024303918.1:n.1515-1531G= | |
| NM_001146274.2:c.1392-1531G= | NP_001139746.1:n.1392-1531G= | |
| NM_001367943.1:c.1443-1531G= MANE Select | NP_001354872.1:n.1443-1531G= | |
| NM_001146283.2:c.1391-1531G= | NP_001139755.1:n.1391-1531G= | |
| NM_001146284.2:c.1289-1531G= | NP_001139756.1:n.1289-1531G= | |
| NM_001146286.2:c.1250-1531G= | NP_001139758.1:n.1250-1531G= | |
| NM_001198525.2:c.*31-1531G= | NP_001185454.1:n.*31-1531G= | |
| NM_001198526.2:c.1323-1531G= | NP_001185455.1:n.1323-1531G= | |
| NM_001198527.2:c.*19-1531G= | NP_001185456.1:n.*19-1531G= | |
| NM_001198528.2:c.*19-1531G= | NP_001185457.1:n.*19-1531G= | |
| NM_001198529.2:c.1301-1531G= | NP_001185458.1:n.1301-1531G= | |
| NM_001198531.2:c.1319-1531G= | NP_001185460.1:n.1319-1531G= | |
| NM_001349870.2:c.*19-1531G= | NP_001336799.1:n.*19-1531G= | |
| NM_030756.5:c.1374-1531G= | NP_110383.2:n.1374-1531G= | |
| NM_001146285.2:c.1323-1531G= | NP_001139757.1:n.1323-1531G= | |
| NM_001198530.2:c.1148-1531G= | NP_001185459.1:n.1148-1531G= | |
| NM_001363501.2:c.1370-1531G= | NP_001350430.1:n.1370-1531G= |