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_000003.12:g.9689040C= , CM000665.2:g.9689040C= | GRCh38 |
| NC_000003.11:g.9730724C= , CM000665.1:g.9730724C= | GRCh37 |
| NC_000003.10:g.9705724C= | NCBI36 |
| NG_017068.1:g.44608C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296003.9:c.1391C= MANE Select | ENSP00000296003.5:p.Ala464= | |
| ENST00000296003.8:c.1391C= | ENSP00000296003.4:p.Ala464= | |
| ENST00000351233.9:c.1391C= | ENSP00000334070.7:p.Ala464= | |
| ENST00000353332.9:c.1391C= | ENSP00000323462.8:p.Ala464= | |
| ENST00000414996.1:c.*748C= | ENSP00000392935.1:n.*748C= | |
| ENST00000420925.5:c.653C= | ENSP00000401993.1:p.Ala218= | |
| ENST00000447144.5:c.*364C= | ENSP00000410761.1:n.*364C= | |
| ENST00000617504.4:c.1389C= | ENSP00000478236.1:p.Gly463= | |
| NM_001077525.2:c.1391C= | NP_001070993.1:p.Ala464= | |
| NM_001077526.2:c.1391C= | NP_001070994.1:p.Ala464= | |
| NM_022485.4:c.1391C= | NP_071930.2:p.Ala464= | |
| XM_005265400.1:c.1316C= | XP_005265457.1:p.Ala439= | |
| XM_011534012.1:c.1109C= | XP_011532314.1:p.Ala370= | |
| XM_011534013.1:c.1028C= | XP_011532315.1:p.Ala343= | |
| XR_245152.1:n.1515C= | ||
| XM_005265400.2:c.1316C= | XP_005265457.1:p.Ala439= | |
| XM_017007034.1:c.1460C= | XP_016862523.1:p.Ala487= | |
| XM_017007035.1:c.1385C= | XP_016862524.1:p.Ala462= | |
| XM_017007036.1:c.1460C= | XP_016862525.1:p.Ala487= | |
| XM_017007037.1:c.1385C= | XP_016862526.1:p.Ala462= | |
| XM_017007038.2:c.1316C= | XP_016862527.1:p.Ala439= | |
| XM_017007039.1:c.1460C= | XP_016862528.1:p.Ala487= | |
| XM_017007040.1:c.1385C= | XP_016862529.1:p.Ala462= | |
| XM_017007041.1:c.1034C= | XP_016862530.1:p.Ala345= | |
| XM_017007042.2:c.1316C= | XP_016862531.1:p.Ala439= | |
| XM_017007043.1:c.1109C= | XP_016862532.1:p.Ala370= | |
| XM_017007044.2:c.674C= | XP_016862533.1:p.Ala225= | |
| XM_017007045.2:c.749C= | XP_016862534.1:p.Ala250= | |
| XM_024453709.1:c.1028C= | XP_024309477.1:p.Ala343= | |
| XM_024453710.1:c.749C= | XP_024309478.1:p.Ala250= | |
| XR_001740231.1:n.1711C= | ||
| XR_001740232.1:n.1637C= | ||
| XR_001740233.2:n.1427C= | ||
| XR_245152.2:n.1502C= | ||
| NM_001077525.3:c.1391C= MANE Select | NP_001070993.1:p.Ala464= | |
| NM_001077526.3:c.1391C= | NP_001070994.1:p.Ala464= | |
| NM_022485.5:c.1391C= | NP_071930.2:p.Ala464= | |
| NM_001400518.1:c.1460C= | NP_001387447.1:p.Ala487= | |
| NM_001400519.1:c.1388C= | NP_001387448.1:p.Ala463= | |
| NM_001400520.1:c.1316C= | NP_001387449.1:p.Ala439= | |
| NM_001400521.1:c.1460C= | NP_001387450.1:p.Ala487= | |
| NM_001400522.1:c.1388C= | NP_001387451.1:p.Ala463= | |
| NM_001400523.1:c.1316C= | NP_001387452.1:p.Ala439= | |
| NM_001400524.1:c.1145C= | NP_001387453.1:p.Ala382= | |
| NM_001400525.1:c.1109C= | NP_001387454.1:p.Ala370= | |
| NM_001400526.1:c.1385C= | NP_001387455.1:p.Ala462= | |
| NM_001400527.1:c.1145C= | NP_001387456.1:p.Ala382= | |
| NM_001400528.1:c.1316C= | NP_001387457.1:p.Ala439= | |
| NM_001400529.1:c.1109C= | NP_001387458.1:p.Ala370= | |
| NM_001400530.1:c.1145C= | NP_001387459.1:p.Ala382= | |
| NM_001400531.1:c.1142C= | NP_001387460.1:p.Ala381= | |
| NM_001400532.1:c.1109C= | NP_001387461.1:p.Ala370= | |
| NM_001400533.1:c.749C= | NP_001387462.1:p.Ala250= | |
| NM_001400534.1:c.749C= | NP_001387463.1:p.Ala250= | |
| NM_001400535.1:c.749C= | NP_001387464.1:p.Ala250= | |
| NM_001400536.1:c.1070C= | NP_001387465.1:p.Ala357= | |
| NM_001400537.1:c.1034C= | NP_001387466.1:p.Ala345= | |
| NM_001400538.1:c.674C= | NP_001387467.1:p.Ala225= | |
| NM_001400539.1:c.749C= | NP_001387468.1:p.Ala250= | |
| NM_001400540.1:c.749C= | NP_001387469.1:p.Ala250= | |
| NM_001400541.1:c.749C= | NP_001387470.1:p.Ala250= | |
| NM_001400542.1:c.749C= | NP_001387471.1:p.Ala250= | |
| NM_001400543.1:c.749C= | NP_001387472.1:p.Ala250= | |
| NM_001400544.1:c.530C= | NP_001387473.1:p.Ala177= | |
| NM_001400545.1:c.749C= | NP_001387474.1:p.Ala250= | |
| NM_001400546.1:c.749C= | NP_001387475.1:p.Ala250= | |
| NM_001400547.1:c.530C= | NP_001387476.1:p.Ala177= | |
| NM_001400548.1:c.530C= | NP_001387477.1:p.Ala177= | |
| NM_001400549.1:c.674C= | NP_001387478.1:p.Ala225= | |
| NM_001400550.1:c.530C= | NP_001387479.1:p.Ala177= | |
| NR_174503.1:n.1395C= | ||
| NR_174504.1:n.1470C= | ||
| NR_174505.1:n.1078C= | ||
| NR_174506.1:n.1258C= | ||
| NR_174507.1:n.1324C= | ||
| NR_174508.1:n.1324C= | ||
| NR_174509.1:n.1224C= | ||
| NR_174510.1:n.1321C= | ||
| NR_174511.1:n.1394C= |