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_000002.12:g.127048596C>T , CM000664.2:g.127048596C>T | GRCh38 |
| NC_000002.11:g.127806172C>T , CM000664.1:g.127806172C>T | GRCh37 |
| NC_000002.10:g.127522642C>T | NCBI36 |
| NG_012042.1:g.63693G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352848.8:c.1295G>A | ENSP00000315284.4:p.Trp432Ter | |
| ENST00000316724.10:c.1712G>A MANE Select | ENSP00000316779.5:p.Trp571Ter | |
| ENST00000259238.8:c.1424G>A | ENSP00000259238.4:p.Trp475Ter | |
| ENST00000316724.9:c.1712G>A | ENSP00000316779.5:p.Trp571Ter | |
| ENST00000346226.7:c.1487G>A | ENSP00000315411.3:p.Trp496Ter | |
| ENST00000348750.8:c.1160G>A | ENSP00000259237.5:p.Trp387Ter | |
| ENST00000351659.7:c.1451G>A | ENSP00000315388.3:p.Trp484Ter | |
| ENST00000352848.7:c.1295G>A | ENSP00000315284.4:p.Trp432Ter | |
| ENST00000357970.7:c.1583G>A | ENSP00000350654.3:p.Trp528Ter | |
| ENST00000376113.6:c.1205G>A | ENSP00000365281.2:p.Trp402Ter | |
| ENST00000393040.7:c.1379G>A | ENSP00000376760.3:p.Trp460Ter | |
| ENST00000393041.7:c.1358G>A | ENSP00000376761.3:p.Trp453Ter | |
| ENST00000409400.1:c.1250G>A | ENSP00000386797.1:p.Trp417Ter | |
| ENST00000462958.5:n.4578G>A | ||
| NM_004305.3:c.1295G>A | NP_004296.1:p.Trp432Ter | |
| NM_139343.2:c.1712G>A | NP_647593.1:p.Trp571Ter | |
| NM_139344.2:c.1583G>A | NP_647594.1:p.Trp528Ter | |
| NM_139345.2:c.1451G>A | NP_647595.1:p.Trp484Ter | |
| NM_139346.2:c.1424G>A | NP_647596.1:p.Trp475Ter | |
| NM_139347.2:c.1487G>A | NP_647597.1:p.Trp496Ter | |
| NM_139348.2:c.1379G>A | NP_647598.1:p.Trp460Ter | |
| NM_139349.2:c.1358G>A | NP_647599.1:p.Trp453Ter | |
| NM_139350.2:c.1250G>A | NP_647600.1:p.Trp417Ter | |
| NM_139351.2:c.1160G>A | NP_647601.1:p.Trp387Ter | |
| XM_005263642.2:c.1757G>A | XP_005263699.1:p.Trp586Ter | |
| XM_005263643.2:c.1664G>A | XP_005263700.1:p.Trp555Ter | |
| XM_005263644.2:c.1619G>A | XP_005263701.1:p.Trp540Ter | |
| XM_005263645.1:c.1592G>A | XP_005263702.1:p.Trp531Ter | |
| XM_005263646.2:c.1343G>A | XP_005263703.1:p.Trp448Ter | |
| XM_005263647.2:c.1205G>A | XP_005263704.1:p.Trp402Ter | |
| XM_005263648.1:c.1088G>A | XP_005263705.1:p.Trp363Ter | |
| XM_006712425.2:c.1625G>A | XP_006712488.1:p.Trp542Ter | |
| XM_006712426.2:c.1625G>A | XP_006712489.1:p.Trp542Ter | |
| XM_006712427.1:c.1547G>A | XP_006712490.1:p.Trp516Ter | |
| XM_006712428.2:c.1517G>A | XP_006712491.1:p.Trp506Ter | |
| XM_006712429.2:c.1496G>A | XP_006712492.1:p.Trp499Ter | |
| XM_006712430.2:c.1472G>A | XP_006712493.1:p.Trp491Ter | |
| XM_006712431.2:c.1427G>A | XP_006712494.1:p.Trp476Ter | |
| XM_006712432.2:c.1388G>A | XP_006712495.1:p.Trp463Ter | |
| XM_006712433.2:c.1298G>A | XP_006712496.1:p.Trp433Ter | |
| XM_006712434.2:c.1253G>A | XP_006712497.1:p.Trp418Ter | |
| XM_011510975.1:c.1676G>A | XP_011509277.1:p.Trp559Ter | |
| NM_001320632.1:c.1205G>A | NP_001307561.1:p.Trp402Ter | |
| NM_001320633.1:c.1343G>A | NP_001307562.1:p.Trp448Ter | |
| NM_001320634.1:c.1088G>A | NP_001307563.1:p.Trp363Ter | |
| NM_001320640.1:c.1472G>A | NP_001307569.1:p.Trp491Ter | |
| NM_001320641.1:c.1619G>A | NP_001307570.1:p.Trp540Ter | |
| NM_001320642.1:c.1631G>A | NP_001307571.1:p.Trp544Ter | |
| XM_005263642.4:c.1757G>A | XP_005263699.1:p.Trp586Ter | |
| XM_005263643.4:c.1664G>A | XP_005263700.1:p.Trp555Ter | |
| XM_005263645.2:c.1592G>A | XP_005263702.1:p.Trp531Ter | |
| XM_006712425.4:c.1625G>A | XP_006712488.1:p.Trp542Ter | |
| XM_006712426.4:c.1625G>A | XP_006712489.1:p.Trp542Ter | |
| XM_006712427.2:c.1547G>A | XP_006712490.1:p.Trp516Ter | |
| XM_006712428.4:c.1517G>A | XP_006712491.1:p.Trp506Ter | |
| XM_006712429.4:c.1496G>A | XP_006712492.1:p.Trp499Ter | |
| XM_006712431.4:c.1427G>A | XP_006712494.1:p.Trp476Ter | |
| XM_006712432.4:c.1388G>A | XP_006712495.1:p.Trp463Ter | |
| XM_006712433.4:c.1298G>A | XP_006712496.1:p.Trp433Ter | |
| XM_006712434.4:c.1253G>A | XP_006712497.1:p.Trp418Ter | |
| XM_011510975.3:c.1676G>A | XP_011509277.1:p.Trp559Ter | |
| XM_017003819.1:c.1685G>A | XP_016859308.1:p.Trp562Ter | |
| XM_017003820.2:c.1487G>A | XP_016859309.1:p.Trp496Ter | |
| XM_017003821.2:c.1382G>A | XP_016859310.1:p.Trp461Ter | |
| XM_017003822.2:c.1289G>A | XP_016859311.1:p.Trp430Ter | |
| XM_017003823.1:c.1286G>A | XP_016859312.1:p.Trp429Ter | |
| XM_017003824.1:c.1217G>A | XP_016859313.1:p.Trp406Ter | |
| XM_017003825.1:c.1181G>A | XP_016859314.1:p.Trp394Ter | |
| XM_017003826.1:c.1178G>A | XP_016859315.1:p.Trp393Ter | |
| XM_017003827.2:c.1085G>A | XP_016859316.1:p.Trp362Ter | |
| XM_017003828.2:c.1040G>A | XP_016859317.1:p.Trp347Ter | |
| NM_139343.3:c.1712G>A MANE Select | NP_647593.1:p.Trp571Ter | |
| NM_001320632.2:c.1205G>A | NP_001307561.1:p.Trp402Ter | |
| NM_001320633.2:c.1343G>A | NP_001307562.1:p.Trp448Ter | |
| NM_001320640.2:c.1472G>A | NP_001307569.1:p.Trp491Ter | |
| NM_001320641.2:c.1619G>A | NP_001307570.1:p.Trp540Ter | |
| NM_004305.4:c.1295G>A | NP_004296.1:p.Trp432Ter | |
| NM_139344.3:c.1583G>A | NP_647594.1:p.Trp528Ter | |
| NM_139345.3:c.1451G>A | NP_647595.1:p.Trp484Ter | |
| NM_139346.3:c.1424G>A | NP_647596.1:p.Trp475Ter | |
| NM_139347.3:c.1487G>A | NP_647597.1:p.Trp496Ter | |
| NM_139348.3:c.1379G>A | NP_647598.1:p.Trp460Ter | |
| NM_139349.3:c.1358G>A | NP_647599.1:p.Trp453Ter | |
| NM_139350.3:c.1250G>A | NP_647600.1:p.Trp417Ter | |
| NM_139351.3:c.1160G>A | NP_647601.1:p.Trp387Ter |