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_000007.14:g.5987081A= , CM000669.2:g.5987081A= | GRCh38 |
| NC_000007.13:g.6026712A= , CM000669.1:g.6026712A= | GRCh37 |
| NC_000007.12:g.5993238A= | NCBI36 |
| NG_008466.1:g.27026T= , LRG_161:g.27026T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*1080T= | ENSP00000514615.2:n.*1080T= | |
| ENST00000699840.2:c.1681T= | ENSP00000514638.2:p.Phe561= | |
| ENST00000699930.2:c.1576T= | ENSP00000514695.2:p.Phe526= | |
| ENST00000406569.8:c.1678+6T= | ENSP00000514464.1:n.1678+6T= | |
| ENST00000644110.2:c.*1278T= | ENSP00000496392.2:n.*1278T= | |
| ENST00000699752.1:c.1528T= | ENSP00000514561.1:p.Phe510= | |
| ENST00000699753.1:c.*1105T= | ENSP00000514562.1:n.*1105T= | |
| ENST00000699754.1:c.1486T= | ENSP00000514563.1:p.Phe496= | |
| ENST00000699755.1:c.*1083T= | ENSP00000514564.1:n.*1083T= | |
| ENST00000699756.1:c.*1271T= | ENSP00000514565.1:n.*1271T= | |
| ENST00000699757.1:c.*941T= | ENSP00000514566.1:n.*941T= | |
| ENST00000699758.1:c.*941T= | ENSP00000514567.1:n.*941T= | |
| ENST00000699759.1:n.2538T= | ||
| ENST00000699760.1:c.1366T= | ENSP00000514568.1:p.Phe456= | |
| ENST00000699761.1:c.1279T= | ENSP00000514569.1:p.Phe427= | |
| ENST00000699762.1:c.1111T= | ENSP00000514570.1:p.Phe371= | |
| ENST00000699763.1:c.*774T= | ENSP00000514571.1:n.*774T= | |
| ENST00000699764.1:c.*2T= | ENSP00000514572.1:n.*2T= | |
| ENST00000699765.1:c.*780T= | ENSP00000514573.1:n.*780T= | |
| ENST00000699766.1:c.1684T= | ENSP00000514574.1:p.Phe562= | |
| ENST00000699767.1:c.1684T= | ENSP00000514575.1:p.Phe562= | |
| ENST00000699768.1:c.1684T= | ENSP00000514576.1:p.Phe562= | |
| ENST00000699811.1:c.1279T= | ENSP00000514614.1:p.Phe427= | |
| ENST00000699813.1:n.1797T= | ||
| ENST00000699814.1:c.1307T= | ||
| ENST00000699815.1:c.*1215T= | ENSP00000514616.1:n.*1215T= | |
| ENST00000699816.1:c.*574T= | ENSP00000514617.1:n.*574T= | |
| ENST00000699817.1:c.*1278T= | ENSP00000514618.1:n.*1278T= | |
| ENST00000699818.1:c.1279T= | ENSP00000514619.1:p.Phe427= | |
| ENST00000699819.1:c.*841T= | ENSP00000514620.1:n.*841T= | |
| ENST00000699820.1:c.1144+2719T= | ENSP00000514621.1:n.1144+2719T= | |
| ENST00000699821.1:c.1279T= | ENSP00000514622.1:p.Phe427= | |
| ENST00000699822.1:c.*1136T= | ENSP00000514623.1:n.*1136T= | |
| ENST00000699823.1:c.1279T= | ENSP00000514624.1:p.Phe427= | |
| ENST00000699824.1:c.*1187T= | ENSP00000514625.1:n.*1187T= | |
| ENST00000699825.1:c.1123T= | ENSP00000514626.1:p.Phe375= | |
| ENST00000699826.1:c.*1083T= | ENSP00000514627.1:n.*1083T= | |
| ENST00000699827.1:c.1516T= | ENSP00000514628.1:p.Phe506= | |
| ENST00000699828.1:c.*774T= | ENSP00000514629.1:n.*774T= | |
| ENST00000699833.1:n.3456T= | ||
| ENST00000699837.1:c.1279T= | ENSP00000514635.1:p.Phe427= | |
| ENST00000699838.1:c.*1584T= | ENSP00000514636.1:n.*1584T= | |
| ENST00000699839.1:c.1870T= | ENSP00000514637.1:p.Phe624= | |
| ENST00000699916.1:c.*941T= | ENSP00000514684.1:n.*941T= | |
| ENST00000699917.1:c.*1133T= | ENSP00000514685.1:n.*1133T= | |
| ENST00000699918.1:c.*1185T= | ENSP00000514686.1:n.*1185T= | |
| ENST00000699919.1:c.*1271T= | ENSP00000514687.1:n.*1271T= | |
| ENST00000699920.1:c.*1320T= | ENSP00000514688.1:n.*1320T= | |
| ENST00000699928.1:c.989-4090T= | ENSP00000514693.1:n.989-4090T= | |
| ENST00000699929.1:c.*985T= | ENSP00000514694.1:n.*985T= | |
| ENST00000699930.1:c.1576T= | ENSP00000514695.1:p.Phe526= | |
| ENST00000699931.1:n.3112T= | ||
| ENST00000699951.1:c.*780T= | ENSP00000514706.1:n.*780T= | |
| ENST00000699952.1:c.803+10245T= | ENSP00000514707.1:n.803+10245T= | |
| ENST00000699953.1:c.*791T= | ENSP00000514708.1:n.*791T= | |
| ENST00000699954.1:c.*985T= | ENSP00000514709.1:n.*985T= | |
| ENST00000265849.12:c.1684T= MANE Select | ENSP00000265849.7:p.Phe562= | |
| ENST00000642292.1:c.1279T= | ENSP00000495524.1:p.Phe427= | |
| ENST00000642456.1:c.1279T= | ENSP00000493814.1:p.Phe427= | |
| ENST00000643595.1:c.*1083T= | ENSP00000494497.1:n.*1083T= | |
| ENST00000644110.1:c.1366T= | ENSP00000496392.1:p.Phe456= | |
| ENST00000265849.11:c.1684T= | ENSP00000265849.7:p.Phe562= | |
| ENST00000382321.5:c.804-4090T= | ENSP00000371758.4:n.804-4090T= | |
| ENST00000406569.7:n.1678+6T= | ||
| ENST00000441476.6:c.1366T= | ENSP00000392843.2:p.Phe456= | |
| ENST00000469652.1:n.63-4176T= | ||
| NM_000535.5:c.1684T= , LRG_161t1:c.1684T= | NP_000526.1:p.Phe562= | |
| NR_003085.2:n.1766T= | ||
| XM_006715742.2:c.1678T= | XP_006715805.1:p.Phe560= | |
| XM_006715744.2:c.751T= | XP_006715807.1:p.Phe251= | |
| XM_011515427.1:c.1729T= | XP_011513729.1:p.Phe577= | |
| XM_011515428.1:c.1573T= | XP_011513730.1:p.Phe525= | |
| XM_011515429.1:c.1366T= | XP_011513731.1:p.Phe456= | |
| XM_011515430.1:c.1366T= | XP_011513732.1:p.Phe456= | |
| NM_000535.6:c.1684T= | NP_000526.2:p.Phe562= | |
| NM_001322003.1:c.1279T= | NP_001308932.1:p.Phe427= | |
| NM_001322004.1:c.1279T= | NP_001308933.1:p.Phe427= | |
| NM_001322005.1:c.1279T= | NP_001308934.1:p.Phe427= | |
| NM_001322006.1:c.1528T= | NP_001308935.1:p.Phe510= | |
| NM_001322007.1:c.1366T= | NP_001308936.1:p.Phe456= | |
| NM_001322008.1:c.1366T= | NP_001308937.1:p.Phe456= | |
| NM_001322009.1:c.1279T= | NP_001308938.1:p.Phe427= | |
| NM_001322010.1:c.1123T= | NP_001308939.1:p.Phe375= | |
| NM_001322011.1:c.751T= | NP_001308940.1:p.Phe251= | |
| NM_001322012.1:c.751T= | NP_001308941.1:p.Phe251= | |
| NM_001322013.1:c.1111T= | NP_001308942.1:p.Phe371= | |
| NM_001322014.1:c.1684T= | NP_001308943.1:p.Phe562= | |
| NM_001322015.1:c.1375T= | NP_001308944.1:p.Phe459= | |
| NR_136154.1:n.1771T= | ||
| XM_006715744.4:c.751T= | XP_006715807.1:p.Phe251= | |
| XM_017012342.2:c.751T= | XP_016867831.1:p.Phe251= | |
| XM_024446800.1:c.1123T= | XP_024302568.1:p.Phe375= | |
| NM_000535.7:c.1684T= MANE Select | NP_000526.2:p.Phe562= | |
| NM_001322003.2:c.1279T= | NP_001308932.1:p.Phe427= | |
| NM_001322004.2:c.1279T= | NP_001308933.1:p.Phe427= | |
| NM_001322005.2:c.1279T= | NP_001308934.1:p.Phe427= | |
| NM_001322006.2:c.1528T= | NP_001308935.1:p.Phe510= | |
| NM_001322008.2:c.1366T= | NP_001308937.1:p.Phe456= | |
| NM_001322009.2:c.1279T= | NP_001308938.1:p.Phe427= | |
| NM_001322010.2:c.1123T= | NP_001308939.1:p.Phe375= | |
| NM_001322011.2:c.751T= | NP_001308940.1:p.Phe251= | |
| NM_001322012.2:c.751T= | NP_001308941.1:p.Phe251= | |
| NM_001322013.2:c.1111T= | NP_001308942.1:p.Phe371= | |
| NM_001322014.2:c.1684T= | NP_001308943.1:p.Phe562= | |
| NM_001322015.2:c.1375T= | NP_001308944.1:p.Phe459= | |
| NM_001322007.2:c.1366T= | NP_001308936.1:p.Phe456= |