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.5986984A>T , CM000669.2:g.5986984A>T | GRCh38 |
| NC_000007.13:g.6026615A>T , CM000669.1:g.6026615A>T | GRCh37 |
| NC_000007.12:g.5993141A>T | NCBI36 |
| NG_008466.1:g.27123T>A , LRG_161:g.27123T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*1177T>A | ENSP00000514615.2:n.*1177T>A | |
| ENST00000699840.2:c.1778T>A | ENSP00000514638.2:p.Leu593Ter | |
| ENST00000699930.2:c.1673T>A | ENSP00000514695.2:p.Leu558Ter | |
| ENST00000406569.8:c.1678+103T>A | ENSP00000514464.1:n.1678+103T>A | |
| ENST00000644110.2:c.*1375T>A | ENSP00000496392.2:n.*1375T>A | |
| ENST00000699752.1:c.1625T>A | ENSP00000514561.1:p.Leu542Ter | |
| ENST00000699753.1:c.*1202T>A | ENSP00000514562.1:n.*1202T>A | |
| ENST00000699754.1:c.1583T>A | ENSP00000514563.1:p.Leu528Ter | |
| ENST00000699755.1:c.*1180T>A | ENSP00000514564.1:n.*1180T>A | |
| ENST00000699756.1:c.*1368T>A | ENSP00000514565.1:n.*1368T>A | |
| ENST00000699757.1:c.*1038T>A | ENSP00000514566.1:n.*1038T>A | |
| ENST00000699758.1:c.*1038T>A | ENSP00000514567.1:n.*1038T>A | |
| ENST00000699759.1:n.2635T>A | ||
| ENST00000699760.1:c.1463T>A | ENSP00000514568.1:p.Leu488Ter | |
| ENST00000699761.1:c.1376T>A | ENSP00000514569.1:p.Leu459Ter | |
| ENST00000699762.1:c.1208T>A | ENSP00000514570.1:p.Leu403Ter | |
| ENST00000699763.1:c.*871T>A | ENSP00000514571.1:n.*871T>A | |
| ENST00000699764.1:c.*99T>A | ENSP00000514572.1:n.*99T>A | |
| ENST00000699765.1:c.*877T>A | ENSP00000514573.1:n.*877T>A | |
| ENST00000699766.1:c.1781T>A | ENSP00000514574.1:p.Leu594Ter | |
| ENST00000699767.1:c.1781T>A | ENSP00000514575.1:p.Leu594Ter | |
| ENST00000699768.1:c.1781T>A | ENSP00000514576.1:p.Leu594Ter | |
| ENST00000699811.1:c.1376T>A | ENSP00000514614.1:p.Leu459Ter | |
| ENST00000699813.1:n.1894T>A | ||
| ENST00000699814.1:c.1404T>A | ||
| ENST00000699815.1:c.*1312T>A | ENSP00000514616.1:n.*1312T>A | |
| ENST00000699816.1:c.*671T>A | ENSP00000514617.1:n.*671T>A | |
| ENST00000699817.1:c.*1375T>A | ENSP00000514618.1:n.*1375T>A | |
| ENST00000699818.1:c.1376T>A | ENSP00000514619.1:p.Leu459Ter | |
| ENST00000699819.1:c.*938T>A | ENSP00000514620.1:n.*938T>A | |
| ENST00000699820.1:c.1144+2816T>A | ENSP00000514621.1:n.1144+2816T>A | |
| ENST00000699821.1:c.1376T>A | ENSP00000514622.1:p.Leu459Ter | |
| ENST00000699822.1:c.*1233T>A | ENSP00000514623.1:n.*1233T>A | |
| ENST00000699823.1:c.1376T>A | ENSP00000514624.1:p.Leu459Ter | |
| ENST00000699824.1:c.*1284T>A | ENSP00000514625.1:n.*1284T>A | |
| ENST00000699825.1:c.1220T>A | ENSP00000514626.1:p.Leu407Ter | |
| ENST00000699826.1:c.*1180T>A | ENSP00000514627.1:n.*1180T>A | |
| ENST00000699827.1:c.1613T>A | ENSP00000514628.1:p.Leu538Ter | |
| ENST00000699828.1:c.*871T>A | ENSP00000514629.1:n.*871T>A | |
| ENST00000699833.1:n.3553T>A | ||
| ENST00000699837.1:c.1376T>A | ENSP00000514635.1:p.Leu459Ter | |
| ENST00000699838.1:c.*1681T>A | ENSP00000514636.1:n.*1681T>A | |
| ENST00000699839.1:c.1967T>A | ENSP00000514637.1:p.Leu656Ter | |
| ENST00000699916.1:c.*1038T>A | ENSP00000514684.1:n.*1038T>A | |
| ENST00000699917.1:c.*1230T>A | ENSP00000514685.1:n.*1230T>A | |
| ENST00000699918.1:c.*1282T>A | ENSP00000514686.1:n.*1282T>A | |
| ENST00000699919.1:c.*1368T>A | ENSP00000514687.1:n.*1368T>A | |
| ENST00000699920.1:c.*1417T>A | ENSP00000514688.1:n.*1417T>A | |
| ENST00000699928.1:c.989-3993T>A | ENSP00000514693.1:n.989-3993T>A | |
| ENST00000699929.1:c.*1082T>A | ENSP00000514694.1:n.*1082T>A | |
| ENST00000699930.1:c.1673T>A | ENSP00000514695.1:p.Leu558Ter | |
| ENST00000699931.1:n.3209T>A | ||
| ENST00000699951.1:c.*877T>A | ENSP00000514706.1:n.*877T>A | |
| ENST00000699952.1:c.803+10342T>A | ENSP00000514707.1:n.803+10342T>A | |
| ENST00000699953.1:c.*888T>A | ENSP00000514708.1:n.*888T>A | |
| ENST00000699954.1:c.*1082T>A | ENSP00000514709.1:n.*1082T>A | |
| ENST00000265849.12:c.1781T>A MANE Select | ENSP00000265849.7:p.Leu594Ter | |
| ENST00000642292.1:c.1376T>A | ENSP00000495524.1:p.Leu459Ter | |
| ENST00000642456.1:c.1376T>A | ENSP00000493814.1:p.Leu459Ter | |
| ENST00000643595.1:c.*1180T>A | ENSP00000494497.1:n.*1180T>A | |
| ENST00000644110.1:c.1463T>A | ENSP00000496392.1:p.Leu488Ter | |
| ENST00000265849.11:c.1781T>A | ENSP00000265849.7:p.Leu594Ter | |
| ENST00000382321.5:c.804-3993T>A | ENSP00000371758.4:n.804-3993T>A | |
| ENST00000406569.7:n.1678+103T>A | ||
| ENST00000441476.6:c.1463T>A | ENSP00000392843.2:p.Leu488Ter | |
| ENST00000469652.1:n.63-4079T>A | ||
| NM_000535.5:c.1781T>A , LRG_161t1:c.1781T>A | NP_000526.1:p.Leu594Ter | |
| NR_003085.2:n.1863T>A | ||
| XM_006715742.2:c.1775T>A | XP_006715805.1:p.Leu592Ter | |
| XM_006715744.2:c.848T>A | XP_006715807.1:p.Leu283Ter | |
| XM_011515427.1:c.1826T>A | XP_011513729.1:p.Leu609Ter | |
| XM_011515428.1:c.1670T>A | XP_011513730.1:p.Leu557Ter | |
| XM_011515429.1:c.1463T>A | XP_011513731.1:p.Leu488Ter | |
| XM_011515430.1:c.1463T>A | XP_011513732.1:p.Leu488Ter | |
| NM_000535.6:c.1781T>A | NP_000526.2:p.Leu594Ter | |
| NM_001322003.1:c.1376T>A | NP_001308932.1:p.Leu459Ter | |
| NM_001322004.1:c.1376T>A | NP_001308933.1:p.Leu459Ter | |
| NM_001322005.1:c.1376T>A | NP_001308934.1:p.Leu459Ter | |
| NM_001322006.1:c.1625T>A | NP_001308935.1:p.Leu542Ter | |
| NM_001322007.1:c.1463T>A | NP_001308936.1:p.Leu488Ter | |
| NM_001322008.1:c.1463T>A | NP_001308937.1:p.Leu488Ter | |
| NM_001322009.1:c.1376T>A | NP_001308938.1:p.Leu459Ter | |
| NM_001322010.1:c.1220T>A | NP_001308939.1:p.Leu407Ter | |
| NM_001322011.1:c.848T>A | NP_001308940.1:p.Leu283Ter | |
| NM_001322012.1:c.848T>A | NP_001308941.1:p.Leu283Ter | |
| NM_001322013.1:c.1208T>A | NP_001308942.1:p.Leu403Ter | |
| NM_001322014.1:c.1781T>A | NP_001308943.1:p.Leu594Ter | |
| NM_001322015.1:c.1472T>A | NP_001308944.1:p.Leu491Ter | |
| NR_136154.1:n.1868T>A | ||
| XM_006715744.4:c.848T>A | XP_006715807.1:p.Leu283Ter | |
| XM_017012342.2:c.848T>A | XP_016867831.1:p.Leu283Ter | |
| XM_024446800.1:c.1220T>A | XP_024302568.1:p.Leu407Ter | |
| NM_000535.7:c.1781T>A MANE Select | NP_000526.2:p.Leu594Ter | |
| NM_001322003.2:c.1376T>A | NP_001308932.1:p.Leu459Ter | |
| NM_001322004.2:c.1376T>A | NP_001308933.1:p.Leu459Ter | |
| NM_001322005.2:c.1376T>A | NP_001308934.1:p.Leu459Ter | |
| NM_001322006.2:c.1625T>A | NP_001308935.1:p.Leu542Ter | |
| NM_001322008.2:c.1463T>A | NP_001308937.1:p.Leu488Ter | |
| NM_001322009.2:c.1376T>A | NP_001308938.1:p.Leu459Ter | |
| NM_001322010.2:c.1220T>A | NP_001308939.1:p.Leu407Ter | |
| NM_001322011.2:c.848T>A | NP_001308940.1:p.Leu283Ter | |
| NM_001322012.2:c.848T>A | NP_001308941.1:p.Leu283Ter | |
| NM_001322013.2:c.1208T>A | NP_001308942.1:p.Leu403Ter | |
| NM_001322014.2:c.1781T>A | NP_001308943.1:p.Leu594Ter | |
| NM_001322015.2:c.1472T>A | NP_001308944.1:p.Leu491Ter | |
| NM_001322007.2:c.1463T>A | NP_001308936.1:p.Leu488Ter |