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.5982846G= , CM000669.2:g.5982846G= | GRCh38 |
| NC_000007.13:g.6022477G= , CM000669.1:g.6022477G= | GRCh37 |
| NC_000007.12:g.5989003G= | NCBI36 |
| NG_008466.1:g.31261C= , LRG_161:g.31261C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*1548C= | ENSP00000514615.2:n.*1548C= | |
| ENST00000699840.2:c.2149C= | ENSP00000514638.2:p.Leu717= | |
| ENST00000699930.2:c.2044C= | ENSP00000514695.2:p.Leu682= | |
| ENST00000406569.8:c.1678+4241C= | ENSP00000514464.1:n.1678+4241C= | |
| ENST00000644110.2:c.*1746C= | ENSP00000496392.2:n.*1746C= | |
| ENST00000699752.1:c.1996C= | ENSP00000514561.1:p.Leu666= | |
| ENST00000699753.1:c.*1573C= | ENSP00000514562.1:n.*1573C= | |
| ENST00000699754.1:c.1954C= | ENSP00000514563.1:p.Leu652= | |
| ENST00000699755.1:c.*1551C= | ENSP00000514564.1:n.*1551C= | |
| ENST00000699756.1:c.*1739C= | ENSP00000514565.1:n.*1739C= | |
| ENST00000699757.1:c.*1409C= | ENSP00000514566.1:n.*1409C= | |
| ENST00000699758.1:c.*1409C= | ENSP00000514567.1:n.*1409C= | |
| ENST00000699759.1:n.3006C= | ||
| ENST00000699760.1:c.1834C= | ENSP00000514568.1:p.Leu612= | |
| ENST00000699761.1:c.1747C= | ENSP00000514569.1:p.Leu583= | |
| ENST00000699762.1:c.1579C= | ENSP00000514570.1:p.Leu527= | |
| ENST00000699763.1:c.*1242C= | ENSP00000514571.1:n.*1242C= | |
| ENST00000699764.1:c.*470C= | ENSP00000514572.1:n.*470C= | |
| ENST00000699765.1:c.*1248C= | ENSP00000514573.1:n.*1248C= | |
| ENST00000699766.1:c.2152C= | ENSP00000514574.1:p.Leu718= | |
| ENST00000699767.1:c.2152C= | ENSP00000514575.1:p.Leu718= | |
| ENST00000699768.1:c.2152C= | ENSP00000514576.1:p.Leu718= | |
| ENST00000699811.1:c.1747C= | ENSP00000514614.1:p.Leu583= | |
| ENST00000699813.1:n.2265C= | ||
| ENST00000699814.1:c.1775C= | ||
| ENST00000699815.1:c.*1683C= | ENSP00000514616.1:n.*1683C= | |
| ENST00000699816.1:c.*1042C= | ENSP00000514617.1:n.*1042C= | |
| ENST00000699817.1:c.*1746C= | ENSP00000514618.1:n.*1746C= | |
| ENST00000699818.1:c.1747C= | ENSP00000514619.1:p.Leu583= | |
| ENST00000699819.1:c.*1309C= | ENSP00000514620.1:n.*1309C= | |
| ENST00000699820.1:c.*90C= | ENSP00000514621.1:n.*90C= | |
| ENST00000699821.1:c.1747C= | ENSP00000514622.1:p.Leu583= | |
| ENST00000699822.1:c.*1604C= | ENSP00000514623.1:n.*1604C= | |
| ENST00000699823.1:c.1747C= | ENSP00000514624.1:p.Leu583= | |
| ENST00000699824.1:c.*1655C= | ENSP00000514625.1:n.*1655C= | |
| ENST00000699825.1:c.1591C= | ENSP00000514626.1:p.Leu531= | |
| ENST00000699826.1:c.*1551C= | ENSP00000514627.1:n.*1551C= | |
| ENST00000699827.1:c.1984C= | ENSP00000514628.1:p.Leu662= | |
| ENST00000699828.1:c.*1242C= | ENSP00000514629.1:n.*1242C= | |
| ENST00000699833.1:n.3924C= | ||
| ENST00000699837.1:c.1747C= | ENSP00000514635.1:p.Leu583= | |
| ENST00000699838.1:c.*2052C= | ENSP00000514636.1:n.*2052C= | |
| ENST00000699839.1:c.2338C= | ENSP00000514637.1:p.Leu780= | |
| ENST00000699916.1:c.*1409C= | ENSP00000514684.1:n.*1409C= | |
| ENST00000699917.1:c.*1601C= | ENSP00000514685.1:n.*1601C= | |
| ENST00000699918.1:c.*1653C= | ENSP00000514686.1:n.*1653C= | |
| ENST00000699919.1:c.*1739C= | ENSP00000514687.1:n.*1739C= | |
| ENST00000699920.1:c.*1788C= | ENSP00000514688.1:n.*1788C= | |
| ENST00000699928.1:c.*90C= | ENSP00000514693.1:n.*90C= | |
| ENST00000699951.1:c.*1248C= | ENSP00000514706.1:n.*1248C= | |
| ENST00000699952.1:c.804-9304C= | ENSP00000514707.1:n.804-9304C= | |
| ENST00000265849.12:c.2152C= MANE Select | ENSP00000265849.7:p.Leu718= | |
| ENST00000642292.1:c.1747C= | ENSP00000495524.1:p.Leu583= | |
| ENST00000642456.1:c.1747C= | ENSP00000493814.1:p.Leu583= | |
| ENST00000643595.1:c.*1551C= | ENSP00000494497.1:n.*1551C= | |
| ENST00000644110.1:c.1834C= | ENSP00000496392.1:p.Leu612= | |
| ENST00000265849.11:c.2152C= | ENSP00000265849.7:p.Leu718= | |
| ENST00000382321.5:c.949C= | ENSP00000371758.4:p.Leu317= | |
| ENST00000406569.7:n.1678+4241C= | ||
| ENST00000441476.6:c.1834C= | ENSP00000392843.2:p.Leu612= | |
| NM_000535.5:c.2152C= , LRG_161t1:c.2152C= | NP_000526.1:p.Leu718= | |
| NR_003085.2:n.2234C= | ||
| XM_006715742.2:c.2146C= | XP_006715805.1:p.Leu716= | |
| XM_006715744.2:c.1219C= | XP_006715807.1:p.Leu407= | |
| XM_011515427.1:c.2197C= | XP_011513729.1:p.Leu733= | |
| XM_011515428.1:c.2041C= | XP_011513730.1:p.Leu681= | |
| XM_011515429.1:c.1834C= | XP_011513731.1:p.Leu612= | |
| XM_011515430.1:c.1834C= | XP_011513732.1:p.Leu612= | |
| NM_000535.6:c.2152C= | NP_000526.2:p.Leu718= | |
| NM_001322003.1:c.1747C= | NP_001308932.1:p.Leu583= | |
| NM_001322004.1:c.1747C= | NP_001308933.1:p.Leu583= | |
| NM_001322005.1:c.1747C= | NP_001308934.1:p.Leu583= | |
| NM_001322006.1:c.1996C= | NP_001308935.1:p.Leu666= | |
| NM_001322007.1:c.1834C= | NP_001308936.1:p.Leu612= | |
| NM_001322008.1:c.1834C= | NP_001308937.1:p.Leu612= | |
| NM_001322009.1:c.1747C= | NP_001308938.1:p.Leu583= | |
| NM_001322010.1:c.1591C= | NP_001308939.1:p.Leu531= | |
| NM_001322011.1:c.1219C= | NP_001308940.1:p.Leu407= | |
| NM_001322012.1:c.1219C= | NP_001308941.1:p.Leu407= | |
| NM_001322013.1:c.1579C= | NP_001308942.1:p.Leu527= | |
| NM_001322014.1:c.2152C= | NP_001308943.1:p.Leu718= | |
| NM_001322015.1:c.1843C= | NP_001308944.1:p.Leu615= | |
| NR_136154.1:n.2239C= | ||
| XM_006715744.4:c.1219C= | XP_006715807.1:p.Leu407= | |
| XM_017012342.2:c.1219C= | XP_016867831.1:p.Leu407= | |
| XM_024446800.1:c.1591C= | XP_024302568.1:p.Leu531= | |
| NM_000535.7:c.2152C= MANE Select | NP_000526.2:p.Leu718= | |
| NM_001322003.2:c.1747C= | NP_001308932.1:p.Leu583= | |
| NM_001322004.2:c.1747C= | NP_001308933.1:p.Leu583= | |
| NM_001322005.2:c.1747C= | NP_001308934.1:p.Leu583= | |
| NM_001322006.2:c.1996C= | NP_001308935.1:p.Leu666= | |
| NM_001322008.2:c.1834C= | NP_001308937.1:p.Leu612= | |
| NM_001322009.2:c.1747C= | NP_001308938.1:p.Leu583= | |
| NM_001322010.2:c.1591C= | NP_001308939.1:p.Leu531= | |
| NM_001322011.2:c.1219C= | NP_001308940.1:p.Leu407= | |
| NM_001322012.2:c.1219C= | NP_001308941.1:p.Leu407= | |
| NM_001322013.2:c.1579C= | NP_001308942.1:p.Leu527= | |
| NM_001322014.2:c.2152C= | NP_001308943.1:p.Leu718= | |
| NM_001322015.2:c.1843C= | NP_001308944.1:p.Leu615= | |
| NM_001322007.2:c.1834C= | NP_001308936.1:p.Leu612= |