Revel Score:
ENST00000264276 (MANE Select)
0.313
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201711091C>A , CM000664.2:g.201711091C>A | GRCh38 |
| NC_000002.11:g.202575814C>A , CM000664.1:g.202575814C>A | GRCh37 |
| NC_000002.10:g.202284059C>A | NCBI36 |
| NG_008775.1:g.75082G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264276.11:c.4022G>T MANE Select | ENSP00000264276.6:p.Arg1341Leu | |
| ENST00000439495.6:c.*202G>T | ENSP00000403832.2:n.*202G>T | |
| ENST00000679409.1:c.*492G>T | ENSP00000506531.1:n.*492G>T | |
| ENST00000679416.1:n.5526G>T | ||
| ENST00000679427.1:n.1458G>T | ||
| ENST00000679435.1:c.4022G>T | ENSP00000505218.1:p.Arg1341Leu | |
| ENST00000679516.1:c.4022G>T | ENSP00000505187.1:p.Arg1341Leu | |
| ENST00000679618.1:c.*1110G>T | ENSP00000506274.1:n.*1110G>T | |
| ENST00000679630.1:n.5871G>T | ||
| ENST00000679635.1:n.2049G>T | ||
| ENST00000679686.1:n.4136G>T | ||
| ENST00000679701.1:n.7014G>T | ||
| ENST00000679916.1:c.*370G>T | ENSP00000506172.1:n.*370G>T | |
| ENST00000680000.1:c.4022G>T | ENSP00000506173.1:p.Arg1341Leu | |
| ENST00000680135.1:c.*1983G>T | ENSP00000506211.1:n.*1983G>T | |
| ENST00000680149.1:c.4019G>T | ENSP00000506497.1:p.Arg1340Leu | |
| ENST00000680163.1:c.4022G>T | ENSP00000505092.1:p.Arg1341Leu | |
| ENST00000680174.1:n.4713G>T | ||
| ENST00000680236.1:c.*1083G>T | ENSP00000506212.1:n.*1083G>T | |
| ENST00000680441.1:n.2580G>T | ||
| ENST00000680497.1:c.4124G>T | ENSP00000505954.1:p.Arg1375Leu | |
| ENST00000680508.1:c.4019G>T | ENSP00000505749.1:p.Arg1340Leu | |
| ENST00000680569.1:c.*1730G>T | ENSP00000505522.1:n.*1730G>T | |
| ENST00000680634.1:n.530G>T | ||
| ENST00000680722.1:n.1822G>T | ||
| ENST00000680726.1:c.4022G>T | ENSP00000505505.1:p.Arg1341Leu | |
| ENST00000680759.1:c.3854G>T | ENSP00000505848.1:p.Arg1285Leu | |
| ENST00000680814.1:c.4022G>T | ENSP00000505710.1:p.Arg1341Leu | |
| ENST00000680828.1:c.*1716G>T | ENSP00000505249.1:n.*1716G>T | |
| ENST00000680861.1:c.4022G>T | ENSP00000505043.1:p.Arg1341Leu | |
| ENST00000680927.1:c.*202G>T | ENSP00000505473.1:n.*202G>T | |
| ENST00000680939.1:n.4364G>T | ||
| ENST00000681250.1:c.*739G>T | ENSP00000505684.1:n.*739G>T | |
| ENST00000681256.1:c.*2037G>T | ENSP00000505446.1:n.*2037G>T | |
| ENST00000681279.1:n.4888G>T | ||
| ENST00000681307.1:n.5135G>T | ||
| ENST00000681461.1:n.4790G>T | ||
| ENST00000681495.1:c.1559G>T | ENSP00000506085.1:p.Arg520Leu | |
| ENST00000681558.1:c.1700G>T | ENSP00000505568.1:p.Arg567Leu | |
| ENST00000681619.1:c.4019G>T | ENSP00000505071.1:p.Arg1340Leu | |
| ENST00000681663.1:n.928G>T | ||
| ENST00000681692.1:n.1982G>T | ||
| ENST00000681716.1:c.*1876G>T | ENSP00000505078.1:n.*1876G>T | |
| ENST00000681768.1:c.*1686G>T | ENSP00000506311.1:n.*1686G>T | |
| ENST00000681808.1:c.4022G>T | ENSP00000505219.1:p.Arg1341Leu | |
| ENST00000264276.10:c.4022G>T | ENSP00000264276.6:p.Arg1341Leu | |
| ENST00000439495.5:c.2126G>T | ||
| NM_020919.3:c.4022G>T | NP_065970.2:p.Arg1341Leu | |
| XM_005246709.2:c.4019G>T | XP_005246766.1:p.Arg1340Leu | |
| XM_006712654.1:c.4022G>T | XP_006712717.1:p.Arg1341Leu | |
| XM_006712655.2:c.1958G>T | XP_006712718.1:p.Arg653Leu | |
| XM_011511530.1:c.3683G>T | XP_011509832.1:p.Arg1228Leu | |
| XR_922974.1:n.4300G>T | ||
| XM_006712654.3:c.4022G>T | XP_006712717.1:p.Arg1341Leu | |
| XM_006712655.3:c.1958G>T | XP_006712718.1:p.Arg653Leu | |
| XM_017004569.2:c.4019G>T | XP_016860058.1:p.Arg1340Leu | |
| XM_017004572.2:c.1640G>T | XP_016860061.1:p.Arg547Leu | |
| XM_024453024.1:c.3683G>T | XP_024308792.1:p.Arg1228Leu | |
| XM_024453025.1:c.1955G>T | XP_024308793.1:p.Arg652Leu | |
| XR_001738864.2:n.4157G>T | ||
| XR_001738865.2:n.4154G>T | ||
| XR_001738866.2:n.4300G>T | ||
| XR_001738867.2:n.4297G>T | ||
| XR_002959320.1:n.3213G>T | ||
| NM_020919.4:c.4022G>T MANE Select | NP_065970.2:p.Arg1341Leu |