Revel Score:
ENST00000370396 (MANE Select)
0.976
ENST00000542741
0.976
ENST00000543350
0.976
ENST00000413012
0.976
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.150645687T>C , CM000685.2:g.150645687T>C | GRCh38 |
| NC_000023.10:g.149814160T>C , CM000685.1:g.149814160T>C | GRCh37 |
| NC_000023.9:g.149564818T>C | NCBI36 |
| NG_008199.1:g.82114T>C , LRG_839:g.82114T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684910.1:c.*216T>C | ENSP00000509844.1:n.*216T>C | |
| ENST00000685439.1:c.338T>C | ENSP00000508454.1:p.Leu113Pro | |
| ENST00000685944.1:c.683T>C | ENSP00000509266.1:p.Leu228Pro | |
| ENST00000686212.1:n.285T>C | ||
| ENST00000687215.1:c.*438T>C | ENSP00000509706.1:n.*438T>C | |
| ENST00000688152.1:c.*127T>C | ENSP00000509360.1:n.*127T>C | |
| ENST00000688403.1:c.-62T>C | ENSP00000508944.1:n.-62T>C | |
| ENST00000689314.1:c.728T>C | ENSP00000510607.1:p.Leu243Pro | |
| ENST00000689694.1:c.683T>C | ENSP00000508718.1:p.Leu228Pro | |
| ENST00000689810.1:c.*332T>C | ENSP00000510635.1:n.*332T>C | |
| ENST00000690282.1:c.-62T>C | ENSP00000509809.1:n.-62T>C | |
| ENST00000690351.1:c.*335T>C | ENSP00000509728.1:n.*335T>C | |
| ENST00000691232.1:c.338T>C | ENSP00000509675.1:p.Leu113Pro | |
| ENST00000691482.1:n.1698T>C | ||
| ENST00000691686.1:c.683T>C | ENSP00000509784.1:p.Leu228Pro | |
| ENST00000691851.1:c.683T>C | ENSP00000510106.1:p.Leu228Pro | |
| ENST00000692015.1:c.470T>C | ENSP00000510634.1:p.Leu157Pro | |
| ENST00000692638.1:c.*488T>C | ENSP00000509412.1:n.*488T>C | |
| ENST00000692852.1:c.679-4029T>C | ENSP00000510337.1:n.679-4029T>C | |
| ENST00000692915.1:c.*890T>C | ENSP00000508547.1:n.*890T>C | |
| ENST00000370396.7:c.683T>C MANE Select | ENSP00000359423.3:p.Leu228Pro | |
| ENST00000306167.11:n.550T>C | ||
| ENST00000370396.6:c.683T>C | ENSP00000359423.2:p.Leu228Pro | |
| ENST00000490530.1:n.622T>C | ||
| NM_000252.2:c.683T>C , LRG_839t1:c.683T>C | NP_000243.1:p.Leu228Pro | |
| XM_005274687.2:c.683T>C | XP_005274744.1:p.Leu228Pro | |
| XM_011531170.1:c.749T>C | XP_011529472.1:p.Leu250Pro | |
| XM_011531171.1:c.728T>C | XP_011529473.1:p.Leu243Pro | |
| XM_011531172.1:c.728T>C | XP_011529474.1:p.Leu243Pro | |
| XM_011531173.1:c.683T>C | XP_011529475.1:p.Leu228Pro | |
| XM_011531173.2:c.683T>C | XP_011529475.1:p.Leu228Pro | |
| XM_017029547.1:c.728T>C | XP_016885036.1:p.Leu243Pro | |
| XM_017029548.1:c.728T>C | XP_016885037.1:p.Leu243Pro | |
| XM_017029549.1:c.683T>C | XP_016885038.1:p.Leu228Pro | |
| XM_017029550.1:c.572T>C | XP_016885039.1:p.Leu191Pro | |
| XM_017029551.2:c.-62T>C | XP_016885040.1:n.-62T>C | |
| NM_000252.3:c.683T>C MANE Select | NP_000243.1:p.Leu228Pro | |
| NM_001376906.1:c.683T>C | NP_001363835.1:p.Leu228Pro | |
| NM_001376907.1:c.572T>C | NP_001363836.1:p.Leu191Pro | |
| NM_001376908.1:c.683T>C | NP_001363837.1:p.Leu228Pro |