Revel Score:
ENST00000370396 (MANE Select)
0.918
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.150614617T>C , CM000685.2:g.150614617T>C | GRCh38 |
| NC_000023.10:g.149783090T>C , CM000685.1:g.149783090T>C | GRCh37 |
| NC_000023.9:g.149533748T>C | NCBI36 |
| NG_008199.1:g.51044T>C , LRG_839:g.51044T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684910.1:c.136+18047T>C | ENSP00000509844.1:n.136+18047T>C | |
| ENST00000685439.1:c.-3-4421T>C | ENSP00000508454.1:n.-3-4421T>C | |
| ENST00000685944.1:c.260T>C | ENSP00000509266.1:p.Leu87Pro | |
| ENST00000687215.1:c.-26T>C | ENSP00000509706.1:n.-26T>C | |
| ENST00000687365.1:n.315T>C | ||
| ENST00000688152.1:c.260T>C | ENSP00000509360.1:p.Leu87Pro | |
| ENST00000688403.1:c.-300-24326T>C | ENSP00000508944.1:n.-300-24326T>C | |
| ENST00000689314.1:c.305T>C | ENSP00000510607.1:p.Leu102Pro | |
| ENST00000689694.1:c.260T>C | ENSP00000508718.1:p.Leu87Pro | |
| ENST00000689810.1:c.260T>C | ENSP00000510635.1:p.Leu87Pro | |
| ENST00000690282.1:c.-300-24326T>C | ENSP00000509809.1:n.-300-24326T>C | |
| ENST00000690351.1:c.137-4421T>C | ENSP00000509728.1:n.137-4421T>C | |
| ENST00000691232.1:c.-3-4421T>C | ENSP00000509675.1:n.-3-4421T>C | |
| ENST00000691686.1:c.260T>C | ENSP00000509784.1:p.Leu87Pro | |
| ENST00000691851.1:c.260T>C | ENSP00000510106.1:p.Leu87Pro | |
| ENST00000692015.1:c.231+15931T>C | ENSP00000510634.1:n.231+15931T>C | |
| ENST00000692638.1:c.*9T>C | ENSP00000509412.1:n.*9T>C | |
| ENST00000692852.1:c.260T>C | ENSP00000510337.1:p.Leu87Pro | |
| ENST00000692915.1:c.*255T>C | ENSP00000508547.1:n.*255T>C | |
| ENST00000370396.7:c.260T>C MANE Select | ENSP00000359423.3:p.Leu87Pro | |
| ENST00000306167.11:n.260-4471T>C | ||
| ENST00000370396.6:c.260T>C | ENSP00000359423.2:p.Leu87Pro | |
| ENST00000424519.1:c.231+15931T>C | ENSP00000400699.1:n.231+15931T>C | |
| ENST00000490530.1:n.199T>C | ||
| NM_000252.2:c.260T>C , LRG_839t1:c.260T>C | NP_000243.1:p.Leu87Pro | |
| XM_005274687.2:c.260T>C | XP_005274744.1:p.Leu87Pro | |
| XM_011531170.1:c.326T>C | XP_011529472.1:p.Leu109Pro | |
| XM_011531171.1:c.305T>C | XP_011529473.1:p.Leu102Pro | |
| XM_011531172.1:c.305T>C | XP_011529474.1:p.Leu102Pro | |
| XM_011531173.1:c.260T>C | XP_011529475.1:p.Leu87Pro | |
| XM_011531173.2:c.260T>C | XP_011529475.1:p.Leu87Pro | |
| XM_017029547.1:c.305T>C | XP_016885036.1:p.Leu102Pro | |
| XM_017029548.1:c.305T>C | XP_016885037.1:p.Leu102Pro | |
| XM_017029549.1:c.260T>C | XP_016885038.1:p.Leu87Pro | |
| XM_017029550.1:c.232-4421T>C | XP_016885039.1:n.232-4421T>C | |
| NM_000252.3:c.260T>C MANE Select | NP_000243.1:p.Leu87Pro | |
| NM_001376906.1:c.260T>C | NP_001363835.1:p.Leu87Pro | |
| NM_001376907.1:c.232-4421T>C | NP_001363836.1:n.232-4421T>C | |
| NM_001376908.1:c.260T>C | NP_001363837.1:p.Leu87Pro |