Revel Score:
ENST00000358506
0.677
ENST00000296122
0.677
ENST00000395366 (MANE Select)
0.677
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.28793872G>T , CM000664.2:g.28793872G>T | GRCh38 |
| NC_000002.11:g.29016738G>T , CM000664.1:g.29016738G>T | GRCh37 |
| NC_000002.10:g.28870242G>T | NCBI36 |
| NG_052878.1:g.47125G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420282.6:c.754G>T (PPP1CB) | ENSP00000398839.2:p.Asp252Tyr | |
| ENST00000427786.2:c.*714G>T (PPP1CB) | ENSP00000394589.1:n.*714G>T | |
| ENST00000441461.6:c.754G>T (PPP1CB) | ENSP00000414918.2:p.Asp252Tyr | |
| ENST00000455580.6:c.670G>T (PPP1CB) | ENSP00000390715.2:p.Asp224Tyr | |
| ENST00000703171.1:c.*801G>T (PPP1CB) | ENSP00000515217.1:n.*801G>T | |
| ENST00000703172.1:c.670G>T (PPP1CB) | ENSP00000515218.1:p.Asp224Tyr | |
| ENST00000703173.1:c.754G>T (PPP1CB) | ENSP00000515219.1:p.Asp252Tyr | |
| ENST00000703174.1:c.877G>T (PPP1CB) | ENSP00000515220.1:p.Asp293Tyr | |
| ENST00000703176.1:c.721G>T (PPP1CB) | ENSP00000515221.1:p.Asp241Tyr | |
| ENST00000703177.1:c.*714G>T (PPP1CB) | ENSP00000515222.1:n.*714G>T | |
| ENST00000703183.1:n.637G>T (PPP1CB) | ||
| ENST00000395366.3:c.754G>T (PPP1CB) MANE Select | ENSP00000378769.2:p.Asp252Tyr | |
| ENST00000296122.10:c.754G>T (PPP1CB) | ENSP00000296122.6:p.Asp252Tyr | |
| ENST00000358506.6:c.754G>T (PPP1CB) | ENSP00000351298.2:p.Asp252Tyr | |
| ENST00000395366.2:c.754G>T (PPP1CB) | ENSP00000378769.2:p.Asp252Tyr | |
| ENST00000462832.5:n.581G>T (SPDYA) | ||
| NM_002709.2:c.754G>T (PPP1CB) | NP_002700.1:p.Asp252Tyr | |
| NM_206876.1:c.754G>T (PPP1CB) | NP_996759.1:p.Asp252Tyr | |
| NM_002709.3:c.754G>T (PPP1CB) MANE Select | NP_002700.1:p.Asp252Tyr | |
| NM_206876.2:c.754G>T (PPP1CB) | NP_996759.1:p.Asp252Tyr |