Revel Score:
ENST00000418604
0.964
ENST00000303958
0.964
ENST00000361621
0.964
ENST00000428755
0.964
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.103788475G>T , CM000685.2:g.103788475G>T | GRCh38 |
| NC_000023.10:g.103043404G>T , CM000685.1:g.103043404G>T | GRCh37 |
| NC_000023.9:g.102930060G>T | NCBI36 |
| NG_008863.2:g.16965G>T | |
| NG_016452.2:g.48808C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000621218.5:c.661G>T (PLP1) MANE Select | ENSP00000484450.1:p.Gly221Cys | |
| ENST00000461231.5:n.472G>T (PLP1) | ||
| ENST00000466486.1:n.497G>T (PLP1) | ||
| ENST00000485688.5:n.398G>T (PLP1) | ||
| ENST00000494119.1:n.207G>T (PLP1) | ||
| ENST00000612423.4:c.661G>T (PLP1) | ENSP00000481006.1:p.Gly221Cys | |
| ENST00000619236.1:c.556G>T (PLP1) | ENSP00000477619.1:p.Gly186Cys | |
| ENST00000621218.4:c.661G>T (PLP1) | ENSP00000484450.1:p.Gly221Cys | |
| NM_000533.4:c.661G>T (PLP1) | NP_000524.3:p.Gly221Cys | |
| NM_001128834.2:c.661G>T (PLP1) | NP_001122306.1:p.Gly221Cys | |
| NM_001305004.1:c.496G>T (PLP1) | NP_001291933.1:p.Gly166Cys | |
| NM_199478.2:c.556G>T (PLP1) | NP_955772.1:p.Gly186Cys | |
| XR_244483.3:n.862+4206C>A | ||
| NR_146558.1:n.457+4206C>A (RAB9B) | ||
| NR_146560.1:n.743+4206C>A (RAB9B) | ||
| NM_000533.5:c.661G>T (PLP1) MANE Select | NP_000524.3:p.Gly221Cys | |
| NM_199478.3:c.556G>T (PLP1) | NP_955772.1:p.Gly186Cys | |
| NM_001128834.3:c.661G>T (PLP1) | NP_001122306.1:p.Gly221Cys | |
| NR_146558.2:n.432+4206C>A (RAB9B) | ||
| NR_146560.2:n.718+4206C>A (RAB9B) |