Revel Score:
ENST00000418604
0.726
ENST00000303958
0.726
ENST00000428755
0.726
gnomAD v4:
Joint Max Group AF
0.00000105 (NFE)
Exomes Max Group AF
0.00000111 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.103786682C>T , CM000685.2:g.103786682C>T | GRCh38 |
| NC_000023.10:g.103041611C>T , CM000685.1:g.103041611C>T | GRCh37 |
| NC_000023.9:g.102928267C>T | NCBI36 |
| NG_008863.2:g.15172C>T | |
| NG_016452.2:g.50601G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000621218.5:c.409C>T (PLP1) MANE Select | ENSP00000484450.1:p.Arg137Trp | |
| ENST00000455268.5:c.409C>T (PLP1) | ||
| ENST00000461231.5:n.264+61C>T (PLP1) | ||
| ENST00000465975.1:n.312-45C>T (PLP1) | ||
| ENST00000476160.1:n.388C>T (PLP1) | ||
| ENST00000478642.5:n.390C>T (PLP1) | ||
| ENST00000479569.5:n.499+61C>T (PLP1) | ||
| ENST00000485688.5:n.190+61C>T (PLP1) | ||
| ENST00000485931.5:n.487C>T (PLP1) | ||
| ENST00000494475.5:c.409C>T (PLP1) | ||
| ENST00000612423.4:c.409C>T (PLP1) | ENSP00000481006.1:p.Arg137Trp | |
| ENST00000619236.1:c.348+61C>T (PLP1) | ENSP00000477619.1:n.348+61C>T | |
| ENST00000621218.4:c.409C>T (PLP1) | ENSP00000484450.1:p.Arg137Trp | |
| NM_000533.4:c.409C>T (PLP1) | NP_000524.3:p.Arg137Trp | |
| NM_001128834.2:c.409C>T (PLP1) | NP_001122306.1:p.Arg137Trp | |
| NM_001305004.1:c.244C>T (PLP1) | NP_001291933.1:p.Arg82Trp | |
| NM_199478.2:c.348+61C>T (PLP1) | NP_955772.1:n.348+61C>T | |
| XR_244483.3:n.862+5999G>A | ||
| NR_146558.1:n.457+5999G>A (RAB9B) | ||
| NR_146560.1:n.743+5999G>A (RAB9B) | ||
| NM_000533.5:c.409C>T (PLP1) MANE Select | NP_000524.3:p.Arg137Trp | |
| NM_199478.3:c.348+61C>T (PLP1) | NP_955772.1:n.348+61C>T | |
| NM_001128834.3:c.409C>T (PLP1) | NP_001122306.1:p.Arg137Trp | |
| NR_146558.2:n.432+5999G>A (RAB9B) | ||
| NR_146560.2:n.718+5999G>A (RAB9B) |