Linked Data
ClinVar Variation Id:
11079
ClinVar RCV Id:
RCV000011828
dbSNP Id:
rs132630282
ExAC:
X:103042817 A / C
gnomAD v2:
X-103042817-A-C
PubMed:
PMID:1384324
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.103787888A>C , CM000685.2:g.103787888A>C | GRCh38 |
| NC_000023.10:g.103042817A>C , CM000685.1:g.103042817A>C | GRCh37 |
| NC_000023.9:g.102929473A>C | NCBI36 |
| NG_008863.2:g.16378A>C | |
| NG_016452.2:g.49395T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000621218.5:c.544A>C (PLP1) MANE Select | ENSP00000484450.1:p.Thr182Pro | |
| ENST00000461231.5:n.355A>C (PLP1) | ||
| ENST00000466486.1:n.380A>C (PLP1) | ||
| ENST00000478642.5:n.525A>C (PLP1) | ||
| ENST00000479569.5:n.590A>C (PLP1) | ||
| ENST00000485688.5:n.281A>C (PLP1) | ||
| ENST00000494119.1:n.90A>C (PLP1) | ||
| ENST00000612423.4:c.544A>C (PLP1) | ENSP00000481006.1:p.Thr182Pro | |
| ENST00000619236.1:c.439A>C (PLP1) | ENSP00000477619.1:p.Thr147Pro | |
| ENST00000621218.4:c.544A>C (PLP1) | ENSP00000484450.1:p.Thr182Pro | |
| NM_000533.4:c.544A>C (PLP1) | NP_000524.3:p.Thr182Pro | |
| NM_001128834.2:c.544A>C (PLP1) | NP_001122306.1:p.Thr182Pro | |
| NM_001305004.1:c.379A>C (PLP1) | NP_001291933.1:p.Thr127Pro | |
| NM_199478.2:c.439A>C (PLP1) | NP_955772.1:p.Thr147Pro | |
| XR_244483.3:n.862+4793T>G | ||
| NR_146558.1:n.457+4793T>G (RAB9B) | ||
| NR_146560.1:n.743+4793T>G (RAB9B) | ||
| NM_000533.5:c.544A>C (PLP1) MANE Select | NP_000524.3:p.Thr182Pro | |
| NM_199478.3:c.439A>C (PLP1) | NP_955772.1:p.Thr147Pro | |
| NM_001128834.3:c.544A>C (PLP1) | NP_001122306.1:p.Thr182Pro | |
| NR_146558.2:n.432+4793T>G (RAB9B) | ||
| NR_146560.2:n.718+4793T>G (RAB9B) |