Linked Data
ClinVar Variation Id:
11089
ClinVar RCV Id:
RCV000011838
dbSNP Id:
rs132630291
gnomAD v4:
X-103789346-T-C
PubMed:
PMID:8956049
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.103789346T>C , CM000685.2:g.103789346T>C | GRCh38 |
| NC_000023.10:g.103044275T>C , CM000685.1:g.103044275T>C | GRCh37 |
| NC_000023.9:g.102930931T>C | NCBI36 |
| NG_008863.2:g.17836T>C | |
| NG_016452.2:g.47937A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000621218.5:c.710T>C (PLP1) MANE Select | ENSP00000484450.1:p.Phe237Ser | |
| ENST00000461231.5:n.521T>C (PLP1) | ||
| ENST00000466486.1:n.546T>C (PLP1) | ||
| ENST00000485688.5:n.447T>C (PLP1) | ||
| ENST00000496836.1:n.440T>C (PLP1) | ||
| ENST00000612423.4:c.710T>C (PLP1) | ENSP00000481006.1:p.Phe237Ser | |
| ENST00000619236.1:c.605T>C (PLP1) | ENSP00000477619.1:p.Phe202Ser | |
| ENST00000621218.4:c.710T>C (PLP1) | ENSP00000484450.1:p.Phe237Ser | |
| NM_000533.4:c.710T>C (PLP1) | NP_000524.3:p.Phe237Ser | |
| NM_001128834.2:c.710T>C (PLP1) | NP_001122306.1:p.Phe237Ser | |
| NM_001305004.1:c.545T>C (PLP1) | NP_001291933.1:p.Phe182Ser | |
| NM_199478.2:c.605T>C (PLP1) | NP_955772.1:p.Phe202Ser | |
| XR_244483.3:n.862+3335A>G | ||
| NR_146558.1:n.457+3335A>G (RAB9B) | ||
| NR_146560.1:n.743+3335A>G (RAB9B) | ||
| NM_000533.5:c.710T>C (PLP1) MANE Select | NP_000524.3:p.Phe237Ser | |
| NM_199478.3:c.605T>C (PLP1) | NP_955772.1:p.Phe202Ser | |
| NM_001128834.3:c.710T>C (PLP1) | NP_001122306.1:p.Phe237Ser | |
| NR_146558.2:n.432+3335A>G (RAB9B) | ||
| NR_146560.2:n.718+3335A>G (RAB9B) |