Linked Data
ClinVar Variation Id:
436344
dbSNP Id:
rs902326390
gnomAD v3:
X-103788518-G-T
gnomAD v4:
X-103788518-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.103788518G>T , CM000685.2:g.103788518G>T | GRCh38 |
| NC_000023.10:g.103043447G>T , CM000685.1:g.103043447G>T | GRCh37 |
| NC_000023.9:g.102930103G>T | NCBI36 |
| NG_008863.2:g.17008G>T | |
| NG_016452.2:g.48765C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000621218.5:c.696+8G>T (PLP1) MANE Select | ENSP00000484450.1:n.696+8G>T | |
| ENST00000461231.5:n.507+8G>T (PLP1) | ||
| ENST00000466486.1:n.532+8G>T (PLP1) | ||
| ENST00000485688.5:n.433+8G>T (PLP1) | ||
| ENST00000494119.1:n.250G>T (PLP1) | ||
| ENST00000612423.4:c.696+8G>T (PLP1) | ENSP00000481006.1:n.696+8G>T | |
| ENST00000619236.1:c.591+8G>T (PLP1) | ENSP00000477619.1:n.591+8G>T | |
| ENST00000621218.4:c.696+8G>T (PLP1) | ENSP00000484450.1:n.696+8G>T | |
| NM_000533.4:c.696+8G>T (PLP1) | NP_000524.3:n.696+8G>T | |
| NM_001128834.2:c.696+8G>T (PLP1) | NP_001122306.1:n.696+8G>T | |
| NM_001305004.1:c.531+8G>T (PLP1) | NP_001291933.1:n.531+8G>T | |
| NM_199478.2:c.591+8G>T (PLP1) | NP_955772.1:n.591+8G>T | |
| XR_244483.3:n.862+4163C>A | ||
| NR_146558.1:n.457+4163C>A (RAB9B) | ||
| NR_146560.1:n.743+4163C>A (RAB9B) | ||
| NM_000533.5:c.696+8G>T (PLP1) MANE Select | NP_000524.3:n.696+8G>T | |
| NM_199478.3:c.591+8G>T (PLP1) | NP_955772.1:n.591+8G>T | |
| NM_001128834.3:c.696+8G>T (PLP1) | NP_001122306.1:n.696+8G>T | |
| NR_146558.2:n.432+4163C>A (RAB9B) | ||
| NR_146560.2:n.718+4163C>A (RAB9B) |