Linked Data
ClinVar Variation Id:
129975
dbSNP Id:
rs2233697
ExAC:
X:103040674 A / G
gnomAD v2:
X-103040674-A-G
gnomAD v3:
X-103785745-A-G
gnomAD v4:
X-103785745-A-G
COSMIC:
COSM5426181
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.103785745A>G , CM000685.2:g.103785745A>G | GRCh38 |
| NC_000023.10:g.103040674A>G , CM000685.1:g.103040674A>G | GRCh37 |
| NC_000023.9:g.102927330A>G | NCBI36 |
| NG_008863.2:g.14235A>G | |
| NG_016452.2:g.51538T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000621218.5:c.168A>G (PLP1) MANE Select | ENSP00000484450.1:p.Gln56= | |
| ENST00000422393.5:c.168A>G (PLP1) | ENSP00000413931.1:p.Gln56= | |
| ENST00000433491.5:c.168A>G (PLP1) | ENSP00000393391.1:p.Gln56= | |
| ENST00000434483.5:c.168A>G (PLP1) | ENSP00000403335.1:p.Gln56= | |
| ENST00000443502.5:c.168A>G (PLP1) | ENSP00000391853.1:p.Gln56= | |
| ENST00000455268.5:c.168A>G (PLP1) | ENSP00000409802.1:p.Gln56= | |
| ENST00000464776.5:n.432A>G (PLP1) | ||
| ENST00000465975.1:n.290A>G (PLP1) | ||
| ENST00000479569.5:n.319A>G (PLP1) | ||
| ENST00000480325.1:n.247A>G (PLP1) | ||
| ENST00000485931.5:n.246A>G (PLP1) | ||
| ENST00000494475.5:c.168A>G (PLP1) | ENSP00000480409.1:p.Gln56= | |
| ENST00000495678.5:n.470A>G (PLP1) | ||
| ENST00000612423.4:c.168A>G (PLP1) | ENSP00000481006.1:p.Gln56= | |
| ENST00000619236.1:c.168A>G (PLP1) | ENSP00000477619.1:p.Gln56= | |
| ENST00000619257.4:n.398A>G (PLP1) | ||
| ENST00000621218.4:c.168A>G (PLP1) | ENSP00000484450.1:p.Gln56= | |
| NM_000533.4:c.168A>G (PLP1) | NP_000524.3:p.Gln56= | |
| NM_001128834.2:c.168A>G (PLP1) | NP_001122306.1:p.Gln56= | |
| NM_001305004.1:c.5-2A>G (PLP1) | NP_001291933.1:n.5-2A>G | |
| NM_199478.2:c.168A>G (PLP1) | NP_955772.1:p.Gln56= | |
| XR_244483.3:n.862+6936T>C | ||
| NR_146558.1:n.457+6936T>C (RAB9B) | ||
| NR_146560.1:n.743+6936T>C (RAB9B) | ||
| NM_000533.5:c.168A>G (PLP1) MANE Select | NP_000524.3:p.Gln56= | |
| NM_199478.3:c.168A>G (PLP1) | NP_955772.1:p.Gln56= | |
| NM_001128834.3:c.168A>G (PLP1) | NP_001122306.1:p.Gln56= | |
| NR_146558.2:n.432+6936T>C (RAB9B) | ||
| NR_146560.2:n.718+6936T>C (RAB9B) |