Linked Data
dbSNP Id:
rs147138271
ExAC:
22:38694900 C / T
gnomAD v3:
22-38298895-C-T
gnomAD v4:
22-38298895-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38298895C>T , CM000684.2:g.38298895C>T | GRCh38 |
| NC_000022.10:g.38694900C>T , CM000684.1:g.38694900C>T | GRCh37 |
| NC_000022.9:g.37024846C>T | NCBI36 |
| NG_016707.1:g.24190G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396832.6:c.776G>A (CSNK1E) MANE Select | ENSP00000380044.1:p.Arg259Gln | |
| ENST00000400206.7:c.776G>A (TPTEP2-CSNK1E) | ENSP00000383067.2:p.Arg259Gln | |
| ENST00000612795.2:c.570G>A (CSNK1E) | ||
| ENST00000359867.7:c.776G>A (CSNK1E) | ENSP00000352929.3:p.Arg259Gln | |
| ENST00000396832.5:c.776G>A (CSNK1E) | ENSP00000380044.1:p.Arg259Gln | |
| ENST00000400206.6:c.776G>A (CSNK1E) | ENSP00000383067.2:p.Arg259Gln | |
| ENST00000403904.5:c.776G>A (CSNK1E) | ENSP00000384074.1:p.Arg259Gln | |
| ENST00000405675.7:c.776G>A (CSNK1E) | ENSP00000384426.3:p.Arg259Gln | |
| ENST00000413574.6:c.776G>A (CSNK1E) | ENSP00000407235.2:p.Arg259Gln | |
| ENST00000431611.5:c.251G>A (CSNK1E) | ||
| ENST00000442216.1:c.171G>A (CSNK1E) | ||
| ENST00000451964.5:c.589G>A (CSNK1E) | ||
| ENST00000498529.5:n.211G>A (CSNK1E) | ||
| ENST00000612795.1:n.570G>A (CSNK1E) | ||
| NM_001289912.1:c.776G>A (TPTEP2-CSNK1E) | NP_001276841.1:p.Arg259Gln | |
| NM_001894.4:c.776G>A (CSNK1E) | NP_001885.1:p.Arg259Gln | |
| NM_152221.2:c.776G>A (CSNK1E) | NP_689407.1:p.Arg259Gln | |
| NM_152221.3:c.776G>A (CSNK1E) MANE Select | NP_689407.1:p.Arg259Gln | |
| NM_001289912.2:c.776G>A (TPTEP2-CSNK1E) | NP_001276841.1:p.Arg259Gln | |
| NM_001894.5:c.776G>A (CSNK1E) | NP_001885.1:p.Arg259Gln |