Linked Data
dbSNP Id:
rs745393003
ExAC:
22:38694849 A / G
gnomAD v2:
22-38694849-A-G
gnomAD v4:
22-38298844-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38298844A>G , CM000684.2:g.38298844A>G | GRCh38 |
| NC_000022.10:g.38694849A>G , CM000684.1:g.38694849A>G | GRCh37 |
| NC_000022.9:g.37024795A>G | NCBI36 |
| NG_016707.1:g.24241T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396832.6:c.827T>C (CSNK1E) MANE Select | ENSP00000380044.1:p.Leu276Pro | |
| ENST00000400206.7:c.827T>C (TPTEP2-CSNK1E) | ENSP00000383067.2:p.Leu276Pro | |
| ENST00000612795.2:c.621T>C (CSNK1E) | ||
| ENST00000359867.7:c.827T>C (CSNK1E) | ENSP00000352929.3:p.Leu276Pro | |
| ENST00000396832.5:c.827T>C (CSNK1E) | ENSP00000380044.1:p.Leu276Pro | |
| ENST00000400206.6:c.827T>C (CSNK1E) | ENSP00000383067.2:p.Leu276Pro | |
| ENST00000403904.5:c.827T>C (CSNK1E) | ENSP00000384074.1:p.Leu276Pro | |
| ENST00000405675.7:c.827T>C (CSNK1E) | ENSP00000384426.3:p.Leu276Pro | |
| ENST00000413574.6:c.827T>C (CSNK1E) | ENSP00000407235.2:p.Leu276Pro | |
| ENST00000431611.5:c.302T>C (CSNK1E) | ||
| ENST00000431632.5:c.9T>C (CSNK1E) | ||
| ENST00000442216.1:c.222T>C (CSNK1E) | ||
| ENST00000451964.5:c.640T>C (CSNK1E) | ||
| ENST00000498529.5:n.262T>C (CSNK1E) | ||
| ENST00000612795.1:n.621T>C (CSNK1E) | ||
| NM_001289912.1:c.827T>C (TPTEP2-CSNK1E) | NP_001276841.1:p.Leu276Pro | |
| NM_001894.4:c.827T>C (CSNK1E) | NP_001885.1:p.Leu276Pro | |
| NM_152221.2:c.827T>C (CSNK1E) | NP_689407.1:p.Leu276Pro | |
| NM_152221.3:c.827T>C (CSNK1E) MANE Select | NP_689407.1:p.Leu276Pro | |
| NM_001289912.2:c.827T>C (TPTEP2-CSNK1E) | NP_001276841.1:p.Leu276Pro | |
| NM_001894.5:c.827T>C (CSNK1E) | NP_001885.1:p.Leu276Pro |