Linked Data
ClinVar Variation Id:
886479
dbSNP Id:
rs1445709488
gnomAD v3:
16-50742113-C-G
gnomAD v4:
16-50742113-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50742113C>G , CM000678.2:g.50742113C>G | GRCh38 |
| NC_000016.9:g.50776024C>G , CM000678.1:g.50776024C>G | GRCh37 |
| NC_000016.8:g.49333525C>G | NCBI36 |
| NG_012061.1:g.5064C>G , LRG_491:g.5064C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427738.8:c.-215C>G (CYLD) MANE Select | ENSP00000392025.3:n.-215C>G | |
| ENST00000311559.13:c.-352C>G (CYLD) | ENSP00000308928.9:n.-352C>G | |
| ENST00000564326.5:c.-162C>G (CYLD) | ENSP00000454515.1:n.-162C>G | |
| ENST00000566206.5:c.-223C>G (CYLD) | ENSP00000462134.1:n.-223C>G | |
| ENST00000566679.6:c.-242C>G (CYLD) | ENSP00000456912.2:n.-242C>G | |
| ENST00000569418.5:c.-215C>G (CYLD) | ENSP00000457576.1:n.-215C>G | |
| ENST00000569681.5:c.-215C>G (CYLD) | ENSP00000457108.1:n.-215C>G | |
| ENST00000569891.5:n.44C>G (CYLD) | ||
| NM_001042355.1:c.-215C>G (CYLD) | NP_001035814.1:n.-215C>G | |
| NM_015247.2:c.-352C>G , LRG_491t1:c.-352C>G (CYLD) | NP_056062.1:n.-352C>G | |
| XM_005255812.2:c.-352C>G (CYLD) | XP_005255869.1:n.-352C>G | |
| XR_933543.1:n.62+558G>C (CYLD-AS1) | ||
| XR_933544.1:n.85+558G>C (CYLD-AS1) | ||
| XR_933545.1:n.85+558G>C (CYLD-AS1) | ||
| XR_933546.1:n.85+558G>C (CYLD-AS1) | ||
| XR_933547.1:n.145+558G>C (CYLD-AS1) | ||
| XR_933548.1:n.145+558G>C (CYLD-AS1) | ||
| XM_017022979.1:c.-242C>G (CYLD) | XP_016878468.1:n.-242C>G | |
| XM_017022981.2:c.-215C>G (CYLD) | XP_016878470.1:n.-215C>G | |
| XR_001752046.2:n.199+558G>C (CYLD-AS1) | ||
| NM_001042355.2:c.-215C>G (CYLD) | NP_001035814.1:n.-215C>G | |
| NM_001042412.2:c.-307C>G (CYLD) | NP_001035877.1:n.-307C>G | |
| NM_001378743.1:c.-215C>G (CYLD) MANE Select | NP_001365672.1:n.-215C>G | |
| NM_001378744.1:c.-242C>G (CYLD) | NP_001365673.1:n.-242C>G | |
| NM_001378745.1:c.-352C>G (CYLD) | NP_001365674.1:n.-352C>G | |
| NM_001378749.1:c.-142C>G (CYLD) | NP_001365678.1:n.-142C>G | |
| NM_001378751.1:c.-215C>G (CYLD) | NP_001365680.1:n.-215C>G | |
| NM_001378753.1:c.-242C>G (CYLD) | NP_001365682.1:n.-242C>G | |
| NM_001378754.1:c.-877C>G (CYLD) | NP_001365683.1:n.-877C>G | |
| NM_015247.3:c.-352C>G (CYLD) | NP_056062.1:n.-352C>G |