Linked Data
ClinVar Variation Id:
319549
dbSNP Id:
rs555603514
gnomAD v2:
16-50833567-T-C
gnomAD v3:
16-50799656-T-C
gnomAD v4:
16-50799656-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50799656T>C , CM000678.2:g.50799656T>C | GRCh38 |
| NC_000016.9:g.50833567T>C , CM000678.1:g.50833567T>C | GRCh37 |
| NC_000016.8:g.49391068T>C | NCBI36 |
| NG_012061.1:g.62607T>C , LRG_491:g.62607T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427738.8:c.*3148T>C (CYLD) MANE Select | ENSP00000392025.3:n.*3148T>C | |
| ENST00000427738.7:c.*3148T>C (CYLD) | ENSP00000392025.3:n.*3148T>C | |
| ENST00000566024.1:c.178-1164T>C (CYLD) | ||
| NM_001042355.1:c.*3148T>C (CYLD) | NP_001035814.1:n.*3148T>C | |
| NM_001042412.1:c.*3148T>C (CYLD) | NP_001035877.1:n.*3148T>C | |
| NM_015247.2:c.*3148T>C , LRG_491t1:c.*3148T>C (CYLD) | NP_056062.1:n.*3148T>C | |
| XM_005255812.2:c.*3148T>C (CYLD) | XP_005255869.1:n.*3148T>C | |
| XM_006721149.1:c.*3148T>C (CYLD) | XP_006721212.1:n.*3148T>C | |
| XM_011522906.1:c.*3148T>C (CYLD) | XP_011521208.1:n.*3148T>C | |
| XM_011522907.1:c.*3148T>C (CYLD) | XP_011521209.1:n.*3148T>C | |
| XM_011522908.1:c.*3148T>C (CYLD) | XP_011521210.1:n.*3148T>C | |
| XM_011522909.1:c.2678-1164T>C (CYLD) | XP_011521211.1:n.2678-1164T>C | |
| XM_011522910.1:c.2678-1164T>C (CYLD) | XP_011521212.1:n.2678-1164T>C | |
| XR_933218.1:n.6303T>C (CYLD) | ||
| XR_933542.1:n.2450+2467A>G (CYLD-AS2) | ||
| XM_011522907.2:c.*3148T>C (CYLD) | XP_011521209.1:n.*3148T>C | |
| XM_017022977.1:c.*3148T>C (CYLD) | XP_016878466.1:n.*3148T>C | |
| XM_017022978.1:c.*3148T>C (CYLD) | XP_016878467.1:n.*3148T>C | |
| XM_017022979.1:c.*3148T>C (CYLD) | XP_016878468.1:n.*3148T>C | |
| XM_017022980.1:c.*3148T>C (CYLD) | XP_016878469.1:n.*3148T>C | |
| XM_017022981.2:c.*3148T>C (CYLD) | XP_016878470.1:n.*3148T>C | |
| XR_001751849.1:n.6137T>C (CYLD) | ||
| XR_933542.2:n.4187+2467A>G (CYLD-AS2) | ||
| NM_001042355.2:c.*3148T>C (CYLD) | NP_001035814.1:n.*3148T>C | |
| NM_001042412.2:c.*3148T>C (CYLD) | NP_001035877.1:n.*3148T>C | |
| NM_001042412.3:c.*3148T>C (CYLD) | NP_001035877.1:n.*3148T>C | |
| NM_001378743.1:c.*3148T>C (CYLD) MANE Select | NP_001365672.1:n.*3148T>C | |
| NM_001378744.1:c.*3148T>C (CYLD) | NP_001365673.1:n.*3148T>C | |
| NM_001378745.1:c.*3148T>C (CYLD) | NP_001365674.1:n.*3148T>C | |
| NM_001378746.1:c.*3148T>C (CYLD) | NP_001365675.1:n.*3148T>C | |
| NM_001378747.1:c.*3148T>C (CYLD) | NP_001365676.1:n.*3148T>C | |
| NM_001378748.1:c.*3148T>C (CYLD) | NP_001365677.1:n.*3148T>C | |
| NM_001378749.1:c.*3148T>C (CYLD) | NP_001365678.1:n.*3148T>C | |
| NM_001378750.1:c.*3148T>C (CYLD) | NP_001365679.1:n.*3148T>C | |
| NM_001378751.1:c.*3148T>C (CYLD) | NP_001365680.1:n.*3148T>C | |
| NM_001378752.1:c.*3148T>C (CYLD) | NP_001365681.1:n.*3148T>C | |
| NM_001378753.1:c.*3148T>C (CYLD) | NP_001365682.1:n.*3148T>C | |
| NM_001378754.1:c.*3148T>C (CYLD) | NP_001365683.1:n.*3148T>C | |
| NM_001378755.1:c.*3148T>C (CYLD) | NP_001365684.1:n.*3148T>C | |
| NM_015247.3:c.*3148T>C (CYLD) | NP_056062.1:n.*3148T>C | |
| NR_166071.1:n.6108T>C (CYLD) |