Canonical Allele Identifier: CA214926

Gene: CYLD CYLD-AS2

Linked Data

• ClinVar Variation Id: 5258
• ClinVar RCV Id: RCV000005571 ; RCV000005572
• dbSNP Id: rs121908389
• MyVariant Identifiers: chr16:g.50825600A>G (hg19) ; chr16:g.50791689A>G (hg38)
• PubMed: PMID:14632188

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50791689A>G , CM000678.2:g.50791689A>G	GRCh38
NC_000016.9:g.50825600A>G , CM000678.1:g.50825600A>G	GRCh37
NC_000016.8:g.49383101A>G	NCBI36
NG_012061.1:g.54640A>G , LRG_491:g.54640A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427738.8:c.2240A>G (CYLD) MANE Select	ENSP00000392025.3:p.Glu747Gly
ENST00000311559.13:c.2240A>G (CYLD)	ENSP00000308928.9:p.Glu747Gly
ENST00000398568.6:c.2231A>G (CYLD)	ENSP00000381574.2:p.Glu744Gly
ENST00000427738.7:c.2240A>G (CYLD)	ENSP00000392025.3:p.Glu747Gly
ENST00000564326.5:c.2231A>G (CYLD)	ENSP00000454515.1:p.Glu744Gly
ENST00000566206.5:c.2231A>G (CYLD)	ENSP00000462134.1:p.Glu744Gly
ENST00000568704.2:c.1685A>G (CYLD)	ENSP00000456488.2:p.Glu562Gly
ENST00000569418.5:c.2231A>G (CYLD)	ENSP00000457576.1:p.Glu744Gly
NM_001042355.1:c.2231A>G (CYLD)	NP_001035814.1:p.Glu744Gly
NM_001042412.1:c.2231A>G (CYLD)	NP_001035877.1:p.Glu744Gly
NM_015247.2:c.2240A>G , LRG_491t1:c.2240A>G (CYLD)	NP_056062.1:p.Glu747Gly
XM_005255812.2:c.2231A>G (CYLD)	XP_005255869.1:p.Glu744Gly
XM_006721149.1:c.2231A>G (CYLD)	XP_006721212.1:p.Glu744Gly
XM_011522906.1:c.2231A>G (CYLD)	XP_011521208.1:p.Glu744Gly
XM_011522907.1:c.2231A>G (CYLD)	XP_011521209.1:p.Glu744Gly
XM_011522908.1:c.2201A>G (CYLD)	XP_011521210.1:p.Glu734Gly
XM_011522909.1:c.2231A>G (CYLD)	XP_011521211.1:p.Glu744Gly
XM_011522910.1:c.2231A>G (CYLD)	XP_011521212.1:p.Glu744Gly
XR_933218.1:n.2524A>G (CYLD)
XR_933542.1:n.2451-7500T>C (CYLD-AS2)
XM_011522907.2:c.2231A>G (CYLD)	XP_011521209.1:p.Glu744Gly
XM_017022977.1:c.2231A>G (CYLD)	XP_016878466.1:p.Glu744Gly
XM_017022978.1:c.2231A>G (CYLD)	XP_016878467.1:p.Glu744Gly
XM_017022979.1:c.2231A>G (CYLD)	XP_016878468.1:p.Glu744Gly
XM_017022980.1:c.2231A>G (CYLD)	XP_016878469.1:p.Glu744Gly
XM_017022981.2:c.2201A>G (CYLD)	XP_016878470.1:p.Glu734Gly
XR_001751849.1:n.2358A>G (CYLD)
XR_933542.2:n.4188-7500T>C (CYLD-AS2)
NM_001042355.2:c.2231A>G (CYLD)	NP_001035814.1:p.Glu744Gly
NM_001042412.2:c.2231A>G (CYLD)	NP_001035877.1:p.Glu744Gly
NM_001042412.3:c.2231A>G (CYLD)	NP_001035877.1:p.Glu744Gly
NM_001378743.1:c.2240A>G (CYLD) MANE Select	NP_001365672.1:p.Glu747Gly
NM_001378744.1:c.2231A>G (CYLD)	NP_001365673.1:p.Glu744Gly
NM_001378745.1:c.2231A>G (CYLD)	NP_001365674.1:p.Glu744Gly
NM_001378746.1:c.2231A>G (CYLD)	NP_001365675.1:p.Glu744Gly
NM_001378747.1:c.2231A>G (CYLD)	NP_001365676.1:p.Glu744Gly
NM_001378748.1:c.2231A>G (CYLD)	NP_001365677.1:p.Glu744Gly
NM_001378749.1:c.2231A>G (CYLD)	NP_001365678.1:p.Glu744Gly
NM_001378750.1:c.2231A>G (CYLD)	NP_001365679.1:p.Glu744Gly
NM_001378751.1:c.2201A>G (CYLD)	NP_001365680.1:p.Glu734Gly
NM_001378752.1:c.2201A>G (CYLD)	NP_001365681.1:p.Glu734Gly
NM_001378753.1:c.2201A>G (CYLD)	NP_001365682.1:p.Glu734Gly
NM_001378754.1:c.1565A>G (CYLD)	NP_001365683.1:p.Glu522Gly
NM_001378755.1:c.1565A>G (CYLD)	NP_001365684.1:p.Glu522Gly
NM_015247.3:c.2240A>G (CYLD)	NP_056062.1:p.Glu747Gly
NR_166071.1:n.2329A>G (CYLD)