Canonical Allele Identifier: CA2221929653
Community Standard Title: NM_001378743.1(CYLD):c.1327C= (p.Gln443=)
Gene: CYLD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50779853C= , CM000678.2:g.50779853C= GRCh38
NC_000016.9:g.50813764C= , CM000678.1:g.50813764C= GRCh37
NC_000016.8:g.49371265C= NCBI36
NG_012061.1:g.42804C= , LRG_491:g.42804C=

Transcript Alleles

HGVS Amino-acid Change
NM_001378743.1:c.1327C= MANE Select NP_001365672.1:p.Gln443=
ENST00000427738.8:c.1327C= MANE Select ENSP00000392025.3:p.Gln443=
NM_001042355.1:c.1318C= NP_001035814.1:p.Gln440=
NM_001042355.2:c.1318C= NP_001035814.1:p.Gln440=
NM_001042412.1:c.1318C= NP_001035877.1:p.Gln440=
NM_001042412.2:c.1318C= NP_001035877.1:p.Gln440=
NM_001042412.3:c.1318C= NP_001035877.1:p.Gln440=
NM_001378744.1:c.1318C= NP_001365673.1:p.Gln440=
NM_001378745.1:c.1318C= NP_001365674.1:p.Gln440=
NM_001378746.1:c.1318C= NP_001365675.1:p.Gln440=
NM_001378747.1:c.1318C= NP_001365676.1:p.Gln440=
NM_001378748.1:c.1318C= NP_001365677.1:p.Gln440=
NM_001378749.1:c.1318C= NP_001365678.1:p.Gln440=
NM_001378750.1:c.1318C= NP_001365679.1:p.Gln440=
NM_001378751.1:c.1288C= NP_001365680.1:p.Gln430=
NM_001378752.1:c.1288C= NP_001365681.1:p.Gln430=
NM_001378753.1:c.1288C= NP_001365682.1:p.Gln430=
NM_001378754.1:c.652C= NP_001365683.1:p.Gln218=
NM_001378755.1:c.652C= NP_001365684.1:p.Gln218=
NM_015247.2:c.1327C= , LRG_491t1:c.1327C= NP_056062.1:p.Gln443=
NM_015247.3:c.1327C= NP_056062.1:p.Gln443=
NR_166071.1:n.1582C=
ENST00000311559.13:c.1327C= ENSP00000308928.9:p.Gln443=
ENST00000398568.6:c.1318C= ENSP00000381574.2:p.Gln440=
ENST00000427738.7:c.1327C= ENSP00000392025.3:p.Gln443=
ENST00000563629.1:n.1054C=
ENST00000564326.5:c.1318C= ENSP00000454515.1:p.Gln440=
ENST00000566206.5:c.1318C= ENSP00000462134.1:p.Gln440=
ENST00000568704.2:c.1129+1912C= ENSP00000456488.2:n.1129+1912C=
ENST00000569418.5:c.1318C= ENSP00000457576.1:p.Gln440=
ENST00000569891.5:n.1713C=
XM_005255812.2:c.1318C= XP_005255869.1:p.Gln440=
XM_006721149.1:c.1318C= XP_006721212.1:p.Gln440=
XM_011522906.1:c.1318C= XP_011521208.1:p.Gln440=
XM_011522907.1:c.1318C= XP_011521209.1:p.Gln440=
XM_011522907.2:c.1318C= XP_011521209.1:p.Gln440=
XM_011522908.1:c.1288C= XP_011521210.1:p.Gln430=
XM_011522909.1:c.1318C= XP_011521211.1:p.Gln440=
XM_011522910.1:c.1318C= XP_011521212.1:p.Gln440=
XM_011522911.1:c.1318C= XP_011521213.1:p.Gln440=
XM_011522911.2:c.1318C= XP_011521213.1:p.Gln440=
XM_017022977.1:c.1318C= XP_016878466.1:p.Gln440=
XM_017022978.1:c.1318C= XP_016878467.1:p.Gln440=
XM_017022979.1:c.1318C= XP_016878468.1:p.Gln440=
XM_017022980.1:c.1318C= XP_016878469.1:p.Gln440=
XM_017022981.2:c.1288C= XP_016878470.1:p.Gln430=
XR_001751849.1:n.1611C=
XR_933218.1:n.1611C=