Canonical Allele Identifier: CA8052356
Community Standard Title: NM_001378743.1(CYLD):c.1172T>C (p.Ile391Thr)
Gene: CYLD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50779698T>C , CM000678.2:g.50779698T>C GRCh38
NC_000016.9:g.50813609T>C , CM000678.1:g.50813609T>C GRCh37
NC_000016.8:g.49371110T>C NCBI36
NG_012061.1:g.42649T>C , LRG_491:g.42649T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001378743.1:c.1172T>C MANE Select NP_001365672.1:p.Ile391Thr
ENST00000427738.8:c.1172T>C MANE Select ENSP00000392025.3:p.Ile391Thr
NM_001042355.1:c.1163T>C NP_001035814.1:p.Ile388Thr
NM_001042355.2:c.1163T>C NP_001035814.1:p.Ile388Thr
NM_001042412.1:c.1163T>C NP_001035877.1:p.Ile388Thr
NM_001042412.2:c.1163T>C NP_001035877.1:p.Ile388Thr
NM_001042412.3:c.1163T>C NP_001035877.1:p.Ile388Thr
NM_001378744.1:c.1163T>C NP_001365673.1:p.Ile388Thr
NM_001378745.1:c.1163T>C NP_001365674.1:p.Ile388Thr
NM_001378746.1:c.1163T>C NP_001365675.1:p.Ile388Thr
NM_001378747.1:c.1163T>C NP_001365676.1:p.Ile388Thr
NM_001378748.1:c.1163T>C NP_001365677.1:p.Ile388Thr
NM_001378749.1:c.1163T>C NP_001365678.1:p.Ile388Thr
NM_001378750.1:c.1163T>C NP_001365679.1:p.Ile388Thr
NM_001378751.1:c.1133T>C NP_001365680.1:p.Ile378Thr
NM_001378752.1:c.1133T>C NP_001365681.1:p.Ile378Thr
NM_001378753.1:c.1133T>C NP_001365682.1:p.Ile378Thr
NM_001378754.1:c.497T>C NP_001365683.1:p.Ile166Thr
NM_001378755.1:c.497T>C NP_001365684.1:p.Ile166Thr
NM_015247.2:c.1172T>C , LRG_491t1:c.1172T>C NP_056062.1:p.Ile391Thr
NM_015247.3:c.1172T>C NP_056062.1:p.Ile391Thr
NR_166071.1:n.1427T>C
ENST00000311559.13:c.1172T>C ENSP00000308928.9:p.Ile391Thr
ENST00000398568.6:c.1163T>C ENSP00000381574.2:p.Ile388Thr
ENST00000427738.7:c.1172T>C ENSP00000392025.3:p.Ile391Thr
ENST00000563629.1:n.899T>C
ENST00000564326.5:c.1163T>C ENSP00000454515.1:p.Ile388Thr
ENST00000566206.5:c.1163T>C ENSP00000462134.1:p.Ile388Thr
ENST00000568704.2:c.1129+1757T>C ENSP00000456488.2:n.1129+1757T>C
ENST00000569418.5:c.1163T>C ENSP00000457576.1:p.Ile388Thr
ENST00000569891.5:n.1558T>C
XM_005255812.2:c.1163T>C XP_005255869.1:p.Ile388Thr
XM_006721149.1:c.1163T>C XP_006721212.1:p.Ile388Thr
XM_011522906.1:c.1163T>C XP_011521208.1:p.Ile388Thr
XM_011522907.1:c.1163T>C XP_011521209.1:p.Ile388Thr
XM_011522907.2:c.1163T>C XP_011521209.1:p.Ile388Thr
XM_011522908.1:c.1133T>C XP_011521210.1:p.Ile378Thr
XM_011522909.1:c.1163T>C XP_011521211.1:p.Ile388Thr
XM_011522910.1:c.1163T>C XP_011521212.1:p.Ile388Thr
XM_011522911.1:c.1163T>C XP_011521213.1:p.Ile388Thr
XM_011522911.2:c.1163T>C XP_011521213.1:p.Ile388Thr
XM_017022977.1:c.1163T>C XP_016878466.1:p.Ile388Thr
XM_017022978.1:c.1163T>C XP_016878467.1:p.Ile388Thr
XM_017022979.1:c.1163T>C XP_016878468.1:p.Ile388Thr
XM_017022980.1:c.1163T>C XP_016878469.1:p.Ile388Thr
XM_017022981.2:c.1133T>C XP_016878470.1:p.Ile378Thr
XR_001751849.1:n.1456T>C
XR_933218.1:n.1456T>C