Canonical Allele Identifier: CA406900461

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310610G>T (hg19) ; chr19:g.49807353G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807353G>T , CM000681.2:g.49807353G>T	GRCh38
NC_000019.9:g.50310610G>T , CM000681.1:g.50310610G>T	GRCh37
NC_000019.8:g.55002422G>T	NCBI36
NG_032843.1:g.10958C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313777.9:c.1055C>A MANE Select	ENSP00000313309.4:p.Thr352Lys
ENST00000313777.8:c.1055C>A	ENSP00000313309.4:p.Thr352Lys
ENST00000377092.8:c.*795C>A	ENSP00000366296.5:n.*795C>A
ENST00000525130.5:c.*709C>A	ENSP00000433492.1:n.*709C>A
ENST00000525370.5:c.*712C>A	ENSP00000431420.1:n.*712C>A
ENST00000528094.5:c.947C>A	ENSP00000435177.1:p.Thr316Lys
ENST00000529634.2:c.211C>A
ENST00000533418.5:c.905C>A	ENSP00000431731.1:p.Thr302Lys
NM_001171937.1:c.947C>A	NP_001165408.1:p.Thr316Lys
NM_025129.4:c.1055C>A	NP_079405.2:p.Thr352Lys
NR_033269.1:n.1174C>A
XM_006723399.2:c.*41C>A	XP_006723462.1:n.*41C>A
XM_011527339.1:c.1058C>A	XP_011525641.1:p.Thr353Lys
XM_011527340.1:c.908C>A	XP_011525642.1:p.Thr303Lys
XM_011527341.1:c.908C>A	XP_011525643.1:p.Thr303Lys
XM_011527342.1:c.887C>A	XP_011525644.1:p.Thr296Lys
XM_011527343.1:c.*41C>A	XP_011525645.1:n.*41C>A
XM_011527344.1:c.860C>A	XP_011525646.1:p.Thr287Lys
XM_011527345.1:c.758C>A	XP_011525647.1:p.Thr253Lys
XM_011527346.1:c.758C>A	XP_011525648.1:p.Thr253Lys
XM_011527347.1:c.758C>A	XP_011525649.1:p.Thr253Lys
XR_935862.1:n.1423C>A
NM_001352262.1:c.1058C>A	NP_001339191.1:p.Thr353Lys
NM_001363663.1:c.905C>A	NP_001350592.1:p.Thr302Lys
XM_006723399.3:c.*41C>A	XP_006723462.1:n.*41C>A
XM_011527341.2:c.908C>A	XP_011525643.1:p.Thr303Lys
XM_011527342.2:c.887C>A	XP_011525644.1:p.Thr296Lys
XM_017027321.1:c.755C>A	XP_016882810.1:p.Thr252Lys
XM_017027322.2:c.*41C>A	XP_016882811.1:n.*41C>A
XM_024451729.1:c.887C>A	XP_024307497.1:p.Thr296Lys
XM_024451730.1:c.884C>A	XP_024307498.1:p.Thr295Lys
XR_001753764.1:n.1830C>A
XR_001753765.1:n.1130C>A
XR_002958363.1:n.2081C>A
XR_002958364.1:n.1827C>A
XR_002958365.1:n.1720C>A
NM_001171937.2:c.947C>A	NP_001165408.1:p.Thr316Lys
NM_001352262.2:c.1058C>A	NP_001339191.1:p.Thr353Lys
NM_025129.5:c.1055C>A MANE Select	NP_079405.2:p.Thr352Lys
NR_033269.2:n.1156C>A