Canonical Allele Identifier: CA406900489

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310616T>A (hg19) ; chr19:g.49807359T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807359T>A , CM000681.2:g.49807359T>A	GRCh38
NC_000019.9:g.50310616T>A , CM000681.1:g.50310616T>A	GRCh37
NC_000019.8:g.55002428T>A	NCBI36
NG_032843.1:g.10952A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000313777.9:c.1049A>T MANE Select	ENSP00000313309.4:p.Glu350Val
ENST00000313777.8:c.1049A>T	ENSP00000313309.4:p.Glu350Val
ENST00000377092.8:c.*789A>T	ENSP00000366296.5:n.*789A>T
ENST00000525130.5:c.*703A>T	ENSP00000433492.1:n.*703A>T
ENST00000525370.5:c.*706A>T	ENSP00000431420.1:n.*706A>T
ENST00000528094.5:c.941A>T	ENSP00000435177.1:p.Glu314Val
ENST00000529634.2:c.205A>T
ENST00000533418.5:c.899A>T	ENSP00000431731.1:p.Glu300Val
NM_001171937.1:c.941A>T	NP_001165408.1:p.Glu314Val
NM_025129.4:c.1049A>T	NP_079405.2:p.Glu350Val
NR_033269.1:n.1168A>T
XM_006723399.2:c.*35A>T	XP_006723462.1:n.*35A>T
XM_011527339.1:c.1052A>T	XP_011525641.1:p.Glu351Val
XM_011527340.1:c.902A>T	XP_011525642.1:p.Glu301Val
XM_011527341.1:c.902A>T	XP_011525643.1:p.Glu301Val
XM_011527342.1:c.881A>T	XP_011525644.1:p.Glu294Val
XM_011527343.1:c.*35A>T	XP_011525645.1:n.*35A>T
XM_011527344.1:c.854A>T	XP_011525646.1:p.Glu285Val
XM_011527345.1:c.752A>T	XP_011525647.1:p.Glu251Val
XM_011527346.1:c.752A>T	XP_011525648.1:p.Glu251Val
XM_011527347.1:c.752A>T	XP_011525649.1:p.Glu251Val
XR_935862.1:n.1417A>T
NM_001352262.1:c.1052A>T	NP_001339191.1:p.Glu351Val
NM_001363663.1:c.899A>T	NP_001350592.1:p.Glu300Val
XM_006723399.3:c.*35A>T	XP_006723462.1:n.*35A>T
XM_011527341.2:c.902A>T	XP_011525643.1:p.Glu301Val
XM_011527342.2:c.881A>T	XP_011525644.1:p.Glu294Val
XM_017027321.1:c.749A>T	XP_016882810.1:p.Glu250Val
XM_017027322.2:c.*35A>T	XP_016882811.1:n.*35A>T
XM_024451729.1:c.881A>T	XP_024307497.1:p.Glu294Val
XM_024451730.1:c.878A>T	XP_024307498.1:p.Glu293Val
XR_001753764.1:n.1824A>T
XR_001753765.1:n.1124A>T
XR_002958363.1:n.2075A>T
XR_002958364.1:n.1821A>T
XR_002958365.1:n.1714A>T
NM_001171937.2:c.941A>T	NP_001165408.1:p.Glu314Val
NM_001352262.2:c.1052A>T	NP_001339191.1:p.Glu351Val
NM_025129.5:c.1049A>T MANE Select	NP_079405.2:p.Glu350Val
NR_033269.2:n.1150A>T