Canonical Allele Identifier: CA406900495

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310617C>A (hg19) ; chr19:g.49807360C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807360C>A , CM000681.2:g.49807360C>A	GRCh38
NC_000019.9:g.50310617C>A , CM000681.1:g.50310617C>A	GRCh37
NC_000019.8:g.55002429C>A	NCBI36
NG_032843.1:g.10951G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1048G>T MANE Select	ENSP00000313309.4:p.Glu350Ter
ENST00000313777.8:c.1048G>T	ENSP00000313309.4:p.Glu350Ter
ENST00000377092.8:c.*788G>T	ENSP00000366296.5:n.*788G>T
ENST00000525130.5:c.*702G>T	ENSP00000433492.1:n.*702G>T
ENST00000525370.5:c.*705G>T	ENSP00000431420.1:n.*705G>T
ENST00000528094.5:c.940G>T	ENSP00000435177.1:p.Glu314Ter
ENST00000529634.2:c.204G>T
ENST00000533418.5:c.898G>T	ENSP00000431731.1:p.Glu300Ter
NM_001171937.1:c.940G>T	NP_001165408.1:p.Glu314Ter
NM_025129.4:c.1048G>T	NP_079405.2:p.Glu350Ter
NR_033269.1:n.1167G>T
XM_006723399.2:c.*34G>T	XP_006723462.1:n.*34G>T
XM_011527339.1:c.1051G>T	XP_011525641.1:p.Glu351Ter
XM_011527340.1:c.901G>T	XP_011525642.1:p.Glu301Ter
XM_011527341.1:c.901G>T	XP_011525643.1:p.Glu301Ter
XM_011527342.1:c.880G>T	XP_011525644.1:p.Glu294Ter
XM_011527343.1:c.*34G>T	XP_011525645.1:n.*34G>T
XM_011527344.1:c.853G>T	XP_011525646.1:p.Glu285Ter
XM_011527345.1:c.751G>T	XP_011525647.1:p.Glu251Ter
XM_011527346.1:c.751G>T	XP_011525648.1:p.Glu251Ter
XM_011527347.1:c.751G>T	XP_011525649.1:p.Glu251Ter
XR_935862.1:n.1416G>T
NM_001352262.1:c.1051G>T	NP_001339191.1:p.Glu351Ter
NM_001363663.1:c.898G>T	NP_001350592.1:p.Glu300Ter
XM_006723399.3:c.*34G>T	XP_006723462.1:n.*34G>T
XM_011527341.2:c.901G>T	XP_011525643.1:p.Glu301Ter
XM_011527342.2:c.880G>T	XP_011525644.1:p.Glu294Ter
XM_017027321.1:c.748G>T	XP_016882810.1:p.Glu250Ter
XM_017027322.2:c.*34G>T	XP_016882811.1:n.*34G>T
XM_024451729.1:c.880G>T	XP_024307497.1:p.Glu294Ter
XM_024451730.1:c.877G>T	XP_024307498.1:p.Glu293Ter
XR_001753764.1:n.1823G>T
XR_001753765.1:n.1123G>T
XR_002958363.1:n.2074G>T
XR_002958364.1:n.1820G>T
XR_002958365.1:n.1713G>T
NM_001171937.2:c.940G>T	NP_001165408.1:p.Glu314Ter
NM_001352262.2:c.1051G>T	NP_001339191.1:p.Glu351Ter
NM_025129.5:c.1048G>T MANE Select	NP_079405.2:p.Glu350Ter
NR_033269.2:n.1149G>T