Canonical Allele Identifier: CA406900487

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310615C>G (hg19) ; chr19:g.49807358C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807358C>G , CM000681.2:g.49807358C>G	GRCh38
NC_000019.9:g.50310615C>G , CM000681.1:g.50310615C>G	GRCh37
NC_000019.8:g.55002427C>G	NCBI36
NG_032843.1:g.10953G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000313777.9:c.1050G>C MANE Select	ENSP00000313309.4:p.Glu350Asp
ENST00000313777.8:c.1050G>C	ENSP00000313309.4:p.Glu350Asp
ENST00000377092.8:c.*790G>C	ENSP00000366296.5:n.*790G>C
ENST00000525130.5:c.*704G>C	ENSP00000433492.1:n.*704G>C
ENST00000525370.5:c.*707G>C	ENSP00000431420.1:n.*707G>C
ENST00000528094.5:c.942G>C	ENSP00000435177.1:p.Glu314Asp
ENST00000529634.2:c.206G>C
ENST00000533418.5:c.900G>C	ENSP00000431731.1:p.Glu300Asp
NM_001171937.1:c.942G>C	NP_001165408.1:p.Glu314Asp
NM_025129.4:c.1050G>C	NP_079405.2:p.Glu350Asp
NR_033269.1:n.1169G>C
XM_006723399.2:c.*36G>C	XP_006723462.1:n.*36G>C
XM_011527339.1:c.1053G>C	XP_011525641.1:p.Glu351Asp
XM_011527340.1:c.903G>C	XP_011525642.1:p.Glu301Asp
XM_011527341.1:c.903G>C	XP_011525643.1:p.Glu301Asp
XM_011527342.1:c.882G>C	XP_011525644.1:p.Glu294Asp
XM_011527343.1:c.*36G>C	XP_011525645.1:n.*36G>C
XM_011527344.1:c.855G>C	XP_011525646.1:p.Glu285Asp
XM_011527345.1:c.753G>C	XP_011525647.1:p.Glu251Asp
XM_011527346.1:c.753G>C	XP_011525648.1:p.Glu251Asp
XM_011527347.1:c.753G>C	XP_011525649.1:p.Glu251Asp
XR_935862.1:n.1418G>C
NM_001352262.1:c.1053G>C	NP_001339191.1:p.Glu351Asp
NM_001363663.1:c.900G>C	NP_001350592.1:p.Glu300Asp
XM_006723399.3:c.*36G>C	XP_006723462.1:n.*36G>C
XM_011527341.2:c.903G>C	XP_011525643.1:p.Glu301Asp
XM_011527342.2:c.882G>C	XP_011525644.1:p.Glu294Asp
XM_017027321.1:c.750G>C	XP_016882810.1:p.Glu250Asp
XM_017027322.2:c.*36G>C	XP_016882811.1:n.*36G>C
XM_024451729.1:c.882G>C	XP_024307497.1:p.Glu294Asp
XM_024451730.1:c.879G>C	XP_024307498.1:p.Glu293Asp
XR_001753764.1:n.1825G>C
XR_001753765.1:n.1125G>C
XR_002958363.1:n.2076G>C
XR_002958364.1:n.1822G>C
XR_002958365.1:n.1715G>C
NM_001171937.2:c.942G>C	NP_001165408.1:p.Glu314Asp
NM_001352262.2:c.1053G>C	NP_001339191.1:p.Glu351Asp
NM_025129.5:c.1050G>C MANE Select	NP_079405.2:p.Glu350Asp
NR_033269.2:n.1151G>C