Canonical Allele Identifier: CA406900405

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310596A>C (hg19) ; chr19:g.49807339A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807339A>C , CM000681.2:g.49807339A>C	GRCh38
NC_000019.9:g.50310596A>C , CM000681.1:g.50310596A>C	GRCh37
NC_000019.8:g.55002408A>C	NCBI36
NG_032843.1:g.10972T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1069T>G MANE Select	ENSP00000313309.4:p.Tyr357Asp
ENST00000313777.8:c.1069T>G	ENSP00000313309.4:p.Tyr357Asp
ENST00000377092.8:c.*809T>G	ENSP00000366296.5:n.*809T>G
ENST00000525130.5:c.*723T>G	ENSP00000433492.1:n.*723T>G
ENST00000525370.5:c.*726T>G	ENSP00000431420.1:n.*726T>G
ENST00000528094.5:c.961T>G	ENSP00000435177.1:p.Tyr321Asp
ENST00000529634.2:c.225T>G
ENST00000533418.5:c.919T>G	ENSP00000431731.1:p.Tyr307Asp
NM_001171937.1:c.961T>G	NP_001165408.1:p.Tyr321Asp
NM_025129.4:c.1069T>G	NP_079405.2:p.Tyr357Asp
NR_033269.1:n.1188T>G
XM_006723399.2:c.*55T>G	XP_006723462.1:n.*55T>G
XM_011527339.1:c.1072T>G	XP_011525641.1:p.Tyr358Asp
XM_011527340.1:c.922T>G	XP_011525642.1:p.Tyr308Asp
XM_011527341.1:c.922T>G	XP_011525643.1:p.Tyr308Asp
XM_011527342.1:c.901T>G	XP_011525644.1:p.Tyr301Asp
XM_011527343.1:c.*55T>G	XP_011525645.1:n.*55T>G
XM_011527344.1:c.874T>G	XP_011525646.1:p.Tyr292Asp
XM_011527345.1:c.772T>G	XP_011525647.1:p.Tyr258Asp
XM_011527346.1:c.772T>G	XP_011525648.1:p.Tyr258Asp
XM_011527347.1:c.772T>G	XP_011525649.1:p.Tyr258Asp
XR_935862.1:n.1437T>G
NM_001352262.1:c.1072T>G	NP_001339191.1:p.Tyr358Asp
NM_001363663.1:c.919T>G	NP_001350592.1:p.Tyr307Asp
XM_006723399.3:c.*55T>G	XP_006723462.1:n.*55T>G
XM_011527341.2:c.922T>G	XP_011525643.1:p.Tyr308Asp
XM_011527342.2:c.901T>G	XP_011525644.1:p.Tyr301Asp
XM_017027321.1:c.769T>G	XP_016882810.1:p.Tyr257Asp
XM_017027322.2:c.*55T>G	XP_016882811.1:n.*55T>G
XM_024451729.1:c.901T>G	XP_024307497.1:p.Tyr301Asp
XM_024451730.1:c.898T>G	XP_024307498.1:p.Tyr300Asp
XR_001753764.1:n.1844T>G
XR_001753765.1:n.1144T>G
XR_002958363.1:n.2095T>G
XR_002958364.1:n.1841T>G
XR_002958365.1:n.1734T>G
NM_001171937.2:c.961T>G	NP_001165408.1:p.Tyr321Asp
NM_001352262.2:c.1072T>G	NP_001339191.1:p.Tyr358Asp
NM_025129.5:c.1069T>G MANE Select	NP_079405.2:p.Tyr357Asp
NR_033269.2:n.1170T>G