Canonical Allele Identifier: CA406900252

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310556C>T (hg19) ; chr19:g.49807299C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807299C>T , CM000681.2:g.49807299C>T	GRCh38
NC_000019.9:g.50310556C>T , CM000681.1:g.50310556C>T	GRCh37
NC_000019.8:g.55002368C>T	NCBI36
NG_032843.1:g.11012G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1109G>A MANE Select	ENSP00000313309.4:p.Gly370Glu
ENST00000313777.8:c.1109G>A	ENSP00000313309.4:p.Gly370Glu
ENST00000377092.8:c.*849G>A	ENSP00000366296.5:n.*849G>A
ENST00000525130.5:c.*763G>A	ENSP00000433492.1:n.*763G>A
ENST00000525370.5:c.*766G>A	ENSP00000431420.1:n.*766G>A
ENST00000528094.5:c.1001G>A	ENSP00000435177.1:p.Gly334Glu
ENST00000529634.2:c.265G>A
ENST00000533418.5:c.959G>A	ENSP00000431731.1:p.Gly320Glu
NM_001171937.1:c.1001G>A	NP_001165408.1:p.Gly334Glu
NM_025129.4:c.1109G>A	NP_079405.2:p.Gly370Glu
NR_033269.1:n.1228G>A
XM_006723399.2:c.*95G>A	XP_006723462.1:n.*95G>A
XM_011527339.1:c.1112G>A	XP_011525641.1:p.Gly371Glu
XM_011527340.1:c.962G>A	XP_011525642.1:p.Gly321Glu
XM_011527341.1:c.962G>A	XP_011525643.1:p.Gly321Glu
XM_011527342.1:c.941G>A	XP_011525644.1:p.Gly314Glu
XM_011527343.1:c.*95G>A	XP_011525645.1:n.*95G>A
XM_011527344.1:c.914G>A	XP_011525646.1:p.Gly305Glu
XM_011527345.1:c.812G>A	XP_011525647.1:p.Gly271Glu
XM_011527346.1:c.812G>A	XP_011525648.1:p.Gly271Glu
XM_011527347.1:c.812G>A	XP_011525649.1:p.Gly271Glu
XR_935862.1:n.1477G>A
NM_001352262.1:c.1112G>A	NP_001339191.1:p.Gly371Glu
NM_001363663.1:c.959G>A	NP_001350592.1:p.Gly320Glu
XM_006723399.3:c.*95G>A	XP_006723462.1:n.*95G>A
XM_011527341.2:c.962G>A	XP_011525643.1:p.Gly321Glu
XM_011527342.2:c.941G>A	XP_011525644.1:p.Gly314Glu
XM_017027321.1:c.809G>A	XP_016882810.1:p.Gly270Glu
XM_017027322.2:c.*95G>A	XP_016882811.1:n.*95G>A
XM_024451729.1:c.941G>A	XP_024307497.1:p.Gly314Glu
XM_024451730.1:c.938G>A	XP_024307498.1:p.Gly313Glu
XR_001753764.1:n.1884G>A
XR_001753765.1:n.1184G>A
XR_002958363.1:n.2135G>A
XR_002958364.1:n.1881G>A
XR_002958365.1:n.1774G>A
NM_001171937.2:c.1001G>A	NP_001165408.1:p.Gly334Glu
NM_001352262.2:c.1112G>A	NP_001339191.1:p.Gly371Glu
NM_025129.5:c.1109G>A MANE Select	NP_079405.2:p.Gly370Glu
NR_033269.2:n.1210G>A