Canonical Allele Identifier: CA406900309

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310570G>T (hg19) ; chr19:g.49807313G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807313G>T , CM000681.2:g.49807313G>T	GRCh38
NC_000019.9:g.50310570G>T , CM000681.1:g.50310570G>T	GRCh37
NC_000019.8:g.55002382G>T	NCBI36
NG_032843.1:g.10998C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1095C>A MANE Select	ENSP00000313309.4:p.Cys365Ter
ENST00000313777.8:c.1095C>A	ENSP00000313309.4:p.Cys365Ter
ENST00000377092.8:c.*835C>A	ENSP00000366296.5:n.*835C>A
ENST00000525130.5:c.*749C>A	ENSP00000433492.1:n.*749C>A
ENST00000525370.5:c.*752C>A	ENSP00000431420.1:n.*752C>A
ENST00000528094.5:c.987C>A	ENSP00000435177.1:p.Cys329Ter
ENST00000529634.2:c.251C>A
ENST00000533418.5:c.945C>A	ENSP00000431731.1:p.Cys315Ter
NM_001171937.1:c.987C>A	NP_001165408.1:p.Cys329Ter
NM_025129.4:c.1095C>A	NP_079405.2:p.Cys365Ter
NR_033269.1:n.1214C>A
XM_006723399.2:c.*81C>A	XP_006723462.1:n.*81C>A
XM_011527339.1:c.1098C>A	XP_011525641.1:p.Cys366Ter
XM_011527340.1:c.948C>A	XP_011525642.1:p.Cys316Ter
XM_011527341.1:c.948C>A	XP_011525643.1:p.Cys316Ter
XM_011527342.1:c.927C>A	XP_011525644.1:p.Cys309Ter
XM_011527343.1:c.*81C>A	XP_011525645.1:n.*81C>A
XM_011527344.1:c.900C>A	XP_011525646.1:p.Cys300Ter
XM_011527345.1:c.798C>A	XP_011525647.1:p.Cys266Ter
XM_011527346.1:c.798C>A	XP_011525648.1:p.Cys266Ter
XM_011527347.1:c.798C>A	XP_011525649.1:p.Cys266Ter
XR_935862.1:n.1463C>A
NM_001352262.1:c.1098C>A	NP_001339191.1:p.Cys366Ter
NM_001363663.1:c.945C>A	NP_001350592.1:p.Cys315Ter
XM_006723399.3:c.*81C>A	XP_006723462.1:n.*81C>A
XM_011527341.2:c.948C>A	XP_011525643.1:p.Cys316Ter
XM_011527342.2:c.927C>A	XP_011525644.1:p.Cys309Ter
XM_017027321.1:c.795C>A	XP_016882810.1:p.Cys265Ter
XM_017027322.2:c.*81C>A	XP_016882811.1:n.*81C>A
XM_024451729.1:c.927C>A	XP_024307497.1:p.Cys309Ter
XM_024451730.1:c.924C>A	XP_024307498.1:p.Cys308Ter
XR_001753764.1:n.1870C>A
XR_001753765.1:n.1170C>A
XR_002958363.1:n.2121C>A
XR_002958364.1:n.1867C>A
XR_002958365.1:n.1760C>A
NM_001171937.2:c.987C>A	NP_001165408.1:p.Cys329Ter
NM_001352262.2:c.1098C>A	NP_001339191.1:p.Cys366Ter
NM_025129.5:c.1095C>A MANE Select	NP_079405.2:p.Cys365Ter
NR_033269.2:n.1196C>A