Canonical Allele Identifier: CA9584281

Gene: FUZ

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49808587G>A , CM000681.2:g.49808587G>A	GRCh38
NC_000019.9:g.50311844G>A , CM000681.1:g.50311844G>A	GRCh37
NC_000019.8:g.55003656G>A	NCBI36
NG_032843.1:g.9724C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025129.5:c.945C>T MANE Select	NP_079405.2:p.Pro315=
ENST00000313777.9:c.945C>T MANE Select	ENSP00000313309.4:p.Pro315=
NM_001171937.1:c.837C>T	NP_001165408.1:p.Pro279=
NM_001171937.2:c.837C>T	NP_001165408.1:p.Pro279=
NM_001352262.1:c.945C>T	NP_001339191.1:p.Pro315=
NM_001352262.2:c.945C>T	NP_001339191.1:p.Pro315=
NM_001363663.1:c.795C>T	NP_001350592.1:p.Pro265=
NM_025129.4:c.945C>T	NP_079405.2:p.Pro315=
NR_033269.1:n.1064C>T
NR_033269.2:n.1046C>T
ENST00000313777.8:c.945C>T	ENSP00000313309.4:p.Pro315=
ENST00000377092.8:c.*685C>T	ENSP00000366296.5:n.*685C>T
ENST00000525130.5:c.*599C>T	ENSP00000433492.1:n.*599C>T
ENST00000525370.5:c.*599C>T	ENSP00000431420.1:n.*599C>T
ENST00000528094.5:c.837C>T	ENSP00000435177.1:p.Pro279=
ENST00000529634.2:c.53C>T
ENST00000533418.5:c.795C>T	ENSP00000431731.1:p.Pro265=
ENST00000534138.1:n.161C>T
XM_006723399.2:c.945C>T	XP_006723462.1:p.Pro315=
XM_006723399.3:c.945C>T	XP_006723462.1:p.Pro315=
XM_011527339.1:c.945C>T	XP_011525641.1:p.Pro315=
XM_011527340.1:c.795C>T	XP_011525642.1:p.Pro265=
XM_011527341.1:c.795C>T	XP_011525643.1:p.Pro265=
XM_011527341.2:c.795C>T	XP_011525643.1:p.Pro265=
XM_011527342.1:c.774C>T	XP_011525644.1:p.Pro258=
XM_011527342.2:c.774C>T	XP_011525644.1:p.Pro258=
XM_011527343.1:c.945C>T	XP_011525645.1:p.Pro315=
XM_011527344.1:c.747C>T	XP_011525646.1:p.Pro249=
XM_011527345.1:c.645C>T	XP_011525647.1:p.Pro215=
XM_011527346.1:c.645C>T	XP_011525648.1:p.Pro215=
XM_011527347.1:c.645C>T	XP_011525649.1:p.Pro215=
XM_017027320.1:c.945C>T	XP_016882809.1:p.Pro315=
XM_017027321.1:c.645C>T	XP_016882810.1:p.Pro215=
XM_017027322.2:c.795C>T	XP_016882811.1:p.Pro265=
XM_017027323.1:c.838C>T	XP_016882812.1:p.Leu280Phe
XM_024451729.1:c.774C>T	XP_024307497.1:p.Pro258=
XM_024451730.1:c.774C>T	XP_024307498.1:p.Pro258=
XR_001753764.1:n.1127C>T
XR_001753765.1:n.1020C>T
XR_002958363.1:n.1127C>T
XR_002958364.1:n.1127C>T
XR_002958365.1:n.1020C>T
XR_935862.1:n.1127C>T