Canonical Allele Identifier: CA406900279

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310563C>A (hg19) ; chr19:g.49807306C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807306C>A , CM000681.2:g.49807306C>A	GRCh38
NC_000019.9:g.50310563C>A , CM000681.1:g.50310563C>A	GRCh37
NC_000019.8:g.55002375C>A	NCBI36
NG_032843.1:g.11005G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1102G>T MANE Select	ENSP00000313309.4:p.Val368Leu
ENST00000313777.8:c.1102G>T	ENSP00000313309.4:p.Val368Leu
ENST00000377092.8:c.*842G>T	ENSP00000366296.5:n.*842G>T
ENST00000525130.5:c.*756G>T	ENSP00000433492.1:n.*756G>T
ENST00000525370.5:c.*759G>T	ENSP00000431420.1:n.*759G>T
ENST00000528094.5:c.994G>T	ENSP00000435177.1:p.Val332Leu
ENST00000529634.2:c.258G>T
ENST00000533418.5:c.952G>T	ENSP00000431731.1:p.Val318Leu
NM_001171937.1:c.994G>T	NP_001165408.1:p.Val332Leu
NM_025129.4:c.1102G>T	NP_079405.2:p.Val368Leu
NR_033269.1:n.1221G>T
XM_006723399.2:c.*88G>T	XP_006723462.1:n.*88G>T
XM_011527339.1:c.1105G>T	XP_011525641.1:p.Val369Leu
XM_011527340.1:c.955G>T	XP_011525642.1:p.Val319Leu
XM_011527341.1:c.955G>T	XP_011525643.1:p.Val319Leu
XM_011527342.1:c.934G>T	XP_011525644.1:p.Val312Leu
XM_011527343.1:c.*88G>T	XP_011525645.1:n.*88G>T
XM_011527344.1:c.907G>T	XP_011525646.1:p.Val303Leu
XM_011527345.1:c.805G>T	XP_011525647.1:p.Val269Leu
XM_011527346.1:c.805G>T	XP_011525648.1:p.Val269Leu
XM_011527347.1:c.805G>T	XP_011525649.1:p.Val269Leu
XR_935862.1:n.1470G>T
NM_001352262.1:c.1105G>T	NP_001339191.1:p.Val369Leu
NM_001363663.1:c.952G>T	NP_001350592.1:p.Val318Leu
XM_006723399.3:c.*88G>T	XP_006723462.1:n.*88G>T
XM_011527341.2:c.955G>T	XP_011525643.1:p.Val319Leu
XM_011527342.2:c.934G>T	XP_011525644.1:p.Val312Leu
XM_017027321.1:c.802G>T	XP_016882810.1:p.Val268Leu
XM_017027322.2:c.*88G>T	XP_016882811.1:n.*88G>T
XM_024451729.1:c.934G>T	XP_024307497.1:p.Val312Leu
XM_024451730.1:c.931G>T	XP_024307498.1:p.Val311Leu
XR_001753764.1:n.1877G>T
XR_001753765.1:n.1177G>T
XR_002958363.1:n.2128G>T
XR_002958364.1:n.1874G>T
XR_002958365.1:n.1767G>T
NM_001171937.2:c.994G>T	NP_001165408.1:p.Val332Leu
NM_001352262.2:c.1105G>T	NP_001339191.1:p.Val369Leu
NM_025129.5:c.1102G>T MANE Select	NP_079405.2:p.Val368Leu
NR_033269.2:n.1203G>T