Canonical Allele Identifier: CA406900072

Gene: FUZ

Linked Data

• dbSNP Id: rs1240381448
• MyVariant Identifiers: chr19:g.50310511A>G (hg19) ; chr19:g.49807254A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807254A>G , CM000681.2:g.49807254A>G	GRCh38
NC_000019.9:g.50310511A>G , CM000681.1:g.50310511A>G	GRCh37
NC_000019.8:g.55002323A>G	NCBI36
NG_032843.1:g.11057T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1154T>C MANE Select	ENSP00000313309.4:p.Leu385Pro
ENST00000313777.8:c.1154T>C	ENSP00000313309.4:p.Leu385Pro
ENST00000377092.8:c.*894T>C	ENSP00000366296.5:n.*894T>C
ENST00000525130.5:c.*808T>C	ENSP00000433492.1:n.*808T>C
ENST00000525370.5:c.*811T>C	ENSP00000431420.1:n.*811T>C
ENST00000528094.5:c.1046T>C	ENSP00000435177.1:p.Leu349Pro
ENST00000529634.2:c.310T>C
ENST00000533418.5:c.1004T>C	ENSP00000431731.1:p.Leu335Pro
NM_001171937.1:c.1046T>C	NP_001165408.1:p.Leu349Pro
NM_025129.4:c.1154T>C	NP_079405.2:p.Leu385Pro
NR_033269.1:n.1273T>C
XM_006723399.2:c.*140T>C	XP_006723462.1:n.*140T>C
XM_011527339.1:c.1157T>C	XP_011525641.1:p.Leu386Pro
XM_011527340.1:c.1007T>C	XP_011525642.1:p.Leu336Pro
XM_011527341.1:c.1007T>C	XP_011525643.1:p.Leu336Pro
XM_011527342.1:c.986T>C	XP_011525644.1:p.Leu329Pro
XM_011527343.1:c.*140T>C	XP_011525645.1:n.*140T>C
XM_011527344.1:c.959T>C	XP_011525646.1:p.Leu320Pro
XM_011527345.1:c.857T>C	XP_011525647.1:p.Leu286Pro
XM_011527346.1:c.857T>C	XP_011525648.1:p.Leu286Pro
XM_011527347.1:c.857T>C	XP_011525649.1:p.Leu286Pro
NM_001352262.1:c.1157T>C	NP_001339191.1:p.Leu386Pro
NM_001363663.1:c.1004T>C	NP_001350592.1:p.Leu335Pro
XM_006723399.3:c.*140T>C	XP_006723462.1:n.*140T>C
XM_011527341.2:c.1007T>C	XP_011525643.1:p.Leu336Pro
XM_011527342.2:c.986T>C	XP_011525644.1:p.Leu329Pro
XM_017027321.1:c.854T>C	XP_016882810.1:p.Leu285Pro
XM_017027322.2:c.*140T>C	XP_016882811.1:n.*140T>C
XM_024451729.1:c.986T>C	XP_024307497.1:p.Leu329Pro
XM_024451730.1:c.983T>C	XP_024307498.1:p.Leu328Pro
XR_001753764.1:n.1929T>C
XR_001753765.1:n.1229T>C
XR_002958363.1:n.2180T>C
XR_002958364.1:n.1926T>C
XR_002958365.1:n.1819T>C
NM_001171937.2:c.1046T>C	NP_001165408.1:p.Leu349Pro
NM_001352262.2:c.1157T>C	NP_001339191.1:p.Leu386Pro
NM_025129.5:c.1154T>C MANE Select	NP_079405.2:p.Leu385Pro
NR_033269.2:n.1255T>C