Canonical Allele Identifier: CA406900482

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310614T>G (hg19) ; chr19:g.49807357T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807357T>G , CM000681.2:g.49807357T>G	GRCh38
NC_000019.9:g.50310614T>G , CM000681.1:g.50310614T>G	GRCh37
NC_000019.8:g.55002426T>G	NCBI36
NG_032843.1:g.10954A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000313777.9:c.1051A>C MANE Select	ENSP00000313309.4:p.Lys351Gln
ENST00000313777.8:c.1051A>C	ENSP00000313309.4:p.Lys351Gln
ENST00000377092.8:c.*791A>C	ENSP00000366296.5:n.*791A>C
ENST00000525130.5:c.*705A>C	ENSP00000433492.1:n.*705A>C
ENST00000525370.5:c.*708A>C	ENSP00000431420.1:n.*708A>C
ENST00000528094.5:c.943A>C	ENSP00000435177.1:p.Lys315Gln
ENST00000529634.2:c.207A>C
ENST00000533418.5:c.901A>C	ENSP00000431731.1:p.Lys301Gln
NM_001171937.1:c.943A>C	NP_001165408.1:p.Lys315Gln
NM_025129.4:c.1051A>C	NP_079405.2:p.Lys351Gln
NR_033269.1:n.1170A>C
XM_006723399.2:c.*37A>C	XP_006723462.1:n.*37A>C
XM_011527339.1:c.1054A>C	XP_011525641.1:p.Lys352Gln
XM_011527340.1:c.904A>C	XP_011525642.1:p.Lys302Gln
XM_011527341.1:c.904A>C	XP_011525643.1:p.Lys302Gln
XM_011527342.1:c.883A>C	XP_011525644.1:p.Lys295Gln
XM_011527343.1:c.*37A>C	XP_011525645.1:n.*37A>C
XM_011527344.1:c.856A>C	XP_011525646.1:p.Lys286Gln
XM_011527345.1:c.754A>C	XP_011525647.1:p.Lys252Gln
XM_011527346.1:c.754A>C	XP_011525648.1:p.Lys252Gln
XM_011527347.1:c.754A>C	XP_011525649.1:p.Lys252Gln
XR_935862.1:n.1419A>C
NM_001352262.1:c.1054A>C	NP_001339191.1:p.Lys352Gln
NM_001363663.1:c.901A>C	NP_001350592.1:p.Lys301Gln
XM_006723399.3:c.*37A>C	XP_006723462.1:n.*37A>C
XM_011527341.2:c.904A>C	XP_011525643.1:p.Lys302Gln
XM_011527342.2:c.883A>C	XP_011525644.1:p.Lys295Gln
XM_017027321.1:c.751A>C	XP_016882810.1:p.Lys251Gln
XM_017027322.2:c.*37A>C	XP_016882811.1:n.*37A>C
XM_024451729.1:c.883A>C	XP_024307497.1:p.Lys295Gln
XM_024451730.1:c.880A>C	XP_024307498.1:p.Lys294Gln
XR_001753764.1:n.1826A>C
XR_001753765.1:n.1126A>C
XR_002958363.1:n.2077A>C
XR_002958364.1:n.1823A>C
XR_002958365.1:n.1716A>C
NM_001171937.2:c.943A>C	NP_001165408.1:p.Lys315Gln
NM_001352262.2:c.1054A>C	NP_001339191.1:p.Lys352Gln
NM_025129.5:c.1051A>C MANE Select	NP_079405.2:p.Lys351Gln
NR_033269.2:n.1152A>C