Canonical Allele Identifier: CA406900479

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310613T>C (hg19) ; chr19:g.49807356T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807356T>C , CM000681.2:g.49807356T>C	GRCh38
NC_000019.9:g.50310613T>C , CM000681.1:g.50310613T>C	GRCh37
NC_000019.8:g.55002425T>C	NCBI36
NG_032843.1:g.10955A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000313777.9:c.1052A>G MANE Select	ENSP00000313309.4:p.Lys351Arg
ENST00000313777.8:c.1052A>G	ENSP00000313309.4:p.Lys351Arg
ENST00000377092.8:c.*792A>G	ENSP00000366296.5:n.*792A>G
ENST00000525130.5:c.*706A>G	ENSP00000433492.1:n.*706A>G
ENST00000525370.5:c.*709A>G	ENSP00000431420.1:n.*709A>G
ENST00000528094.5:c.944A>G	ENSP00000435177.1:p.Lys315Arg
ENST00000529634.2:c.208A>G
ENST00000533418.5:c.902A>G	ENSP00000431731.1:p.Lys301Arg
NM_001171937.1:c.944A>G	NP_001165408.1:p.Lys315Arg
NM_025129.4:c.1052A>G	NP_079405.2:p.Lys351Arg
NR_033269.1:n.1171A>G
XM_006723399.2:c.*38A>G	XP_006723462.1:n.*38A>G
XM_011527339.1:c.1055A>G	XP_011525641.1:p.Lys352Arg
XM_011527340.1:c.905A>G	XP_011525642.1:p.Lys302Arg
XM_011527341.1:c.905A>G	XP_011525643.1:p.Lys302Arg
XM_011527342.1:c.884A>G	XP_011525644.1:p.Lys295Arg
XM_011527343.1:c.*38A>G	XP_011525645.1:n.*38A>G
XM_011527344.1:c.857A>G	XP_011525646.1:p.Lys286Arg
XM_011527345.1:c.755A>G	XP_011525647.1:p.Lys252Arg
XM_011527346.1:c.755A>G	XP_011525648.1:p.Lys252Arg
XM_011527347.1:c.755A>G	XP_011525649.1:p.Lys252Arg
XR_935862.1:n.1420A>G
NM_001352262.1:c.1055A>G	NP_001339191.1:p.Lys352Arg
NM_001363663.1:c.902A>G	NP_001350592.1:p.Lys301Arg
XM_006723399.3:c.*38A>G	XP_006723462.1:n.*38A>G
XM_011527341.2:c.905A>G	XP_011525643.1:p.Lys302Arg
XM_011527342.2:c.884A>G	XP_011525644.1:p.Lys295Arg
XM_017027321.1:c.752A>G	XP_016882810.1:p.Lys251Arg
XM_017027322.2:c.*38A>G	XP_016882811.1:n.*38A>G
XM_024451729.1:c.884A>G	XP_024307497.1:p.Lys295Arg
XM_024451730.1:c.881A>G	XP_024307498.1:p.Lys294Arg
XR_001753764.1:n.1827A>G
XR_001753765.1:n.1127A>G
XR_002958363.1:n.2078A>G
XR_002958364.1:n.1824A>G
XR_002958365.1:n.1717A>G
NM_001171937.2:c.944A>G	NP_001165408.1:p.Lys315Arg
NM_001352262.2:c.1055A>G	NP_001339191.1:p.Lys352Arg
NM_025129.5:c.1052A>G MANE Select	NP_079405.2:p.Lys351Arg
NR_033269.2:n.1153A>G