Canonical Allele Identifier: CA406900477

Gene: FUZ

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000313777.9:c.1052A>C MANE Select	ENSP00000313309.4:p.Lys351Thr
ENST00000313777.8:c.1052A>C	ENSP00000313309.4:p.Lys351Thr
ENST00000377092.8:c.*792A>C	ENSP00000366296.5:n.*792A>C
ENST00000525130.5:c.*706A>C	ENSP00000433492.1:n.*706A>C
ENST00000525370.5:c.*709A>C	ENSP00000431420.1:n.*709A>C
ENST00000528094.5:c.944A>C	ENSP00000435177.1:p.Lys315Thr
ENST00000529634.2:c.208A>C
ENST00000533418.5:c.902A>C	ENSP00000431731.1:p.Lys301Thr
NM_001171937.1:c.944A>C	NP_001165408.1:p.Lys315Thr
NM_025129.4:c.1052A>C	NP_079405.2:p.Lys351Thr
NR_033269.1:n.1171A>C
XM_006723399.2:c.*38A>C	XP_006723462.1:n.*38A>C
XM_011527339.1:c.1055A>C	XP_011525641.1:p.Lys352Thr
XM_011527340.1:c.905A>C	XP_011525642.1:p.Lys302Thr
XM_011527341.1:c.905A>C	XP_011525643.1:p.Lys302Thr
XM_011527342.1:c.884A>C	XP_011525644.1:p.Lys295Thr
XM_011527343.1:c.*38A>C	XP_011525645.1:n.*38A>C
XM_011527344.1:c.857A>C	XP_011525646.1:p.Lys286Thr
XM_011527345.1:c.755A>C	XP_011525647.1:p.Lys252Thr
XM_011527346.1:c.755A>C	XP_011525648.1:p.Lys252Thr
XM_011527347.1:c.755A>C	XP_011525649.1:p.Lys252Thr
XR_935862.1:n.1420A>C
NM_001352262.1:c.1055A>C	NP_001339191.1:p.Lys352Thr
NM_001363663.1:c.902A>C	NP_001350592.1:p.Lys301Thr
XM_006723399.3:c.*38A>C	XP_006723462.1:n.*38A>C
XM_011527341.2:c.905A>C	XP_011525643.1:p.Lys302Thr
XM_011527342.2:c.884A>C	XP_011525644.1:p.Lys295Thr
XM_017027321.1:c.752A>C	XP_016882810.1:p.Lys251Thr
XM_017027322.2:c.*38A>C	XP_016882811.1:n.*38A>C
XM_024451729.1:c.884A>C	XP_024307497.1:p.Lys295Thr
XM_024451730.1:c.881A>C	XP_024307498.1:p.Lys294Thr
XR_001753764.1:n.1827A>C
XR_001753765.1:n.1127A>C
XR_002958363.1:n.2078A>C
XR_002958364.1:n.1824A>C
XR_002958365.1:n.1717A>C
NM_001171937.2:c.944A>C	NP_001165408.1:p.Lys315Thr
NM_001352262.2:c.1055A>C	NP_001339191.1:p.Lys352Thr
NM_025129.5:c.1052A>C MANE Select	NP_079405.2:p.Lys351Thr
NR_033269.2:n.1153A>C