Canonical Allele Identifier: CA406900402

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310595T>A (hg19) ; chr19:g.49807338T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807338T>A , CM000681.2:g.49807338T>A	GRCh38
NC_000019.9:g.50310595T>A , CM000681.1:g.50310595T>A	GRCh37
NC_000019.8:g.55002407T>A	NCBI36
NG_032843.1:g.10973A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1070A>T MANE Select	ENSP00000313309.4:p.Tyr357Phe
ENST00000313777.8:c.1070A>T	ENSP00000313309.4:p.Tyr357Phe
ENST00000377092.8:c.*810A>T	ENSP00000366296.5:n.*810A>T
ENST00000525130.5:c.*724A>T	ENSP00000433492.1:n.*724A>T
ENST00000525370.5:c.*727A>T	ENSP00000431420.1:n.*727A>T
ENST00000528094.5:c.962A>T	ENSP00000435177.1:p.Tyr321Phe
ENST00000529634.2:c.226A>T
ENST00000533418.5:c.920A>T	ENSP00000431731.1:p.Tyr307Phe
NM_001171937.1:c.962A>T	NP_001165408.1:p.Tyr321Phe
NM_025129.4:c.1070A>T	NP_079405.2:p.Tyr357Phe
NR_033269.1:n.1189A>T
XM_006723399.2:c.*56A>T	XP_006723462.1:n.*56A>T
XM_011527339.1:c.1073A>T	XP_011525641.1:p.Tyr358Phe
XM_011527340.1:c.923A>T	XP_011525642.1:p.Tyr308Phe
XM_011527341.1:c.923A>T	XP_011525643.1:p.Tyr308Phe
XM_011527342.1:c.902A>T	XP_011525644.1:p.Tyr301Phe
XM_011527343.1:c.*56A>T	XP_011525645.1:n.*56A>T
XM_011527344.1:c.875A>T	XP_011525646.1:p.Tyr292Phe
XM_011527345.1:c.773A>T	XP_011525647.1:p.Tyr258Phe
XM_011527346.1:c.773A>T	XP_011525648.1:p.Tyr258Phe
XM_011527347.1:c.773A>T	XP_011525649.1:p.Tyr258Phe
XR_935862.1:n.1438A>T
NM_001352262.1:c.1073A>T	NP_001339191.1:p.Tyr358Phe
NM_001363663.1:c.920A>T	NP_001350592.1:p.Tyr307Phe
XM_006723399.3:c.*56A>T	XP_006723462.1:n.*56A>T
XM_011527341.2:c.923A>T	XP_011525643.1:p.Tyr308Phe
XM_011527342.2:c.902A>T	XP_011525644.1:p.Tyr301Phe
XM_017027321.1:c.770A>T	XP_016882810.1:p.Tyr257Phe
XM_017027322.2:c.*56A>T	XP_016882811.1:n.*56A>T
XM_024451729.1:c.902A>T	XP_024307497.1:p.Tyr301Phe
XM_024451730.1:c.899A>T	XP_024307498.1:p.Tyr300Phe
XR_001753764.1:n.1845A>T
XR_001753765.1:n.1145A>T
XR_002958363.1:n.2096A>T
XR_002958364.1:n.1842A>T
XR_002958365.1:n.1735A>T
NM_001171937.2:c.962A>T	NP_001165408.1:p.Tyr321Phe
NM_001352262.2:c.1073A>T	NP_001339191.1:p.Tyr358Phe
NM_025129.5:c.1070A>T MANE Select	NP_079405.2:p.Tyr357Phe
NR_033269.2:n.1171A>T