Canonical Allele Identifier: CA406900307

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310569A>T (hg19) ; chr19:g.49807312A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807312A>T , CM000681.2:g.49807312A>T	GRCh38
NC_000019.9:g.50310569A>T , CM000681.1:g.50310569A>T	GRCh37
NC_000019.8:g.55002381A>T	NCBI36
NG_032843.1:g.10999T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1096T>A MANE Select	ENSP00000313309.4:p.Tyr366Asn
ENST00000313777.8:c.1096T>A	ENSP00000313309.4:p.Tyr366Asn
ENST00000377092.8:c.*836T>A	ENSP00000366296.5:n.*836T>A
ENST00000525130.5:c.*750T>A	ENSP00000433492.1:n.*750T>A
ENST00000525370.5:c.*753T>A	ENSP00000431420.1:n.*753T>A
ENST00000528094.5:c.988T>A	ENSP00000435177.1:p.Tyr330Asn
ENST00000529634.2:c.252T>A
ENST00000533418.5:c.946T>A	ENSP00000431731.1:p.Tyr316Asn
NM_001171937.1:c.988T>A	NP_001165408.1:p.Tyr330Asn
NM_025129.4:c.1096T>A	NP_079405.2:p.Tyr366Asn
NR_033269.1:n.1215T>A
XM_006723399.2:c.*82T>A	XP_006723462.1:n.*82T>A
XM_011527339.1:c.1099T>A	XP_011525641.1:p.Tyr367Asn
XM_011527340.1:c.949T>A	XP_011525642.1:p.Tyr317Asn
XM_011527341.1:c.949T>A	XP_011525643.1:p.Tyr317Asn
XM_011527342.1:c.928T>A	XP_011525644.1:p.Tyr310Asn
XM_011527343.1:c.*82T>A	XP_011525645.1:n.*82T>A
XM_011527344.1:c.901T>A	XP_011525646.1:p.Tyr301Asn
XM_011527345.1:c.799T>A	XP_011525647.1:p.Tyr267Asn
XM_011527346.1:c.799T>A	XP_011525648.1:p.Tyr267Asn
XM_011527347.1:c.799T>A	XP_011525649.1:p.Tyr267Asn
XR_935862.1:n.1464T>A
NM_001352262.1:c.1099T>A	NP_001339191.1:p.Tyr367Asn
NM_001363663.1:c.946T>A	NP_001350592.1:p.Tyr316Asn
XM_006723399.3:c.*82T>A	XP_006723462.1:n.*82T>A
XM_011527341.2:c.949T>A	XP_011525643.1:p.Tyr317Asn
XM_011527342.2:c.928T>A	XP_011525644.1:p.Tyr310Asn
XM_017027321.1:c.796T>A	XP_016882810.1:p.Tyr266Asn
XM_017027322.2:c.*82T>A	XP_016882811.1:n.*82T>A
XM_024451729.1:c.928T>A	XP_024307497.1:p.Tyr310Asn
XM_024451730.1:c.925T>A	XP_024307498.1:p.Tyr309Asn
XR_001753764.1:n.1871T>A
XR_001753765.1:n.1171T>A
XR_002958363.1:n.2122T>A
XR_002958364.1:n.1868T>A
XR_002958365.1:n.1761T>A
NM_001171937.2:c.988T>A	NP_001165408.1:p.Tyr330Asn
NM_001352262.2:c.1099T>A	NP_001339191.1:p.Tyr367Asn
NM_025129.5:c.1096T>A MANE Select	NP_079405.2:p.Tyr366Asn
NR_033269.2:n.1197T>A