Canonical Allele Identifier: CA406900467

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310611T>G (hg19) ; chr19:g.49807354T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807354T>G , CM000681.2:g.49807354T>G	GRCh38
NC_000019.9:g.50310611T>G , CM000681.1:g.50310611T>G	GRCh37
NC_000019.8:g.55002423T>G	NCBI36
NG_032843.1:g.10957A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000313777.9:c.1054A>C MANE Select	ENSP00000313309.4:p.Thr352Pro
ENST00000313777.8:c.1054A>C	ENSP00000313309.4:p.Thr352Pro
ENST00000377092.8:c.*794A>C	ENSP00000366296.5:n.*794A>C
ENST00000525130.5:c.*708A>C	ENSP00000433492.1:n.*708A>C
ENST00000525370.5:c.*711A>C	ENSP00000431420.1:n.*711A>C
ENST00000528094.5:c.946A>C	ENSP00000435177.1:p.Thr316Pro
ENST00000529634.2:c.210A>C
ENST00000533418.5:c.904A>C	ENSP00000431731.1:p.Thr302Pro
NM_001171937.1:c.946A>C	NP_001165408.1:p.Thr316Pro
NM_025129.4:c.1054A>C	NP_079405.2:p.Thr352Pro
NR_033269.1:n.1173A>C
XM_006723399.2:c.*40A>C	XP_006723462.1:n.*40A>C
XM_011527339.1:c.1057A>C	XP_011525641.1:p.Thr353Pro
XM_011527340.1:c.907A>C	XP_011525642.1:p.Thr303Pro
XM_011527341.1:c.907A>C	XP_011525643.1:p.Thr303Pro
XM_011527342.1:c.886A>C	XP_011525644.1:p.Thr296Pro
XM_011527343.1:c.*40A>C	XP_011525645.1:n.*40A>C
XM_011527344.1:c.859A>C	XP_011525646.1:p.Thr287Pro
XM_011527345.1:c.757A>C	XP_011525647.1:p.Thr253Pro
XM_011527346.1:c.757A>C	XP_011525648.1:p.Thr253Pro
XM_011527347.1:c.757A>C	XP_011525649.1:p.Thr253Pro
XR_935862.1:n.1422A>C
NM_001352262.1:c.1057A>C	NP_001339191.1:p.Thr353Pro
NM_001363663.1:c.904A>C	NP_001350592.1:p.Thr302Pro
XM_006723399.3:c.*40A>C	XP_006723462.1:n.*40A>C
XM_011527341.2:c.907A>C	XP_011525643.1:p.Thr303Pro
XM_011527342.2:c.886A>C	XP_011525644.1:p.Thr296Pro
XM_017027321.1:c.754A>C	XP_016882810.1:p.Thr252Pro
XM_017027322.2:c.*40A>C	XP_016882811.1:n.*40A>C
XM_024451729.1:c.886A>C	XP_024307497.1:p.Thr296Pro
XM_024451730.1:c.883A>C	XP_024307498.1:p.Thr295Pro
XR_001753764.1:n.1829A>C
XR_001753765.1:n.1129A>C
XR_002958363.1:n.2080A>C
XR_002958364.1:n.1826A>C
XR_002958365.1:n.1719A>C
NM_001171937.2:c.946A>C	NP_001165408.1:p.Thr316Pro
NM_001352262.2:c.1057A>C	NP_001339191.1:p.Thr353Pro
NM_025129.5:c.1054A>C MANE Select	NP_079405.2:p.Thr352Pro
NR_033269.2:n.1155A>C