Canonical Allele Identifier: CA406900349

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310580G>C (hg19) ; chr19:g.49807323G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807323G>C , CM000681.2:g.49807323G>C	GRCh38
NC_000019.9:g.50310580G>C , CM000681.1:g.50310580G>C	GRCh37
NC_000019.8:g.55002392G>C	NCBI36
NG_032843.1:g.10988C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1085C>G MANE Select	ENSP00000313309.4:p.Pro362Arg
ENST00000313777.8:c.1085C>G	ENSP00000313309.4:p.Pro362Arg
ENST00000377092.8:c.*825C>G	ENSP00000366296.5:n.*825C>G
ENST00000525130.5:c.*739C>G	ENSP00000433492.1:n.*739C>G
ENST00000525370.5:c.*742C>G	ENSP00000431420.1:n.*742C>G
ENST00000528094.5:c.977C>G	ENSP00000435177.1:p.Pro326Arg
ENST00000529634.2:c.241C>G
ENST00000533418.5:c.935C>G	ENSP00000431731.1:p.Pro312Arg
NM_001171937.1:c.977C>G	NP_001165408.1:p.Pro326Arg
NM_025129.4:c.1085C>G	NP_079405.2:p.Pro362Arg
NR_033269.1:n.1204C>G
XM_006723399.2:c.*71C>G	XP_006723462.1:n.*71C>G
XM_011527339.1:c.1088C>G	XP_011525641.1:p.Pro363Arg
XM_011527340.1:c.938C>G	XP_011525642.1:p.Pro313Arg
XM_011527341.1:c.938C>G	XP_011525643.1:p.Pro313Arg
XM_011527342.1:c.917C>G	XP_011525644.1:p.Pro306Arg
XM_011527343.1:c.*71C>G	XP_011525645.1:n.*71C>G
XM_011527344.1:c.890C>G	XP_011525646.1:p.Pro297Arg
XM_011527345.1:c.788C>G	XP_011525647.1:p.Pro263Arg
XM_011527346.1:c.788C>G	XP_011525648.1:p.Pro263Arg
XM_011527347.1:c.788C>G	XP_011525649.1:p.Pro263Arg
XR_935862.1:n.1453C>G
NM_001352262.1:c.1088C>G	NP_001339191.1:p.Pro363Arg
NM_001363663.1:c.935C>G	NP_001350592.1:p.Pro312Arg
XM_006723399.3:c.*71C>G	XP_006723462.1:n.*71C>G
XM_011527341.2:c.938C>G	XP_011525643.1:p.Pro313Arg
XM_011527342.2:c.917C>G	XP_011525644.1:p.Pro306Arg
XM_017027321.1:c.785C>G	XP_016882810.1:p.Pro262Arg
XM_017027322.2:c.*71C>G	XP_016882811.1:n.*71C>G
XM_024451729.1:c.917C>G	XP_024307497.1:p.Pro306Arg
XM_024451730.1:c.914C>G	XP_024307498.1:p.Pro305Arg
XR_001753764.1:n.1860C>G
XR_001753765.1:n.1160C>G
XR_002958363.1:n.2111C>G
XR_002958364.1:n.1857C>G
XR_002958365.1:n.1750C>G
NM_001171937.2:c.977C>G	NP_001165408.1:p.Pro326Arg
NM_001352262.2:c.1088C>G	NP_001339191.1:p.Pro363Arg
NM_025129.5:c.1085C>G MANE Select	NP_079405.2:p.Pro362Arg
NR_033269.2:n.1186C>G