Canonical Allele Identifier: CA406900101

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310517A>G (hg19) ; chr19:g.49807260A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807260A>G , CM000681.2:g.49807260A>G	GRCh38
NC_000019.9:g.50310517A>G , CM000681.1:g.50310517A>G	GRCh37
NC_000019.8:g.55002329A>G	NCBI36
NG_032843.1:g.11051T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1148T>C MANE Select	ENSP00000313309.4:p.Leu383Ser
ENST00000313777.8:c.1148T>C	ENSP00000313309.4:p.Leu383Ser
ENST00000377092.8:c.*888T>C	ENSP00000366296.5:n.*888T>C
ENST00000525130.5:c.*802T>C	ENSP00000433492.1:n.*802T>C
ENST00000525370.5:c.*805T>C	ENSP00000431420.1:n.*805T>C
ENST00000528094.5:c.1040T>C	ENSP00000435177.1:p.Leu347Ser
ENST00000529634.2:c.304T>C
ENST00000533418.5:c.998T>C	ENSP00000431731.1:p.Leu333Ser
NM_001171937.1:c.1040T>C	NP_001165408.1:p.Leu347Ser
NM_025129.4:c.1148T>C	NP_079405.2:p.Leu383Ser
NR_033269.1:n.1267T>C
XM_006723399.2:c.*134T>C	XP_006723462.1:n.*134T>C
XM_011527339.1:c.1151T>C	XP_011525641.1:p.Leu384Ser
XM_011527340.1:c.1001T>C	XP_011525642.1:p.Leu334Ser
XM_011527341.1:c.1001T>C	XP_011525643.1:p.Leu334Ser
XM_011527342.1:c.980T>C	XP_011525644.1:p.Leu327Ser
XM_011527343.1:c.*134T>C	XP_011525645.1:n.*134T>C
XM_011527344.1:c.953T>C	XP_011525646.1:p.Leu318Ser
XM_011527345.1:c.851T>C	XP_011525647.1:p.Leu284Ser
XM_011527346.1:c.851T>C	XP_011525648.1:p.Leu284Ser
XM_011527347.1:c.851T>C	XP_011525649.1:p.Leu284Ser
NM_001352262.1:c.1151T>C	NP_001339191.1:p.Leu384Ser
NM_001363663.1:c.998T>C	NP_001350592.1:p.Leu333Ser
XM_006723399.3:c.*134T>C	XP_006723462.1:n.*134T>C
XM_011527341.2:c.1001T>C	XP_011525643.1:p.Leu334Ser
XM_011527342.2:c.980T>C	XP_011525644.1:p.Leu327Ser
XM_017027321.1:c.848T>C	XP_016882810.1:p.Leu283Ser
XM_017027322.2:c.*134T>C	XP_016882811.1:n.*134T>C
XM_024451729.1:c.980T>C	XP_024307497.1:p.Leu327Ser
XM_024451730.1:c.977T>C	XP_024307498.1:p.Leu326Ser
XR_001753764.1:n.1923T>C
XR_001753765.1:n.1223T>C
XR_002958363.1:n.2174T>C
XR_002958364.1:n.1920T>C
XR_002958365.1:n.1813T>C
NM_001171937.2:c.1040T>C	NP_001165408.1:p.Leu347Ser
NM_001352262.2:c.1151T>C	NP_001339191.1:p.Leu384Ser
NM_025129.5:c.1148T>C MANE Select	NP_079405.2:p.Leu383Ser
NR_033269.2:n.1249T>C