Canonical Allele Identifier: CA508137547

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310510C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807253C>T , CM000681.2:g.49807253C>T	GRCh38
NC_000019.9:g.50310510C>T , CM000681.1:g.50310510C>T	GRCh37
NC_000019.8:g.55002322C>T	NCBI36
NG_032843.1:g.11058G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313777.9:c.1155G>A MANE Select	ENSP00000313309.4:p.Leu385=
ENST00000313777.8:c.1155G>A	ENSP00000313309.4:p.Leu385=
ENST00000377092.8:c.*895G>A	ENSP00000366296.5:n.*895G>A
ENST00000525130.5:c.*809G>A	ENSP00000433492.1:n.*809G>A
ENST00000525370.5:c.*812G>A	ENSP00000431420.1:n.*812G>A
ENST00000528094.5:c.1047G>A	ENSP00000435177.1:p.Leu349=
ENST00000529634.2:c.311G>A
ENST00000533418.5:c.1005G>A	ENSP00000431731.1:p.Leu335=
NM_001171937.1:c.1047G>A	NP_001165408.1:p.Leu349=
NM_025129.4:c.1155G>A	NP_079405.2:p.Leu385=
NR_033269.1:n.1274G>A
XM_006723399.2:c.*141G>A	XP_006723462.1:n.*141G>A
XM_011527339.1:c.1158G>A	XP_011525641.1:p.Leu386=
XM_011527340.1:c.1008G>A	XP_011525642.1:p.Leu336=
XM_011527341.1:c.1008G>A	XP_011525643.1:p.Leu336=
XM_011527342.1:c.987G>A	XP_011525644.1:p.Leu329=
XM_011527343.1:c.*141G>A	XP_011525645.1:n.*141G>A
XM_011527344.1:c.960G>A	XP_011525646.1:p.Leu320=
XM_011527345.1:c.858G>A	XP_011525647.1:p.Leu286=
XM_011527346.1:c.858G>A	XP_011525648.1:p.Leu286=
XM_011527347.1:c.858G>A	XP_011525649.1:p.Leu286=
NM_001352262.1:c.1158G>A	NP_001339191.1:p.Leu386=
NM_001363663.1:c.1005G>A	NP_001350592.1:p.Leu335=
XM_006723399.3:c.*141G>A	XP_006723462.1:n.*141G>A
XM_011527341.2:c.1008G>A	XP_011525643.1:p.Leu336=
XM_011527342.2:c.987G>A	XP_011525644.1:p.Leu329=
XM_017027321.1:c.855G>A	XP_016882810.1:p.Leu285=
XM_017027322.2:c.*141G>A	XP_016882811.1:n.*141G>A
XM_024451729.1:c.987G>A	XP_024307497.1:p.Leu329=
XM_024451730.1:c.984G>A	XP_024307498.1:p.Leu328=
XR_001753764.1:n.1930G>A
XR_001753765.1:n.1230G>A
XR_002958363.1:n.2181G>A
XR_002958364.1:n.1927G>A
XR_002958365.1:n.1820G>A
NM_001171937.2:c.1047G>A	NP_001165408.1:p.Leu349=
NM_001352262.2:c.1158G>A	NP_001339191.1:p.Leu386=
NM_025129.5:c.1155G>A MANE Select	NP_079405.2:p.Leu385=
NR_033269.2:n.1256G>A