Canonical Allele Identifier: CA406899755

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310413G>C (hg19) ; chr19:g.49807156G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807156G>C , CM000681.2:g.49807156G>C	GRCh38
NC_000019.9:g.50310413G>C , CM000681.1:g.50310413G>C	GRCh37
NC_000019.8:g.55002225G>C	NCBI36
NG_032843.1:g.11155C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1252C>G MANE Select	ENSP00000313309.4:p.Leu418Val
ENST00000313777.8:c.1252C>G	ENSP00000313309.4:p.Leu418Val
ENST00000377092.8:c.*992C>G	ENSP00000366296.5:n.*992C>G
ENST00000525130.5:c.*906C>G	ENSP00000433492.1:n.*906C>G
ENST00000525370.5:c.*909C>G	ENSP00000431420.1:n.*909C>G
ENST00000528094.5:c.1144C>G	ENSP00000435177.1:p.Leu382Val
ENST00000529634.2:c.408C>G
ENST00000533418.5:c.1102C>G	ENSP00000431731.1:p.Leu368Val
NM_001171937.1:c.1144C>G	NP_001165408.1:p.Leu382Val
NM_025129.4:c.1252C>G	NP_079405.2:p.Leu418Val
NR_033269.1:n.1371C>G
XM_006723399.2:c.*238C>G	XP_006723462.1:n.*238C>G
XM_011527339.1:c.1255C>G	XP_011525641.1:p.Leu419Val
XM_011527340.1:c.1105C>G	XP_011525642.1:p.Leu369Val
XM_011527341.1:c.1105C>G	XP_011525643.1:p.Leu369Val
XM_011527342.1:c.1084C>G	XP_011525644.1:p.Leu362Val
XM_011527343.1:c.*238C>G	XP_011525645.1:n.*238C>G
XM_011527344.1:c.1057C>G	XP_011525646.1:p.Leu353Val
XM_011527345.1:c.955C>G	XP_011525647.1:p.Leu319Val
XM_011527346.1:c.955C>G	XP_011525648.1:p.Leu319Val
XM_011527347.1:c.955C>G	XP_011525649.1:p.Leu319Val
NM_001352262.1:c.1255C>G	NP_001339191.1:p.Leu419Val
NM_001363663.1:c.1102C>G	NP_001350592.1:p.Leu368Val
XM_006723399.3:c.*238C>G	XP_006723462.1:n.*238C>G
XM_011527341.2:c.1105C>G	XP_011525643.1:p.Leu369Val
XM_011527342.2:c.1084C>G	XP_011525644.1:p.Leu362Val
XM_017027321.1:c.952C>G	XP_016882810.1:p.Leu318Val
XM_017027322.2:c.*238C>G	XP_016882811.1:n.*238C>G
XM_024451729.1:c.1084C>G	XP_024307497.1:p.Leu362Val
XM_024451730.1:c.1081C>G	XP_024307498.1:p.Leu361Val
XR_001753764.1:n.2027C>G
XR_001753765.1:n.1327C>G
XR_002958363.1:n.2278C>G
XR_002958364.1:n.2024C>G
XR_002958365.1:n.1917C>G
NM_001171937.2:c.1144C>G	NP_001165408.1:p.Leu382Val
NM_001352262.2:c.1255C>G	NP_001339191.1:p.Leu419Val
NM_025129.5:c.1252C>G MANE Select	NP_079405.2:p.Leu418Val
NR_033269.2:n.1353C>G