Canonical Allele Identifier: CA508137544

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310507C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807250C>G , CM000681.2:g.49807250C>G	GRCh38
NC_000019.9:g.50310507C>G , CM000681.1:g.50310507C>G	GRCh37
NC_000019.8:g.55002319C>G	NCBI36
NG_032843.1:g.11061G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1158G>C MANE Select	ENSP00000313309.4:p.Gly386=
ENST00000313777.8:c.1158G>C	ENSP00000313309.4:p.Gly386=
ENST00000377092.8:c.*898G>C	ENSP00000366296.5:n.*898G>C
ENST00000525130.5:c.*812G>C	ENSP00000433492.1:n.*812G>C
ENST00000525370.5:c.*815G>C	ENSP00000431420.1:n.*815G>C
ENST00000528094.5:c.1050G>C	ENSP00000435177.1:p.Gly350=
ENST00000529634.2:c.314G>C
ENST00000533418.5:c.1008G>C	ENSP00000431731.1:p.Gly336=
NM_001171937.1:c.1050G>C	NP_001165408.1:p.Gly350=
NM_025129.4:c.1158G>C	NP_079405.2:p.Gly386=
NR_033269.1:n.1277G>C
XM_006723399.2:c.*144G>C	XP_006723462.1:n.*144G>C
XM_011527339.1:c.1161G>C	XP_011525641.1:p.Gly387=
XM_011527340.1:c.1011G>C	XP_011525642.1:p.Gly337=
XM_011527341.1:c.1011G>C	XP_011525643.1:p.Gly337=
XM_011527342.1:c.990G>C	XP_011525644.1:p.Gly330=
XM_011527343.1:c.*144G>C	XP_011525645.1:n.*144G>C
XM_011527344.1:c.963G>C	XP_011525646.1:p.Gly321=
XM_011527345.1:c.861G>C	XP_011525647.1:p.Gly287=
XM_011527346.1:c.861G>C	XP_011525648.1:p.Gly287=
XM_011527347.1:c.861G>C	XP_011525649.1:p.Gly287=
NM_001352262.1:c.1161G>C	NP_001339191.1:p.Gly387=
NM_001363663.1:c.1008G>C	NP_001350592.1:p.Gly336=
XM_006723399.3:c.*144G>C	XP_006723462.1:n.*144G>C
XM_011527341.2:c.1011G>C	XP_011525643.1:p.Gly337=
XM_011527342.2:c.990G>C	XP_011525644.1:p.Gly330=
XM_017027321.1:c.858G>C	XP_016882810.1:p.Gly286=
XM_017027322.2:c.*144G>C	XP_016882811.1:n.*144G>C
XM_024451729.1:c.990G>C	XP_024307497.1:p.Gly330=
XM_024451730.1:c.987G>C	XP_024307498.1:p.Gly329=
XR_001753764.1:n.1933G>C
XR_001753765.1:n.1233G>C
XR_002958363.1:n.2184G>C
XR_002958364.1:n.1930G>C
XR_002958365.1:n.1823G>C
NM_001171937.2:c.1050G>C	NP_001165408.1:p.Gly350=
NM_001352262.2:c.1161G>C	NP_001339191.1:p.Gly387=
NM_025129.5:c.1158G>C MANE Select	NP_079405.2:p.Gly386=
NR_033269.2:n.1259G>C