Canonical Allele Identifier: CA508137604

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310582C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807325C>G , CM000681.2:g.49807325C>G	GRCh38
NC_000019.9:g.50310582C>G , CM000681.1:g.50310582C>G	GRCh37
NC_000019.8:g.55002394C>G	NCBI36
NG_032843.1:g.10986G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1083G>C MANE Select	ENSP00000313309.4:p.Leu361=
ENST00000313777.8:c.1083G>C	ENSP00000313309.4:p.Leu361=
ENST00000377092.8:c.*823G>C	ENSP00000366296.5:n.*823G>C
ENST00000525130.5:c.*737G>C	ENSP00000433492.1:n.*737G>C
ENST00000525370.5:c.*740G>C	ENSP00000431420.1:n.*740G>C
ENST00000528094.5:c.975G>C	ENSP00000435177.1:p.Leu325=
ENST00000529634.2:c.239G>C
ENST00000533418.5:c.933G>C	ENSP00000431731.1:p.Leu311=
NM_001171937.1:c.975G>C	NP_001165408.1:p.Leu325=
NM_025129.4:c.1083G>C	NP_079405.2:p.Leu361=
NR_033269.1:n.1202G>C
XM_006723399.2:c.*69G>C	XP_006723462.1:n.*69G>C
XM_011527339.1:c.1086G>C	XP_011525641.1:p.Leu362=
XM_011527340.1:c.936G>C	XP_011525642.1:p.Leu312=
XM_011527341.1:c.936G>C	XP_011525643.1:p.Leu312=
XM_011527342.1:c.915G>C	XP_011525644.1:p.Leu305=
XM_011527343.1:c.*69G>C	XP_011525645.1:n.*69G>C
XM_011527344.1:c.888G>C	XP_011525646.1:p.Leu296=
XM_011527345.1:c.786G>C	XP_011525647.1:p.Leu262=
XM_011527346.1:c.786G>C	XP_011525648.1:p.Leu262=
XM_011527347.1:c.786G>C	XP_011525649.1:p.Leu262=
XR_935862.1:n.1451G>C
NM_001352262.1:c.1086G>C	NP_001339191.1:p.Leu362=
NM_001363663.1:c.933G>C	NP_001350592.1:p.Leu311=
XM_006723399.3:c.*69G>C	XP_006723462.1:n.*69G>C
XM_011527341.2:c.936G>C	XP_011525643.1:p.Leu312=
XM_011527342.2:c.915G>C	XP_011525644.1:p.Leu305=
XM_017027321.1:c.783G>C	XP_016882810.1:p.Leu261=
XM_017027322.2:c.*69G>C	XP_016882811.1:n.*69G>C
XM_024451729.1:c.915G>C	XP_024307497.1:p.Leu305=
XM_024451730.1:c.912G>C	XP_024307498.1:p.Leu304=
XR_001753764.1:n.1858G>C
XR_001753765.1:n.1158G>C
XR_002958363.1:n.2109G>C
XR_002958364.1:n.1855G>C
XR_002958365.1:n.1748G>C
NM_001171937.2:c.975G>C	NP_001165408.1:p.Leu325=
NM_001352262.2:c.1086G>C	NP_001339191.1:p.Leu362=
NM_025129.5:c.1083G>C MANE Select	NP_079405.2:p.Leu361=
NR_033269.2:n.1184G>C