Canonical Allele Identifier: CA508137439

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310414A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807157A>G , CM000681.2:g.49807157A>G	GRCh38
NC_000019.9:g.50310414A>G , CM000681.1:g.50310414A>G	GRCh37
NC_000019.8:g.55002226A>G	NCBI36
NG_032843.1:g.11154T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1251T>C MANE Select	ENSP00000313309.4:p.Leu417=
ENST00000313777.8:c.1251T>C	ENSP00000313309.4:p.Leu417=
ENST00000377092.8:c.*991T>C	ENSP00000366296.5:n.*991T>C
ENST00000525130.5:c.*905T>C	ENSP00000433492.1:n.*905T>C
ENST00000525370.5:c.*908T>C	ENSP00000431420.1:n.*908T>C
ENST00000528094.5:c.1143T>C	ENSP00000435177.1:p.Leu381=
ENST00000529634.2:c.407T>C
ENST00000533418.5:c.1101T>C	ENSP00000431731.1:p.Leu367=
NM_001171937.1:c.1143T>C	NP_001165408.1:p.Leu381=
NM_025129.4:c.1251T>C	NP_079405.2:p.Leu417=
NR_033269.1:n.1370T>C
XM_006723399.2:c.*237T>C	XP_006723462.1:n.*237T>C
XM_011527339.1:c.1254T>C	XP_011525641.1:p.Leu418=
XM_011527340.1:c.1104T>C	XP_011525642.1:p.Leu368=
XM_011527341.1:c.1104T>C	XP_011525643.1:p.Leu368=
XM_011527342.1:c.1083T>C	XP_011525644.1:p.Leu361=
XM_011527343.1:c.*237T>C	XP_011525645.1:n.*237T>C
XM_011527344.1:c.1056T>C	XP_011525646.1:p.Leu352=
XM_011527345.1:c.954T>C	XP_011525647.1:p.Leu318=
XM_011527346.1:c.954T>C	XP_011525648.1:p.Leu318=
XM_011527347.1:c.954T>C	XP_011525649.1:p.Leu318=
NM_001352262.1:c.1254T>C	NP_001339191.1:p.Leu418=
NM_001363663.1:c.1101T>C	NP_001350592.1:p.Leu367=
XM_006723399.3:c.*237T>C	XP_006723462.1:n.*237T>C
XM_011527341.2:c.1104T>C	XP_011525643.1:p.Leu368=
XM_011527342.2:c.1083T>C	XP_011525644.1:p.Leu361=
XM_017027321.1:c.951T>C	XP_016882810.1:p.Leu317=
XM_017027322.2:c.*237T>C	XP_016882811.1:n.*237T>C
XM_024451729.1:c.1083T>C	XP_024307497.1:p.Leu361=
XM_024451730.1:c.1080T>C	XP_024307498.1:p.Leu360=
XR_001753764.1:n.2026T>C
XR_001753765.1:n.1326T>C
XR_002958363.1:n.2277T>C
XR_002958364.1:n.2023T>C
XR_002958365.1:n.1916T>C
NM_001171937.2:c.1143T>C	NP_001165408.1:p.Leu381=
NM_001352262.2:c.1254T>C	NP_001339191.1:p.Leu418=
NM_025129.5:c.1251T>C MANE Select	NP_079405.2:p.Leu417=
NR_033269.2:n.1352T>C