Canonical Allele Identifier: CA508137519

Gene: FUZ

Linked Data

• gnomAD v4: 19-49807232-C-A
• MyVariant Identifiers: chr19:g.50310489C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807232C>A , CM000681.2:g.49807232C>A	GRCh38
NC_000019.9:g.50310489C>A , CM000681.1:g.50310489C>A	GRCh37
NC_000019.8:g.55002301C>A	NCBI36
NG_032843.1:g.11079G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1176G>T MANE Select	ENSP00000313309.4:p.Leu392=
ENST00000313777.8:c.1176G>T	ENSP00000313309.4:p.Leu392=
ENST00000377092.8:c.*916G>T	ENSP00000366296.5:n.*916G>T
ENST00000525130.5:c.*830G>T	ENSP00000433492.1:n.*830G>T
ENST00000525370.5:c.*833G>T	ENSP00000431420.1:n.*833G>T
ENST00000528094.5:c.1068G>T	ENSP00000435177.1:p.Leu356=
ENST00000529634.2:c.332G>T
ENST00000533418.5:c.1026G>T	ENSP00000431731.1:p.Leu342=
NM_001171937.1:c.1068G>T	NP_001165408.1:p.Leu356=
NM_025129.4:c.1176G>T	NP_079405.2:p.Leu392=
NR_033269.1:n.1295G>T
XM_006723399.2:c.*162G>T	XP_006723462.1:n.*162G>T
XM_011527339.1:c.1179G>T	XP_011525641.1:p.Leu393=
XM_011527340.1:c.1029G>T	XP_011525642.1:p.Leu343=
XM_011527341.1:c.1029G>T	XP_011525643.1:p.Leu343=
XM_011527342.1:c.1008G>T	XP_011525644.1:p.Leu336=
XM_011527343.1:c.*162G>T	XP_011525645.1:n.*162G>T
XM_011527344.1:c.981G>T	XP_011525646.1:p.Leu327=
XM_011527345.1:c.879G>T	XP_011525647.1:p.Leu293=
XM_011527346.1:c.879G>T	XP_011525648.1:p.Leu293=
XM_011527347.1:c.879G>T	XP_011525649.1:p.Leu293=
NM_001352262.1:c.1179G>T	NP_001339191.1:p.Leu393=
NM_001363663.1:c.1026G>T	NP_001350592.1:p.Leu342=
XM_006723399.3:c.*162G>T	XP_006723462.1:n.*162G>T
XM_011527341.2:c.1029G>T	XP_011525643.1:p.Leu343=
XM_011527342.2:c.1008G>T	XP_011525644.1:p.Leu336=
XM_017027321.1:c.876G>T	XP_016882810.1:p.Leu292=
XM_017027322.2:c.*162G>T	XP_016882811.1:n.*162G>T
XM_024451729.1:c.1008G>T	XP_024307497.1:p.Leu336=
XM_024451730.1:c.1005G>T	XP_024307498.1:p.Leu335=
XR_001753764.1:n.1951G>T
XR_001753765.1:n.1251G>T
XR_002958363.1:n.2202G>T
XR_002958364.1:n.1948G>T
XR_002958365.1:n.1841G>T
NM_001171937.2:c.1068G>T	NP_001165408.1:p.Leu356=
NM_001352262.2:c.1179G>T	NP_001339191.1:p.Leu393=
NM_025129.5:c.1176G>T MANE Select	NP_079405.2:p.Leu392=
NR_033269.2:n.1277G>T