Canonical Allele Identifier: CA406900056

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310506G>T (hg19) ; chr19:g.49807249G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807249G>T , CM000681.2:g.49807249G>T	GRCh38
NC_000019.9:g.50310506G>T , CM000681.1:g.50310506G>T	GRCh37
NC_000019.8:g.55002318G>T	NCBI36
NG_032843.1:g.11062C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313777.9:c.1159C>A MANE Select	ENSP00000313309.4:p.Leu387Ile
ENST00000313777.8:c.1159C>A	ENSP00000313309.4:p.Leu387Ile
ENST00000377092.8:c.*899C>A	ENSP00000366296.5:n.*899C>A
ENST00000525130.5:c.*813C>A	ENSP00000433492.1:n.*813C>A
ENST00000525370.5:c.*816C>A	ENSP00000431420.1:n.*816C>A
ENST00000528094.5:c.1051C>A	ENSP00000435177.1:p.Leu351Ile
ENST00000529634.2:c.315C>A
ENST00000533418.5:c.1009C>A	ENSP00000431731.1:p.Leu337Ile
NM_001171937.1:c.1051C>A	NP_001165408.1:p.Leu351Ile
NM_025129.4:c.1159C>A	NP_079405.2:p.Leu387Ile
NR_033269.1:n.1278C>A
XM_006723399.2:c.*145C>A	XP_006723462.1:n.*145C>A
XM_011527339.1:c.1162C>A	XP_011525641.1:p.Leu388Ile
XM_011527340.1:c.1012C>A	XP_011525642.1:p.Leu338Ile
XM_011527341.1:c.1012C>A	XP_011525643.1:p.Leu338Ile
XM_011527342.1:c.991C>A	XP_011525644.1:p.Leu331Ile
XM_011527343.1:c.*145C>A	XP_011525645.1:n.*145C>A
XM_011527344.1:c.964C>A	XP_011525646.1:p.Leu322Ile
XM_011527345.1:c.862C>A	XP_011525647.1:p.Leu288Ile
XM_011527346.1:c.862C>A	XP_011525648.1:p.Leu288Ile
XM_011527347.1:c.862C>A	XP_011525649.1:p.Leu288Ile
NM_001352262.1:c.1162C>A	NP_001339191.1:p.Leu388Ile
NM_001363663.1:c.1009C>A	NP_001350592.1:p.Leu337Ile
XM_006723399.3:c.*145C>A	XP_006723462.1:n.*145C>A
XM_011527341.2:c.1012C>A	XP_011525643.1:p.Leu338Ile
XM_011527342.2:c.991C>A	XP_011525644.1:p.Leu331Ile
XM_017027321.1:c.859C>A	XP_016882810.1:p.Leu287Ile
XM_017027322.2:c.*145C>A	XP_016882811.1:n.*145C>A
XM_024451729.1:c.991C>A	XP_024307497.1:p.Leu331Ile
XM_024451730.1:c.988C>A	XP_024307498.1:p.Leu330Ile
XR_001753764.1:n.1934C>A
XR_001753765.1:n.1234C>A
XR_002958363.1:n.2185C>A
XR_002958364.1:n.1931C>A
XR_002958365.1:n.1824C>A
NM_001171937.2:c.1051C>A	NP_001165408.1:p.Leu351Ile
NM_001352262.2:c.1162C>A	NP_001339191.1:p.Leu388Ile
NM_025129.5:c.1159C>A MANE Select	NP_079405.2:p.Leu387Ile
NR_033269.2:n.1260C>A