Canonical Allele Identifier: CA508137577

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310543T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807286T>A , CM000681.2:g.49807286T>A	GRCh38
NC_000019.9:g.50310543T>A , CM000681.1:g.50310543T>A	GRCh37
NC_000019.8:g.55002355T>A	NCBI36
NG_032843.1:g.11025A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1122A>T MANE Select	ENSP00000313309.4:p.Pro374=
ENST00000313777.8:c.1122A>T	ENSP00000313309.4:p.Pro374=
ENST00000377092.8:c.*862A>T	ENSP00000366296.5:n.*862A>T
ENST00000525130.5:c.*776A>T	ENSP00000433492.1:n.*776A>T
ENST00000525370.5:c.*779A>T	ENSP00000431420.1:n.*779A>T
ENST00000528094.5:c.1014A>T	ENSP00000435177.1:p.Pro338=
ENST00000529634.2:c.278A>T
ENST00000533418.5:c.972A>T	ENSP00000431731.1:p.Pro324=
NM_001171937.1:c.1014A>T	NP_001165408.1:p.Pro338=
NM_025129.4:c.1122A>T	NP_079405.2:p.Pro374=
NR_033269.1:n.1241A>T
XM_006723399.2:c.*108A>T	XP_006723462.1:n.*108A>T
XM_011527339.1:c.1125A>T	XP_011525641.1:p.Pro375=
XM_011527340.1:c.975A>T	XP_011525642.1:p.Pro325=
XM_011527341.1:c.975A>T	XP_011525643.1:p.Pro325=
XM_011527342.1:c.954A>T	XP_011525644.1:p.Pro318=
XM_011527343.1:c.*108A>T	XP_011525645.1:n.*108A>T
XM_011527344.1:c.927A>T	XP_011525646.1:p.Pro309=
XM_011527345.1:c.825A>T	XP_011525647.1:p.Pro275=
XM_011527346.1:c.825A>T	XP_011525648.1:p.Pro275=
XM_011527347.1:c.825A>T	XP_011525649.1:p.Pro275=
XR_935862.1:n.1490A>T
NM_001352262.1:c.1125A>T	NP_001339191.1:p.Pro375=
NM_001363663.1:c.972A>T	NP_001350592.1:p.Pro324=
XM_006723399.3:c.*108A>T	XP_006723462.1:n.*108A>T
XM_011527341.2:c.975A>T	XP_011525643.1:p.Pro325=
XM_011527342.2:c.954A>T	XP_011525644.1:p.Pro318=
XM_017027321.1:c.822A>T	XP_016882810.1:p.Pro274=
XM_017027322.2:c.*108A>T	XP_016882811.1:n.*108A>T
XM_024451729.1:c.954A>T	XP_024307497.1:p.Pro318=
XM_024451730.1:c.951A>T	XP_024307498.1:p.Pro317=
XR_001753764.1:n.1897A>T
XR_001753765.1:n.1197A>T
XR_002958363.1:n.2148A>T
XR_002958364.1:n.1894A>T
XR_002958365.1:n.1787A>T
NM_001171937.2:c.1014A>T	NP_001165408.1:p.Pro338=
NM_001352262.2:c.1125A>T	NP_001339191.1:p.Pro375=
NM_025129.5:c.1122A>T MANE Select	NP_079405.2:p.Pro374=
NR_033269.2:n.1223A>T