Canonical Allele Identifier: CA368682403

Gene: CUX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.102201795G>T , CM000669.2:g.102201795G>T	GRCh38
NC_000007.13:g.101845075G>T , CM000669.1:g.101845075G>T	GRCh37
NC_000007.12:g.101631795G>T	NCBI36
NG_029476.2:g.390892G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292535.12:c.2498G>T MANE Select	ENSP00000292535.7:p.Arg833Ile
ENST00000292538.9:c.1255+6192G>T	ENSP00000292538.4:n.1255+6192G>T
ENST00000437600.9:c.1249+6192G>T	ENSP00000414091.5:n.1249+6192G>T
ENST00000546411.7:c.2498G>T	ENSP00000450125.3:p.Arg833Ile
ENST00000622516.6:c.1255+6192G>T MANE Plus Clinical	ENSP00000484760.2:n.1255+6192G>T
ENST00000645010.1:c.2363G>T	ENSP00000496653.1:p.Arg788Ile
ENST00000646649.1:c.2057G>T	ENSP00000494610.1:p.Arg686Ile
ENST00000292535.11:c.2498G>T	ENSP00000292535.7:p.Arg833Ile
ENST00000292538.8:c.1255+6192G>T	ENSP00000292538.4:n.1255+6192G>T
ENST00000360264.7:c.2531G>T	ENSP00000353401.3:p.Arg844Ile
ENST00000393824.7:c.1138+6192G>T	ENSP00000377410.3:n.1138+6192G>T
ENST00000425244.6:c.1117+6192G>T	ENSP00000409745.2:n.1117+6192G>T
ENST00000437600.8:c.1255+6192G>T	ENSP00000414091.4:n.1255+6192G>T
ENST00000546411.6:c.2192G>T	ENSP00000450125.2:p.Arg731Ile
ENST00000547394.6:c.1207+6192G>T	ENSP00000449371.2:n.1207+6192G>T
ENST00000549414.6:c.2432G>T	ENSP00000446630.2:p.Arg811Ile
ENST00000550008.6:c.2330G>T	ENSP00000447373.2:p.Arg777Ile
ENST00000556210.1:c.2024G>T	ENSP00000451558.1:p.Arg675Ile
ENST00000558836.5:n.1361+6192G>T
ENST00000560541.5:n.1527+6192G>T
ENST00000622516.4:c.1249+6192G>T	ENSP00000484760.1:n.1249+6192G>T
NM_001202543.1:c.2531G>T	NP_001189472.1:p.Arg844Ile
NM_001202544.2:c.1207+6192G>T	NP_001189473.1:n.1207+6192G>T
NM_001202545.2:c.1117+6192G>T	NP_001189474.1:n.1117+6192G>T
NM_001202546.2:c.1138+6192G>T	NP_001189475.1:n.1138+6192G>T
NM_001913.4:c.1255+6192G>T	NP_001904.2:n.1255+6192G>T
NM_181500.3:c.1249+6192G>T	NP_852477.1:n.1249+6192G>T
NM_181552.3:c.2498G>T	NP_853530.2:p.Arg833Ile
XM_005250150.1:c.2795G>T	XP_005250207.1:p.Arg932Ile
XM_005250151.1:c.2792G>T	XP_005250208.1:p.Arg931Ile
XM_005250154.3:c.1522+6192G>T	XP_005250211.1:n.1522+6192G>T
XM_006715854.1:c.2732G>T	XP_006715917.1:p.Arg911Ile
XM_006715855.1:c.1516+6192G>T	XP_006715918.1:n.1516+6192G>T
XM_006715856.2:c.2465G>T	XP_006715919.1:p.Arg822Ile
XM_011515823.1:c.2492G>T	XP_011514125.1:p.Arg831Ile
XM_011515824.1:c.2486G>T	XP_011514126.1:p.Arg829Ile
XM_011515825.1:c.2225G>T	XP_011514127.1:p.Arg742Ile
XM_005250150.3:c.2795G>T	XP_005250207.1:p.Arg932Ile
XM_006715854.2:c.2732G>T	XP_006715917.1:p.Arg911Ile
XM_011515825.2:c.2225G>T	XP_011514127.1:p.Arg742Ile
XM_017011760.2:c.2459G>T	XP_016867249.1:p.Arg820Ile
XM_024446668.1:c.2486G>T	XP_024302436.1:p.Arg829Ile
NM_181552.4:c.2498G>T MANE Select	NP_853530.2:p.Arg833Ile
NM_001202543.2:c.2531G>T	NP_001189472.1:p.Arg844Ile
NM_001202544.3:c.1207+6192G>T	NP_001189473.1:n.1207+6192G>T
NM_001202545.3:c.1117+6192G>T	NP_001189474.1:n.1117+6192G>T
NM_001202546.3:c.1138+6192G>T	NP_001189475.1:n.1138+6192G>T
NM_001913.5:c.1255+6192G>T MANE Plus Clinical	NP_001904.2:n.1255+6192G>T
NM_181500.4:c.1249+6192G>T	NP_852477.1:n.1249+6192G>T