Canonical Allele Identifier: CA368666911

Gene: CUX1

Linked Data

• ClinVar Variation Id: 1805954
• ClinVar RCV Id: RCV002470238
• MyVariant Identifiers: chr7:g.101821795T>A (hg19) ; chr7:g.102178515T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.102178515T>A , CM000669.2:g.102178515T>A	GRCh38
NC_000007.13:g.101821795T>A , CM000669.1:g.101821795T>A	GRCh37
NC_000007.12:g.101608515T>A	NCBI36
NG_029476.2:g.367612T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292535.12:c.875T>A MANE Select	ENSP00000292535.7:p.Leu292Ter
ENST00000292538.9:c.908T>A	ENSP00000292538.4:p.Leu303Ter
ENST00000437600.9:c.902T>A	ENSP00000414091.5:p.Leu301Ter
ENST00000546411.7:c.875T>A	ENSP00000450125.3:p.Leu292Ter
ENST00000622516.6:c.908T>A MANE Plus Clinical	ENSP00000484760.2:p.Leu303Ter
ENST00000645010.1:c.908T>A	ENSP00000496653.1:p.Leu303Ter
ENST00000646649.1:c.908T>A	ENSP00000494610.1:p.Leu303Ter
ENST00000292535.11:c.875T>A	ENSP00000292535.7:p.Leu292Ter
ENST00000292538.8:c.908T>A	ENSP00000292538.4:p.Leu303Ter
ENST00000360264.7:c.908T>A	ENSP00000353401.3:p.Leu303Ter
ENST00000393824.7:c.791T>A	ENSP00000377410.3:p.Leu264Ter
ENST00000425244.6:c.770T>A	ENSP00000409745.2:p.Leu257Ter
ENST00000437600.8:c.908T>A	ENSP00000414091.4:p.Leu303Ter
ENST00000546411.6:c.875T>A	ENSP00000450125.2:p.Leu292Ter
ENST00000547394.6:c.860T>A	ENSP00000449371.2:p.Leu287Ter
ENST00000549414.6:c.875T>A	ENSP00000446630.2:p.Leu292Ter
ENST00000550008.6:c.875T>A	ENSP00000447373.2:p.Leu292Ter
ENST00000556210.1:c.875T>A	ENSP00000451558.1:p.Leu292Ter
ENST00000558836.5:n.1014T>A
ENST00000560541.5:n.1180T>A
ENST00000622516.4:c.902T>A	ENSP00000484760.1:p.Leu301Ter
NM_001202543.1:c.908T>A	NP_001189472.1:p.Leu303Ter
NM_001202544.2:c.860T>A	NP_001189473.1:p.Leu287Ter
NM_001202545.2:c.770T>A	NP_001189474.1:p.Leu257Ter
NM_001202546.2:c.791T>A	NP_001189475.1:p.Leu264Ter
NM_001913.4:c.908T>A	NP_001904.2:p.Leu303Ter
NM_181500.3:c.902T>A	NP_852477.1:p.Leu301Ter
NM_181552.3:c.875T>A	NP_853530.2:p.Leu292Ter
XM_005250150.1:c.1175T>A	XP_005250207.1:p.Leu392Ter
XM_005250151.1:c.1169T>A	XP_005250208.1:p.Leu390Ter
XM_005250154.3:c.1175T>A	XP_005250211.1:p.Leu392Ter
XM_006715854.1:c.1175T>A	XP_006715917.1:p.Leu392Ter
XM_006715855.1:c.1169T>A	XP_006715918.1:p.Leu390Ter
XM_006715856.2:c.908T>A	XP_006715919.1:p.Leu303Ter
XM_011515823.1:c.1175T>A	XP_011514125.1:p.Leu392Ter
XM_011515824.1:c.1169T>A	XP_011514126.1:p.Leu390Ter
XM_011515825.1:c.908T>A	XP_011514127.1:p.Leu303Ter
XM_005250150.3:c.1175T>A	XP_005250207.1:p.Leu392Ter
XM_006715854.2:c.1175T>A	XP_006715917.1:p.Leu392Ter
XM_011515825.2:c.908T>A	XP_011514127.1:p.Leu303Ter
XM_017011760.2:c.902T>A	XP_016867249.1:p.Leu301Ter
XM_024446668.1:c.1169T>A	XP_024302436.1:p.Leu390Ter
NM_181552.4:c.875T>A MANE Select	NP_853530.2:p.Leu292Ter
NM_001202543.2:c.908T>A	NP_001189472.1:p.Leu303Ter
NM_001202544.3:c.860T>A	NP_001189473.1:p.Leu287Ter
NM_001202545.3:c.770T>A	NP_001189474.1:p.Leu257Ter
NM_001202546.3:c.791T>A	NP_001189475.1:p.Leu264Ter
NM_001913.5:c.908T>A MANE Plus Clinical	NP_001904.2:p.Leu303Ter
NM_181500.4:c.902T>A	NP_852477.1:p.Leu301Ter