Canonical Allele Identifier: CA376039741

Gene: BEND7

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13481013A>T , CM000672.2:g.13481013A>T	GRCh38
NC_000010.10:g.13523013A>T , CM000672.1:g.13523013A>T	GRCh37
NC_000010.9:g.13563019A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001369863.1:c.949T>A MANE Select	NP_001356792.1:p.Cys317Ser
ENST00000466271.3:c.949T>A MANE Select	ENSP00000507500.2:p.Cys317Ser
NM_001100912.1:c.832T>A	NP_001094382.1:p.Cys278Ser
NM_001100912.2:c.832T>A	NP_001094382.1:p.Cys278Ser
NM_001370075.1:c.793T>A	NP_001357004.1:p.Cys265Ser
NM_001370075.2:c.949T>A	NP_001357004.2:p.Cys317Ser
NM_001378149.1:c.949T>A	NP_001365078.1:p.Cys317Ser
NM_001378150.1:c.988T>A	NP_001365079.1:p.Cys330Ser
NM_001378151.1:c.949T>A	NP_001365080.1:p.Cys317Ser
NM_001387359.1:c.988T>A	NP_001374288.1:p.Cys330Ser
NM_152751.2:c.793T>A	NP_689964.2:p.Cys265Ser
NM_152751.3:c.793T>A	NP_689964.2:p.Cys265Ser
ENST00000341083.7:c.793T>A	ENSP00000345773.3:p.Cys265Ser
ENST00000378605.3:c.832T>A	ENSP00000367868.3:p.Cys278Ser
ENST00000440282.5:c.61T>A	ENSP00000401256.1:p.Cys21Ser
ENST00000480703.2:c.586T>A	ENSP00000506884.2:p.Cys196Ser
ENST00000649551.1:c.832T>A	ENSP00000498005.1:p.Cys278Ser
ENST00000649551.3:c.1082T>A
ENST00000683141.1:c.722T>A
ENST00000688845.1:c.604+11598T>A
ENST00000689161.1:c.838T>A	ENSP00000510220.1:p.Cys280Ser
ENST00000689491.1:n.567T>A
XM_005252402.3:c.949T>A	XP_005252459.1:p.Cys317Ser
XM_005252402.5:c.949T>A	XP_005252459.1:p.Cys317Ser
XM_011519390.1:c.832T>A	XP_011517692.1:p.Cys278Ser
XM_011519390.2:c.832T>A	XP_011517692.1:p.Cys278Ser
XM_011519391.1:c.832T>A	XP_011517693.1:p.Cys278Ser
XM_011519391.2:c.832T>A	XP_011517693.1:p.Cys278Ser
XM_011519392.1:c.949T>A	XP_011517694.1:p.Cys317Ser
XM_011519392.2:c.949T>A	XP_011517694.1:p.Cys317Ser
XM_011519393.1:c.904T>A	XP_011517695.1:p.Cys302Ser
XM_011519393.3:c.904T>A	XP_011517695.1:p.Cys302Ser
XM_011519394.1:c.832T>A	XP_011517696.1:p.Cys278Ser
XM_011519394.2:c.832T>A	XP_011517696.1:p.Cys278Ser
XM_011519395.1:c.832T>A	XP_011517697.1:p.Cys278Ser
XM_011519395.2:c.832T>A	XP_011517697.1:p.Cys278Ser
XM_011519396.1:c.832T>A	XP_011517698.1:p.Cys278Ser
XM_011519396.2:c.832T>A	XP_011517698.1:p.Cys278Ser
XM_011519397.1:c.832T>A	XP_011517699.1:p.Cys278Ser
XM_011519397.2:c.832T>A	XP_011517699.1:p.Cys278Ser
XM_011519398.1:c.832T>A	XP_011517700.1:p.Cys278Ser
XM_011519398.2:c.832T>A	XP_011517700.1:p.Cys278Ser
XM_011519399.1:c.832T>A	XP_011517701.1:p.Cys278Ser
XM_011519399.2:c.832T>A	XP_011517701.1:p.Cys278Ser
XM_011519400.1:c.832T>A	XP_011517702.1:p.Cys278Ser
XM_011519400.2:c.832T>A	XP_011517702.1:p.Cys278Ser
XM_011519401.1:c.832T>A	XP_011517703.1:p.Cys278Ser
XM_011519401.2:c.832T>A	XP_011517703.1:p.Cys278Ser
XM_011519402.1:c.832T>A	XP_011517704.1:p.Cys278Ser
XM_011519402.2:c.832T>A	XP_011517704.1:p.Cys278Ser
XM_011519403.1:c.832T>A	XP_011517705.1:p.Cys278Ser
XM_011519403.2:c.832T>A	XP_011517705.1:p.Cys278Ser
XM_011519404.1:c.832T>A	XP_011517706.1:p.Cys278Ser
XM_011519404.3:c.832T>A	XP_011517706.1:p.Cys278Ser
XM_011519405.1:c.832T>A	XP_011517707.1:p.Cys278Ser
XM_011519405.2:c.832T>A	XP_011517707.1:p.Cys278Ser
XM_011519406.1:c.832T>A	XP_011517708.1:p.Cys278Ser
XM_011519406.2:c.832T>A	XP_011517708.1:p.Cys278Ser
XM_011519407.1:c.832T>A	XP_011517709.1:p.Cys278Ser
XM_011519408.1:c.832T>A	XP_011517710.1:p.Cys278Ser
XM_011519408.2:c.832T>A	XP_011517710.1:p.Cys278Ser
XM_011519409.1:c.832T>A	XP_011517711.1:p.Cys278Ser
XM_011519410.1:c.832T>A	XP_011517712.1:p.Cys278Ser
XM_011519410.3:c.832T>A	XP_011517712.1:p.Cys278Ser
XM_011519411.1:c.832T>A	XP_011517713.1:p.Cys278Ser
XM_011519411.2:c.832T>A	XP_011517713.1:p.Cys278Ser
XM_011519412.1:c.828T>A	XP_011517714.1:p.Cys276Ter
XM_011519413.1:c.720+11598T>A	XP_011517715.1:n.720+11598T>A
XM_011519414.1:c.720+11598T>A	XP_011517716.1:n.720+11598T>A
XM_017015915.1:c.832T>A	XP_016871404.1:p.Cys278Ser
XM_017015918.1:c.949T>A	XP_016871407.1:p.Cys317Ser
XM_017015919.2:c.949T>A	XP_016871408.1:p.Cys317Ser
XM_024447885.1:c.832T>A	XP_024303653.1:p.Cys278Ser
XM_024447886.1:c.949T>A	XP_024303654.1:p.Cys317Ser
XR_001747061.1:n.769+11598T>A
XR_002956968.1:n.769+11598T>A
XR_002956969.1:n.769+11598T>A
XR_002956970.1:n.769+11598T>A
XR_930472.1:n.881T>A
XR_930473.1:n.877T>A
XR_930474.1:n.877T>A
XR_930474.3:n.877T>A
XR_930475.1:n.769+11598T>A
XR_930475.2:n.769+11598T>A
XR_930476.1:n.769+11598T>A
XR_930476.2:n.769+11598T>A
XR_930477.1:n.769+11598T>A
XR_930478.1:n.769+11598T>A
XR_930478.2:n.769+11598T>A
XR_930479.1:n.769+11598T>A
XR_930480.1:n.769+11598T>A
XR_930480.2:n.769+11598T>A
XR_930481.1:n.769+11598T>A
XR_930482.1:n.769+11598T>A
XR_930482.2:n.769+11598T>A