Canonical Allele Identifier: CA396326101

Gene: CTCF

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67637844A>T , CM000678.2:g.67637844A>T	GRCh38
NC_000016.9:g.67671747A>T , CM000678.1:g.67671747A>T	GRCh37
NC_000016.8:g.66229248A>T	NCBI36
NG_033892.1:g.80438A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006565.4:c.2156A>T MANE Select	NP_006556.1:p.Glu719Val
ENST00000264010.10:c.2156A>T MANE Select	ENSP00000264010.4:p.Glu719Val
NM_001191022.1:c.1172A>T	NP_001177951.1:p.Glu391Val
NM_001191022.2:c.1172A>T	NP_001177951.1:p.Glu391Val
NM_001363916.1:c.2150A>T	NP_001350845.1:p.Glu717Val
NM_006565.3:c.2156A>T	NP_006556.1:p.Glu719Val
ENST00000264010.8:c.2156A>T	ENSP00000264010.4:p.Glu719Val
ENST00000401394.5:c.1172A>T	ENSP00000384707.1:p.Glu391Val
ENST00000401394.6:c.1172A>T	ENSP00000384707.1:p.Glu391Val
ENST00000642420.1:n.845A>T
ENST00000642819.1:c.2156A>T	ENSP00000494408.1:p.Glu719Val
ENST00000643892.1:c.*357A>T	ENSP00000494358.1:n.*357A>T
ENST00000644753.1:c.2156A>T	ENSP00000493495.1:p.Glu719Val
ENST00000644950.1:n.1504A>T
ENST00000645306.1:c.2150A>T	ENSP00000495218.1:p.Glu717Val
ENST00000645409.1:n.3076A>T
ENST00000645699.1:c.2156A>T	ENSP00000495348.1:p.Glu719Val
ENST00000646076.1:c.2156A>T	ENSP00000494538.1:p.Glu719Val
ENST00000646566.1:n.2634A>T
ENST00000646771.1:c.2150A>T	ENSP00000494443.1:p.Glu717Val
XM_005255775.2:c.2150A>T	XP_005255832.1:p.Glu717Val
XM_005255775.4:c.2150A>T	XP_005255832.1:p.Glu717Val
XM_017022868.1:c.2156A>T	XP_016878357.1:p.Glu719Val