Canonical Allele Identifier: CA396305012

Gene: CTCF

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67611220T>C , CM000678.2:g.67611220T>C	GRCh38
NC_000016.9:g.67645123T>C , CM000678.1:g.67645123T>C	GRCh37
NC_000016.8:g.66202624T>C	NCBI36
NG_033892.1:g.53814T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006565.4:c.388T>C MANE Select	NP_006556.1:p.Ser130Pro
ENST00000264010.10:c.388T>C MANE Select	ENSP00000264010.4:p.Ser130Pro
NM_001191022.1:c.-32-5525T>C	NP_001177951.1:n.-32-5525T>C
NM_001191022.2:c.-32-5525T>C	NP_001177951.1:n.-32-5525T>C
NM_001363916.1:c.388T>C	NP_001350845.1:p.Ser130Pro
NM_006565.3:c.388T>C	NP_006556.1:p.Ser130Pro
ENST00000264010.8:c.388T>C	ENSP00000264010.4:p.Ser130Pro
ENST00000401394.5:c.-32-5525T>C	ENSP00000384707.1:n.-32-5525T>C
ENST00000401394.6:c.-32-5525T>C	ENSP00000384707.1:n.-32-5525T>C
ENST00000566078.1:n.701T>C
ENST00000566078.2:n.394T>C
ENST00000642819.1:c.388T>C	ENSP00000494408.1:p.Ser130Pro
ENST00000642847.1:c.388T>C	ENSP00000495923.1:p.Ser130Pro
ENST00000643892.1:c.388T>C	ENSP00000494358.1:p.Ser130Pro
ENST00000644753.1:c.388T>C	ENSP00000493495.1:p.Ser130Pro
ENST00000644852.1:c.388T>C	ENSP00000495115.1:p.Ser130Pro
ENST00000645306.1:c.388T>C	ENSP00000495218.1:p.Ser130Pro
ENST00000645699.1:c.388T>C	ENSP00000495348.1:p.Ser130Pro
ENST00000646076.1:c.388T>C	ENSP00000494538.1:p.Ser130Pro
ENST00000646771.1:c.388T>C	ENSP00000494443.1:p.Ser130Pro
XM_005255775.2:c.388T>C	XP_005255832.1:p.Ser130Pro
XM_005255775.4:c.388T>C	XP_005255832.1:p.Ser130Pro
XM_017022868.1:c.388T>C	XP_016878357.1:p.Ser130Pro