Canonical Allele Identifier: CA396312315
Community Standard Title: NM_006565.4(CTCF):c.1033C>T (p.His345Tyr)
Gene: CTCF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67616825C>T , CM000678.2:g.67616825C>T GRCh38
NC_000016.9:g.67650728C>T , CM000678.1:g.67650728C>T GRCh37
NC_000016.8:g.66208229C>T NCBI36
NG_033892.1:g.59419C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006565.4:c.1033C>T MANE Select NP_006556.1:p.His345Tyr
ENST00000264010.10:c.1033C>T MANE Select ENSP00000264010.4:p.His345Tyr
NM_001191022.1:c.49C>T NP_001177951.1:p.His17Tyr
NM_001191022.2:c.49C>T NP_001177951.1:p.His17Tyr
NM_001363916.1:c.1033C>T NP_001350845.1:p.His345Tyr
NM_006565.3:c.1033C>T NP_006556.1:p.His345Tyr
ENST00000264010.8:c.1033C>T ENSP00000264010.4:p.His345Tyr
ENST00000401394.5:c.49C>T ENSP00000384707.1:p.His17Tyr
ENST00000401394.6:c.49C>T ENSP00000384707.1:p.His17Tyr
ENST00000642819.1:c.1033C>T ENSP00000494408.1:p.His345Tyr
ENST00000642943.1:n.2498C>T
ENST00000643892.1:c.1033C>T ENSP00000494358.1:p.His345Tyr
ENST00000644753.1:c.1033C>T ENSP00000493495.1:p.His345Tyr
ENST00000645306.1:c.1033C>T ENSP00000495218.1:p.His345Tyr
ENST00000645409.1:n.1863C>T
ENST00000645699.1:c.1033C>T ENSP00000495348.1:p.His345Tyr
ENST00000646076.1:c.1033C>T ENSP00000494538.1:p.His345Tyr
ENST00000646566.1:n.1517C>T
ENST00000646771.1:c.1033C>T ENSP00000494443.1:p.His345Tyr
XM_005255775.2:c.1033C>T XP_005255832.1:p.His345Tyr
XM_005255775.4:c.1033C>T XP_005255832.1:p.His345Tyr
XM_017022868.1:c.1033C>T XP_016878357.1:p.His345Tyr