Canonical Allele Identifier: CA394555993

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729477T>C , CM000678.2:g.3729477T>C	GRCh38
NC_000016.9:g.3779478T>C , CM000678.1:g.3779478T>C	GRCh37
NC_000016.8:g.3719479T>C	NCBI36
NG_009873.1:g.155644A>G
NG_009873.2:g.156237A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.5570A>G MANE Select	NP_004371.2:p.His1857Arg
ENST00000262367.10:c.5570A>G MANE Select	ENSP00000262367.5:p.His1857Arg
NM_001079846.1:c.5456A>G	NP_001073315.1:p.His1819Arg
NM_004380.2:c.5570A>G	NP_004371.2:p.His1857Arg
ENST00000262367.9:c.5570A>G	ENSP00000262367.5:p.His1857Arg
ENST00000382070.7:c.5456A>G	ENSP00000371502.3:p.His1819Arg
XM_005255124.3:c.5525A>G	XP_005255181.1:p.His1842Arg
XM_005255124.4:c.5525A>G	XP_005255181.1:p.His1842Arg
XM_005255125.3:c.5153A>G	XP_005255182.1:p.His1718Arg
XM_005255125.4:c.5153A>G	XP_005255182.1:p.His1718Arg
XM_006720848.2:c.5309A>G	XP_006720911.1:p.His1770Arg
XM_006720848.3:c.5309A>G	XP_006720911.1:p.His1770Arg
XM_011522380.1:c.5516A>G	XP_011520682.1:p.His1839Arg
XM_011522381.1:c.4817A>G	XP_011520683.1:p.His1606Arg
XM_011522381.2:c.4817A>G	XP_011520683.1:p.His1606Arg
XM_017022944.1:c.5564A>G	XP_016878433.1:p.His1855Arg