Canonical Allele Identifier: CA394557633

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729828T>C , CM000678.2:g.3729828T>C	GRCh38
NC_000016.9:g.3779829T>C , CM000678.1:g.3779829T>C	GRCh37
NC_000016.8:g.3719830T>C	NCBI36
NG_009873.1:g.155293A>G
NG_009873.2:g.155886A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.5219A>G MANE Select	NP_004371.2:p.His1740Arg
ENST00000262367.10:c.5219A>G MANE Select	ENSP00000262367.5:p.His1740Arg
NM_001079846.1:c.5105A>G	NP_001073315.1:p.His1702Arg
NM_004380.2:c.5219A>G	NP_004371.2:p.His1740Arg
ENST00000262367.9:c.5219A>G	ENSP00000262367.5:p.His1740Arg
ENST00000382070.7:c.5105A>G	ENSP00000371502.3:p.His1702Arg
XM_005255124.3:c.5174A>G	XP_005255181.1:p.His1725Arg
XM_005255124.4:c.5174A>G	XP_005255181.1:p.His1725Arg
XM_005255125.3:c.4802A>G	XP_005255182.1:p.His1601Arg
XM_005255125.4:c.4802A>G	XP_005255182.1:p.His1601Arg
XM_006720848.2:c.4958A>G	XP_006720911.1:p.His1653Arg
XM_006720848.3:c.4958A>G	XP_006720911.1:p.His1653Arg
XM_011522380.1:c.5165A>G	XP_011520682.1:p.His1722Arg
XM_011522381.1:c.4466A>G	XP_011520683.1:p.His1489Arg
XM_011522381.2:c.4466A>G	XP_011520683.1:p.His1489Arg
XM_017022944.1:c.5213A>G	XP_016878433.1:p.His1738Arg