Canonical Allele Identifier: CA2202916630

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729866G= , CM000678.2:g.3729866G=	GRCh38
NC_000016.9:g.3779867G= , CM000678.1:g.3779867G=	GRCh37
NC_000016.8:g.3719868G=	NCBI36
NG_009873.1:g.155255C=
NG_009873.2:g.155848C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5181C= MANE Select	ENSP00000262367.5:p.Asp1727=
ENST00000262367.9:c.5181C=	ENSP00000262367.5:p.Asp1727=
ENST00000382070.7:c.5067C=	ENSP00000371502.3:p.Asp1689=
NM_001079846.1:c.5067C=	NP_001073315.1:p.Asp1689=
NM_004380.2:c.5181C=	NP_004371.2:p.Asp1727=
XM_005255124.3:c.5136C=	XP_005255181.1:p.Asp1712=
XM_005255125.3:c.4764C=	XP_005255182.1:p.Asp1588=
XM_006720848.2:c.4920C=	XP_006720911.1:p.Asp1640=
XM_011522380.1:c.5127C=	XP_011520682.1:p.Asp1709=
XM_011522381.1:c.4428C=	XP_011520683.1:p.Asp1476=
XM_005255124.4:c.5136C=	XP_005255181.1:p.Asp1712=
XM_005255125.4:c.4764C=	XP_005255182.1:p.Asp1588=
XM_006720848.3:c.4920C=	XP_006720911.1:p.Asp1640=
XM_011522381.2:c.4428C=	XP_011520683.1:p.Asp1476=
XM_017022944.1:c.5175C=	XP_016878433.1:p.Asp1725=
NM_004380.3:c.5181C= MANE Select	NP_004371.2:p.Asp1727=