Canonical Allele Identifier: CA2202928466

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728067G= , CM000678.2:g.3728067G=	GRCh38
NC_000016.9:g.3778068G= , CM000678.1:g.3778068G=	GRCh37
NC_000016.8:g.3718069G=	NCBI36
NG_009873.1:g.157054C=
NG_009873.2:g.157647C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6980C= MANE Select	ENSP00000262367.5:p.Ala2327=
ENST00000262367.9:c.6980C=	ENSP00000262367.5:p.Ala2327=
ENST00000382070.7:c.6866C=	ENSP00000371502.3:p.Ala2289=
NM_001079846.1:c.6866C=	NP_001073315.1:p.Ala2289=
NM_004380.2:c.6980C=	NP_004371.2:p.Ala2327=
XM_005255124.3:c.6935C=	XP_005255181.1:p.Ala2312=
XM_005255125.3:c.6563C=	XP_005255182.1:p.Ala2188=
XM_006720848.2:c.6719C=	XP_006720911.1:p.Ala2240=
XM_011522380.1:c.6926C=	XP_011520682.1:p.Ala2309=
XM_011522381.1:c.6227C=	XP_011520683.1:p.Ala2076=
XM_005255124.4:c.6935C=	XP_005255181.1:p.Ala2312=
XM_005255125.4:c.6563C=	XP_005255182.1:p.Ala2188=
XM_006720848.3:c.6719C=	XP_006720911.1:p.Ala2240=
XM_011522381.2:c.6227C=	XP_011520683.1:p.Ala2076=
XM_017022944.1:c.6974C=	XP_016878433.1:p.Ala2325=
NM_004380.3:c.6980C= MANE Select	NP_004371.2:p.Ala2327=