Canonical Allele Identifier: CA2202938883

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3738577T= , CM000678.2:g.3738577T=	GRCh38
NC_000016.9:g.3788578T= , CM000678.1:g.3788578T=	GRCh37
NC_000016.8:g.3728579T=	NCBI36
NG_009873.1:g.146544A=
NG_009873.2:g.147137A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4376A= MANE Select	ENSP00000262367.5:p.Glu1459=
ENST00000262367.9:c.4376A=	ENSP00000262367.5:p.Glu1459=
ENST00000382070.7:c.4262A=	ENSP00000371502.3:p.Glu1421=
ENST00000570939.2:c.3011A=	ENSP00000461002.2:p.Glu1004=
ENST00000574740.1:n.216-1762A=
ENST00000576720.1:n.3217+1001A=
NM_001079846.1:c.4262A=	NP_001073315.1:p.Glu1421=
NM_004380.2:c.4376A=	NP_004371.2:p.Glu1459=
XM_005255124.3:c.4331A=	XP_005255181.1:p.Glu1444=
XM_005255125.3:c.3959A=	XP_005255182.1:p.Glu1320=
XM_006720848.2:c.4134-1762A=	XP_006720911.1:n.4134-1762A=
XM_011522380.1:c.4322A=	XP_011520682.1:p.Glu1441=
XM_011522381.1:c.3623A=	XP_011520683.1:p.Glu1208=
XM_005255124.4:c.4331A=	XP_005255181.1:p.Glu1444=
XM_005255125.4:c.3959A=	XP_005255182.1:p.Glu1320=
XM_006720848.3:c.4134-1762A=	XP_006720911.1:n.4134-1762A=
XM_011522381.2:c.3623A=	XP_011520683.1:p.Glu1208=
XM_017022944.1:c.4370A=	XP_016878433.1:p.Glu1457=
NM_004380.3:c.4376A= MANE Select	NP_004371.2:p.Glu1459=