Canonical Allele Identifier: CA2202939939

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739681T= , CM000678.2:g.3739681T=	GRCh38
NC_000016.9:g.3789682T= , CM000678.1:g.3789682T=	GRCh37
NC_000016.8:g.3729683T=	NCBI36
NG_009873.1:g.145440A=
NG_009873.2:g.146033A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4177A= MANE Select	ENSP00000262367.5:p.Thr1393=
ENST00000262367.9:c.4177A=	ENSP00000262367.5:p.Thr1393=
ENST00000382070.7:c.4063A=	ENSP00000371502.3:p.Thr1355=
ENST00000570939.2:c.2812A=	ENSP00000461002.2:p.Thr938=
ENST00000573517.6:c.483A=
ENST00000574740.1:n.215+718A=
ENST00000576720.1:n.3114A=
NM_001079846.1:c.4063A=	NP_001073315.1:p.Thr1355=
NM_004380.2:c.4177A=	NP_004371.2:p.Thr1393=
XM_005255124.3:c.4132A=	XP_005255181.1:p.Thr1378=
XM_005255125.3:c.3760A=	XP_005255182.1:p.Thr1254=
XM_006720848.2:c.4133+718A=	XP_006720911.1:n.4133+718A=
XM_011522380.1:c.4123A=	XP_011520682.1:p.Thr1375=
XM_011522381.1:c.3424A=	XP_011520683.1:p.Thr1142=
XM_005255124.4:c.4132A=	XP_005255181.1:p.Thr1378=
XM_005255125.4:c.3760A=	XP_005255182.1:p.Thr1254=
XM_006720848.3:c.4133+718A=	XP_006720911.1:n.4133+718A=
XM_011522381.2:c.3424A=	XP_011520683.1:p.Thr1142=
XM_017022944.1:c.4171A=	XP_016878433.1:p.Thr1391=
NM_004380.3:c.4177A= MANE Select	NP_004371.2:p.Thr1393=