Canonical Allele Identifier: CA2202939933

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739674G= , CM000678.2:g.3739674G=	GRCh38
NC_000016.9:g.3789675G= , CM000678.1:g.3789675G=	GRCh37
NC_000016.8:g.3729676G=	NCBI36
NG_009873.1:g.145447C=
NG_009873.2:g.146040C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4184C= MANE Select	ENSP00000262367.5:p.Ala1395=
ENST00000262367.9:c.4184C=	ENSP00000262367.5:p.Ala1395=
ENST00000382070.7:c.4070C=	ENSP00000371502.3:p.Ala1357=
ENST00000570939.2:c.2819C=	ENSP00000461002.2:p.Ala940=
ENST00000573517.6:c.490C=
ENST00000574740.1:n.215+725C=
ENST00000576720.1:n.3121C=
NM_001079846.1:c.4070C=	NP_001073315.1:p.Ala1357=
NM_004380.2:c.4184C=	NP_004371.2:p.Ala1395=
XM_005255124.3:c.4139C=	XP_005255181.1:p.Ala1380=
XM_005255125.3:c.3767C=	XP_005255182.1:p.Ala1256=
XM_006720848.2:c.4133+725C=	XP_006720911.1:n.4133+725C=
XM_011522380.1:c.4130C=	XP_011520682.1:p.Ala1377=
XM_011522381.1:c.3431C=	XP_011520683.1:p.Ala1144=
XM_005255124.4:c.4139C=	XP_005255181.1:p.Ala1380=
XM_005255125.4:c.3767C=	XP_005255182.1:p.Ala1256=
XM_006720848.3:c.4133+725C=	XP_006720911.1:n.4133+725C=
XM_011522381.2:c.3431C=	XP_011520683.1:p.Ala1144=
XM_017022944.1:c.4178C=	XP_016878433.1:p.Ala1393=
NM_004380.3:c.4184C= MANE Select	NP_004371.2:p.Ala1395=