Canonical Allele Identifier: CA2202936635

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736720T= , CM000678.2:g.3736720T=	GRCh38
NC_000016.9:g.3786721T= , CM000678.1:g.3786721T=	GRCh37
NC_000016.8:g.3726722T=	NCBI36
NG_009873.1:g.148401A=
NG_009873.2:g.148994A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4490A= MANE Select	ENSP00000262367.5:p.Lys1497=
ENST00000262367.9:c.4490A=	ENSP00000262367.5:p.Lys1497=
ENST00000382070.7:c.4376A=	ENSP00000371502.3:p.Lys1459=
ENST00000570939.2:c.3125A=	ENSP00000461002.2:p.Lys1042=
ENST00000571763.5:n.280A=
ENST00000574740.1:n.311A=
ENST00000576720.1:n.3313A=
NM_001079846.1:c.4376A=	NP_001073315.1:p.Lys1459=
NM_004380.2:c.4490A=	NP_004371.2:p.Lys1497=
XM_005255124.3:c.4445A=	XP_005255181.1:p.Lys1482=
XM_005255125.3:c.4073A=	XP_005255182.1:p.Lys1358=
XM_006720848.2:c.4229A=	XP_006720911.1:p.Lys1410=
XM_011522380.1:c.4436A=	XP_011520682.1:p.Lys1479=
XM_011522381.1:c.3737A=	XP_011520683.1:p.Lys1246=
XM_005255124.4:c.4445A=	XP_005255181.1:p.Lys1482=
XM_005255125.4:c.4073A=	XP_005255182.1:p.Lys1358=
XM_006720848.3:c.4229A=	XP_006720911.1:p.Lys1410=
XM_011522381.2:c.3737A=	XP_011520683.1:p.Lys1246=
XM_017022944.1:c.4484A=	XP_016878433.1:p.Lys1495=
NM_004380.3:c.4490A= MANE Select	NP_004371.2:p.Lys1497=