Canonical Allele Identifier: CA2202928435

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727990G= , CM000678.2:g.3727990G=	GRCh38
NC_000016.9:g.3777991G= , CM000678.1:g.3777991G=	GRCh37
NC_000016.8:g.3717992G=	NCBI36
NG_009873.1:g.157131C=
NG_009873.2:g.157724C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7057C= MANE Select	ENSP00000262367.5:p.Arg2353=
ENST00000262367.9:c.7057C=	ENSP00000262367.5:p.Arg2353=
ENST00000382070.7:c.6943C=	ENSP00000371502.3:p.Arg2315=
NM_001079846.1:c.6943C=	NP_001073315.1:p.Arg2315=
NM_004380.2:c.7057C=	NP_004371.2:p.Arg2353=
XM_005255124.3:c.7012C=	XP_005255181.1:p.Arg2338=
XM_005255125.3:c.6640C=	XP_005255182.1:p.Arg2214=
XM_006720848.2:c.6796C=	XP_006720911.1:p.Arg2266=
XM_011522380.1:c.7003C=	XP_011520682.1:p.Arg2335=
XM_011522381.1:c.6304C=	XP_011520683.1:p.Arg2102=
XM_005255124.4:c.7012C=	XP_005255181.1:p.Arg2338=
XM_005255125.4:c.6640C=	XP_005255182.1:p.Arg2214=
XM_006720848.3:c.6796C=	XP_006720911.1:p.Arg2266=
XM_011522381.2:c.6304C=	XP_011520683.1:p.Arg2102=
XM_017022944.1:c.7051C=	XP_016878433.1:p.Arg2351=
NM_004380.3:c.7057C= MANE Select	NP_004371.2:p.Arg2353=