Canonical Allele Identifier: CA2202928400

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727911T= , CM000678.2:g.3727911T=	GRCh38
NC_000016.9:g.3777912T= , CM000678.1:g.3777912T=	GRCh37
NC_000016.8:g.3717913T=	NCBI36
NG_009873.1:g.157210A=
NG_009873.2:g.157803A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7136A= MANE Select	ENSP00000262367.5:p.Gln2379=
ENST00000262367.9:c.7136A=	ENSP00000262367.5:p.Gln2379=
ENST00000382070.7:c.7022A=	ENSP00000371502.3:p.Gln2341=
NM_001079846.1:c.7022A=	NP_001073315.1:p.Gln2341=
NM_004380.2:c.7136A=	NP_004371.2:p.Gln2379=
XM_005255124.3:c.7091A=	XP_005255181.1:p.Gln2364=
XM_005255125.3:c.6719A=	XP_005255182.1:p.Gln2240=
XM_006720848.2:c.6875A=	XP_006720911.1:p.Gln2292=
XM_011522380.1:c.7082A=	XP_011520682.1:p.Gln2361=
XM_011522381.1:c.6383A=	XP_011520683.1:p.Gln2128=
XM_005255124.4:c.7091A=	XP_005255181.1:p.Gln2364=
XM_005255125.4:c.6719A=	XP_005255182.1:p.Gln2240=
XM_006720848.3:c.6875A=	XP_006720911.1:p.Gln2292=
XM_011522381.2:c.6383A=	XP_011520683.1:p.Gln2128=
XM_017022944.1:c.7130A=	XP_016878433.1:p.Gln2377=
NM_004380.3:c.7136A= MANE Select	NP_004371.2:p.Gln2379=