Canonical Allele Identifier: CA2202928474

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728093T= , CM000678.2:g.3728093T=	GRCh38
NC_000016.9:g.3778094T= , CM000678.1:g.3778094T=	GRCh37
NC_000016.8:g.3718095T=	NCBI36
NG_009873.1:g.157028A=
NG_009873.2:g.157621A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6954A= MANE Select	ENSP00000262367.5:p.Gln2318=
ENST00000262367.9:c.6954A=	ENSP00000262367.5:p.Gln2318=
ENST00000382070.7:c.6840A=	ENSP00000371502.3:p.Gln2280=
NM_001079846.1:c.6840A=	NP_001073315.1:p.Gln2280=
NM_004380.2:c.6954A=	NP_004371.2:p.Gln2318=
XM_005255124.3:c.6909A=	XP_005255181.1:p.Gln2303=
XM_005255125.3:c.6537A=	XP_005255182.1:p.Gln2179=
XM_006720848.2:c.6693A=	XP_006720911.1:p.Gln2231=
XM_011522380.1:c.6900A=	XP_011520682.1:p.Gln2300=
XM_011522381.1:c.6201A=	XP_011520683.1:p.Gln2067=
XM_005255124.4:c.6909A=	XP_005255181.1:p.Gln2303=
XM_005255125.4:c.6537A=	XP_005255182.1:p.Gln2179=
XM_006720848.3:c.6693A=	XP_006720911.1:p.Gln2231=
XM_011522381.2:c.6201A=	XP_011520683.1:p.Gln2067=
XM_017022944.1:c.6948A=	XP_016878433.1:p.Gln2316=
NM_004380.3:c.6954A= MANE Select	NP_004371.2:p.Gln2318=