Canonical Allele Identifier: CA2202928318

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727742T= , CM000678.2:g.3727742T=	GRCh38
NC_000016.9:g.3777743T= , CM000678.1:g.3777743T=	GRCh37
NC_000016.8:g.3717744T=	NCBI36
NG_009873.1:g.157379A=
NG_009873.2:g.157972A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7305A= MANE Select	ENSP00000262367.5:p.Leu2435=
ENST00000262367.9:c.7305A=	ENSP00000262367.5:p.Leu2435=
ENST00000382070.7:c.7191A=	ENSP00000371502.3:p.Leu2397=
NM_001079846.1:c.7191A=	NP_001073315.1:p.Leu2397=
NM_004380.2:c.7305A=	NP_004371.2:p.Leu2435=
XM_005255124.3:c.7260A=	XP_005255181.1:p.Leu2420=
XM_005255125.3:c.6888A=	XP_005255182.1:p.Leu2296=
XM_006720848.2:c.7044A=	XP_006720911.1:p.Leu2348=
XM_011522380.1:c.7251A=	XP_011520682.1:p.Leu2417=
XM_011522381.1:c.6552A=	XP_011520683.1:p.Leu2184=
XM_005255124.4:c.7260A=	XP_005255181.1:p.Leu2420=
XM_005255125.4:c.6888A=	XP_005255182.1:p.Leu2296=
XM_006720848.3:c.7044A=	XP_006720911.1:p.Leu2348=
XM_011522381.2:c.6552A=	XP_011520683.1:p.Leu2184=
XM_017022944.1:c.7299A=	XP_016878433.1:p.Leu2433=
NM_004380.3:c.7305A= MANE Select	NP_004371.2:p.Leu2435=