Canonical Allele Identifier: CA2202928473

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728091T= , CM000678.2:g.3728091T=	GRCh38
NC_000016.9:g.3778092T= , CM000678.1:g.3778092T=	GRCh37
NC_000016.8:g.3718093T=	NCBI36
NG_009873.1:g.157030A=
NG_009873.2:g.157623A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6956A= MANE Select	ENSP00000262367.5:p.His2319=
ENST00000262367.9:c.6956A=	ENSP00000262367.5:p.His2319=
ENST00000382070.7:c.6842A=	ENSP00000371502.3:p.His2281=
NM_001079846.1:c.6842A=	NP_001073315.1:p.His2281=
NM_004380.2:c.6956A=	NP_004371.2:p.His2319=
XM_005255124.3:c.6911A=	XP_005255181.1:p.His2304=
XM_005255125.3:c.6539A=	XP_005255182.1:p.His2180=
XM_006720848.2:c.6695A=	XP_006720911.1:p.His2232=
XM_011522380.1:c.6902A=	XP_011520682.1:p.His2301=
XM_011522381.1:c.6203A=	XP_011520683.1:p.His2068=
XM_005255124.4:c.6911A=	XP_005255181.1:p.His2304=
XM_005255125.4:c.6539A=	XP_005255182.1:p.His2180=
XM_006720848.3:c.6695A=	XP_006720911.1:p.His2232=
XM_011522381.2:c.6203A=	XP_011520683.1:p.His2068=
XM_017022944.1:c.6950A=	XP_016878433.1:p.His2317=
NM_004380.3:c.6956A= MANE Select	NP_004371.2:p.His2319=