Canonical Allele Identifier: CA2202928335

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727780C= , CM000678.2:g.3727780C=	GRCh38
NC_000016.9:g.3777781C= , CM000678.1:g.3777781C=	GRCh37
NC_000016.8:g.3717782C=	NCBI36
NG_009873.1:g.157341G=
NG_009873.2:g.157934G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7267G= MANE Select	ENSP00000262367.5:p.Glu2423=
ENST00000262367.9:c.7267G=	ENSP00000262367.5:p.Glu2423=
ENST00000382070.7:c.7153G=	ENSP00000371502.3:p.Glu2385=
NM_001079846.1:c.7153G=	NP_001073315.1:p.Glu2385=
NM_004380.2:c.7267G=	NP_004371.2:p.Glu2423=
XM_005255124.3:c.7222G=	XP_005255181.1:p.Glu2408=
XM_005255125.3:c.6850G=	XP_005255182.1:p.Glu2284=
XM_006720848.2:c.7006G=	XP_006720911.1:p.Glu2336=
XM_011522380.1:c.7213G=	XP_011520682.1:p.Glu2405=
XM_011522381.1:c.6514G=	XP_011520683.1:p.Glu2172=
XM_005255124.4:c.7222G=	XP_005255181.1:p.Glu2408=
XM_005255125.4:c.6850G=	XP_005255182.1:p.Glu2284=
XM_006720848.3:c.7006G=	XP_006720911.1:p.Glu2336=
XM_011522381.2:c.6514G=	XP_011520683.1:p.Glu2172=
XM_017022944.1:c.7261G=	XP_016878433.1:p.Glu2421=
NM_004380.3:c.7267G= MANE Select	NP_004371.2:p.Glu2423=