Canonical Allele Identifier: CA2202928458

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728049T= , CM000678.2:g.3728049T=	GRCh38
NC_000016.9:g.3778050T= , CM000678.1:g.3778050T=	GRCh37
NC_000016.8:g.3718051T=	NCBI36
NG_009873.1:g.157072A=
NG_009873.2:g.157665A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6998A= MANE Select	ENSP00000262367.5:p.Gln2333=
ENST00000262367.9:c.6998A=	ENSP00000262367.5:p.Gln2333=
ENST00000382070.7:c.6884A=	ENSP00000371502.3:p.Gln2295=
NM_001079846.1:c.6884A=	NP_001073315.1:p.Gln2295=
NM_004380.2:c.6998A=	NP_004371.2:p.Gln2333=
XM_005255124.3:c.6953A=	XP_005255181.1:p.Gln2318=
XM_005255125.3:c.6581A=	XP_005255182.1:p.Gln2194=
XM_006720848.2:c.6737A=	XP_006720911.1:p.Gln2246=
XM_011522380.1:c.6944A=	XP_011520682.1:p.Gln2315=
XM_011522381.1:c.6245A=	XP_011520683.1:p.Gln2082=
XM_005255124.4:c.6953A=	XP_005255181.1:p.Gln2318=
XM_005255125.4:c.6581A=	XP_005255182.1:p.Gln2194=
XM_006720848.3:c.6737A=	XP_006720911.1:p.Gln2246=
XM_011522381.2:c.6245A=	XP_011520683.1:p.Gln2082=
XM_017022944.1:c.6992A=	XP_016878433.1:p.Gln2331=
NM_004380.3:c.6998A= MANE Select	NP_004371.2:p.Gln2333=