Canonical Allele Identifier: CA2202928854

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728797G= , CM000678.2:g.3728797G=	GRCh38
NC_000016.9:g.3778798G= , CM000678.1:g.3778798G=	GRCh37
NC_000016.8:g.3718799G=	NCBI36
NG_009873.1:g.156324C=
NG_009873.2:g.156917C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6250C= MANE Select	ENSP00000262367.5:p.Gln2084=
ENST00000262367.9:c.6250C=	ENSP00000262367.5:p.Gln2084=
ENST00000382070.7:c.6136C=	ENSP00000371502.3:p.Gln2046=
NM_001079846.1:c.6136C=	NP_001073315.1:p.Gln2046=
NM_004380.2:c.6250C=	NP_004371.2:p.Gln2084=
XM_005255124.3:c.6205C=	XP_005255181.1:p.Gln2069=
XM_005255125.3:c.5833C=	XP_005255182.1:p.Gln1945=
XM_006720848.2:c.5989C=	XP_006720911.1:p.Gln1997=
XM_011522380.1:c.6196C=	XP_011520682.1:p.Gln2066=
XM_011522381.1:c.5497C=	XP_011520683.1:p.Gln1833=
XM_005255124.4:c.6205C=	XP_005255181.1:p.Gln2069=
XM_005255125.4:c.5833C=	XP_005255182.1:p.Gln1945=
XM_006720848.3:c.5989C=	XP_006720911.1:p.Gln1997=
XM_011522381.2:c.5497C=	XP_011520683.1:p.Gln1833=
XM_017022944.1:c.6244C=	XP_016878433.1:p.Gln2082=
NM_004380.3:c.6250C= MANE Select	NP_004371.2:p.Gln2084=