Canonical Allele Identifier: CA2202936685

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736758G= , CM000678.2:g.3736758G=	GRCh38
NC_000016.9:g.3786759G= , CM000678.1:g.3786759G=	GRCh37
NC_000016.8:g.3726760G=	NCBI36
NG_009873.1:g.148363C=
NG_009873.2:g.148956C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4452C= MANE Select	ENSP00000262367.5:p.Phe1484=
ENST00000262367.9:c.4452C=	ENSP00000262367.5:p.Phe1484=
ENST00000382070.7:c.4338C=	ENSP00000371502.3:p.Phe1446=
ENST00000570939.2:c.3087C=	ENSP00000461002.2:p.Phe1029=
ENST00000571763.5:n.242C=
ENST00000574740.1:n.273C=
ENST00000576720.1:n.3275C=
NM_001079846.1:c.4338C=	NP_001073315.1:p.Phe1446=
NM_004380.2:c.4452C=	NP_004371.2:p.Phe1484=
XM_005255124.3:c.4407C=	XP_005255181.1:p.Phe1469=
XM_005255125.3:c.4035C=	XP_005255182.1:p.Phe1345=
XM_006720848.2:c.4191C=	XP_006720911.1:p.Phe1397=
XM_011522380.1:c.4398C=	XP_011520682.1:p.Phe1466=
XM_011522381.1:c.3699C=	XP_011520683.1:p.Phe1233=
XM_005255124.4:c.4407C=	XP_005255181.1:p.Phe1469=
XM_005255125.4:c.4035C=	XP_005255182.1:p.Phe1345=
XM_006720848.3:c.4191C=	XP_006720911.1:p.Phe1397=
XM_011522381.2:c.3699C=	XP_011520683.1:p.Phe1233=
XM_017022944.1:c.4446C=	XP_016878433.1:p.Phe1482=
NM_004380.3:c.4452C= MANE Select	NP_004371.2:p.Phe1484=