Canonical Allele Identifier: CA2202936683

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736752G= , CM000678.2:g.3736752G=	GRCh38
NC_000016.9:g.3786753G= , CM000678.1:g.3786753G=	GRCh37
NC_000016.8:g.3726754G=	NCBI36
NG_009873.1:g.148369C=
NG_009873.2:g.148962C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4458C= MANE Select	ENSP00000262367.5:p.Cys1486=
ENST00000262367.9:c.4458C=	ENSP00000262367.5:p.Cys1486=
ENST00000382070.7:c.4344C=	ENSP00000371502.3:p.Cys1448=
ENST00000570939.2:c.3093C=	ENSP00000461002.2:p.Cys1031=
ENST00000571763.5:n.248C=
ENST00000574740.1:n.279C=
ENST00000576720.1:n.3281C=
NM_001079846.1:c.4344C=	NP_001073315.1:p.Cys1448=
NM_004380.2:c.4458C=	NP_004371.2:p.Cys1486=
XM_005255124.3:c.4413C=	XP_005255181.1:p.Cys1471=
XM_005255125.3:c.4041C=	XP_005255182.1:p.Cys1347=
XM_006720848.2:c.4197C=	XP_006720911.1:p.Cys1399=
XM_011522380.1:c.4404C=	XP_011520682.1:p.Cys1468=
XM_011522381.1:c.3705C=	XP_011520683.1:p.Cys1235=
XM_005255124.4:c.4413C=	XP_005255181.1:p.Cys1471=
XM_005255125.4:c.4041C=	XP_005255182.1:p.Cys1347=
XM_006720848.3:c.4197C=	XP_006720911.1:p.Cys1399=
XM_011522381.2:c.3705C=	XP_011520683.1:p.Cys1235=
XM_017022944.1:c.4452C=	XP_016878433.1:p.Cys1484=
NM_004380.3:c.4458C= MANE Select	NP_004371.2:p.Cys1486=