Canonical Allele Identifier: CA2202936607

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736707C= , CM000678.2:g.3736707C=	GRCh38
NC_000016.9:g.3786708C= , CM000678.1:g.3786708C=	GRCh37
NC_000016.8:g.3726709C=	NCBI36
NG_009873.1:g.148414G=
NG_009873.2:g.149007G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4503G= MANE Select	ENSP00000262367.5:p.Glu1501=
ENST00000262367.9:c.4503G=	ENSP00000262367.5:p.Glu1501=
ENST00000382070.7:c.4389G=	ENSP00000371502.3:p.Glu1463=
ENST00000570939.2:c.3138G=	ENSP00000461002.2:p.Glu1046=
ENST00000571763.5:n.293G=
ENST00000574740.1:n.324G=
ENST00000576720.1:n.3326G=
NM_001079846.1:c.4389G=	NP_001073315.1:p.Glu1463=
NM_004380.2:c.4503G=	NP_004371.2:p.Glu1501=
XM_005255124.3:c.4458G=	XP_005255181.1:p.Glu1486=
XM_005255125.3:c.4086G=	XP_005255182.1:p.Glu1362=
XM_006720848.2:c.4242G=	XP_006720911.1:p.Glu1414=
XM_011522380.1:c.4449G=	XP_011520682.1:p.Glu1483=
XM_011522381.1:c.3750G=	XP_011520683.1:p.Glu1250=
XM_005255124.4:c.4458G=	XP_005255181.1:p.Glu1486=
XM_005255125.4:c.4086G=	XP_005255182.1:p.Glu1362=
XM_006720848.3:c.4242G=	XP_006720911.1:p.Glu1414=
XM_011522381.2:c.3750G=	XP_011520683.1:p.Glu1250=
XM_017022944.1:c.4497G=	XP_016878433.1:p.Glu1499=
NM_004380.3:c.4503G= MANE Select	NP_004371.2:p.Glu1501=