Canonical Allele Identifier: CA2202936563

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736671C= , CM000678.2:g.3736671C=	GRCh38
NC_000016.9:g.3786672C= , CM000678.1:g.3786672C=	GRCh37
NC_000016.8:g.3726673C=	NCBI36
NG_009873.1:g.148450G=
NG_009873.2:g.149043G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4539G= MANE Select	ENSP00000262367.5:p.Glu1513=
ENST00000262367.9:c.4539G=	ENSP00000262367.5:p.Glu1513=
ENST00000382070.7:c.4425G=	ENSP00000371502.3:p.Glu1475=
ENST00000570939.2:c.3174G=	ENSP00000461002.2:p.Glu1058=
ENST00000571763.5:n.329G=
ENST00000574740.1:n.360G=
ENST00000576720.1:n.3362G=
NM_001079846.1:c.4425G=	NP_001073315.1:p.Glu1475=
NM_004380.2:c.4539G=	NP_004371.2:p.Glu1513=
XM_005255124.3:c.4494G=	XP_005255181.1:p.Glu1498=
XM_005255125.3:c.4122G=	XP_005255182.1:p.Glu1374=
XM_006720848.2:c.4278G=	XP_006720911.1:p.Glu1426=
XM_011522380.1:c.4485G=	XP_011520682.1:p.Glu1495=
XM_011522381.1:c.3786G=	XP_011520683.1:p.Glu1262=
XM_005255124.4:c.4494G=	XP_005255181.1:p.Glu1498=
XM_005255125.4:c.4122G=	XP_005255182.1:p.Glu1374=
XM_006720848.3:c.4278G=	XP_006720911.1:p.Glu1426=
XM_011522381.2:c.3786G=	XP_011520683.1:p.Glu1262=
XM_017022944.1:c.4533G=	XP_016878433.1:p.Glu1511=
NM_004380.3:c.4539G= MANE Select	NP_004371.2:p.Glu1513=