Canonical Allele Identifier: CA2202940798

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740412C= , CM000678.2:g.3740412C=	GRCh38
NC_000016.9:g.3790413C= , CM000678.1:g.3790413C=	GRCh37
NC_000016.8:g.3730414C=	NCBI36
NG_009873.1:g.144709G=
NG_009873.2:g.145302G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4120G= MANE Select	ENSP00000262367.5:p.Gly1374=
ENST00000262367.9:c.4120G=	ENSP00000262367.5:p.Gly1374=
ENST00000382070.7:c.4006G=	ENSP00000371502.3:p.Gly1336=
ENST00000570939.2:c.2755G=	ENSP00000461002.2:p.Gly919=
ENST00000573517.6:c.426G=
ENST00000574740.1:n.202G=
ENST00000576720.1:n.3057G=
NM_001079846.1:c.4006G=	NP_001073315.1:p.Gly1336=
NM_004380.2:c.4120G=	NP_004371.2:p.Gly1374=
XM_005255124.3:c.4075G=	XP_005255181.1:p.Gly1359=
XM_005255125.3:c.3703G=	XP_005255182.1:p.Gly1235=
XM_006720848.2:c.4120G=	XP_006720911.1:p.Gly1374=
XM_011522380.1:c.4066G=	XP_011520682.1:p.Gly1356=
XM_011522381.1:c.3367G=	XP_011520683.1:p.Gly1123=
XM_005255124.4:c.4075G=	XP_005255181.1:p.Gly1359=
XM_005255125.4:c.3703G=	XP_005255182.1:p.Gly1235=
XM_006720848.3:c.4120G=	XP_006720911.1:p.Gly1374=
XM_011522381.2:c.3367G=	XP_011520683.1:p.Gly1123=
XM_017022944.1:c.4114G=	XP_016878433.1:p.Gly1372=
NM_004380.3:c.4120G= MANE Select	NP_004371.2:p.Gly1374=