Canonical Allele Identifier: CA2202938946

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3738616C= , CM000678.2:g.3738616C=	GRCh38
NC_000016.9:g.3788617C= , CM000678.1:g.3788617C=	GRCh37
NC_000016.8:g.3728618C=	NCBI36
NG_009873.1:g.146505G=
NG_009873.2:g.147098G=

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4337G= MANE Select	NP_004371.2:p.Arg1446=
ENST00000262367.10:c.4337G= MANE Select	ENSP00000262367.5:p.Arg1446=
NM_001079846.1:c.4223G=	NP_001073315.1:p.Arg1408=
NM_004380.2:c.4337G=	NP_004371.2:p.Arg1446=
ENST00000262367.9:c.4337G=	ENSP00000262367.5:p.Arg1446=
ENST00000382070.7:c.4223G=	ENSP00000371502.3:p.Arg1408=
ENST00000570939.2:c.2972G=	ENSP00000461002.2:p.Arg991=
ENST00000574740.1:n.215+1783G=
ENST00000576720.1:n.3217+962G=
XM_005255124.3:c.4292G=	XP_005255181.1:p.Arg1431=
XM_005255124.4:c.4292G=	XP_005255181.1:p.Arg1431=
XM_005255125.3:c.3920G=	XP_005255182.1:p.Arg1307=
XM_005255125.4:c.3920G=	XP_005255182.1:p.Arg1307=
XM_006720848.2:c.4133+1783G=	XP_006720911.1:n.4133+1783G=
XM_006720848.3:c.4133+1783G=	XP_006720911.1:n.4133+1783G=
XM_011522380.1:c.4283G=	XP_011520682.1:p.Arg1428=
XM_011522381.1:c.3584G=	XP_011520683.1:p.Arg1195=
XM_011522381.2:c.3584G=	XP_011520683.1:p.Arg1195=
XM_017022944.1:c.4331G=	XP_016878433.1:p.Arg1444=