Canonical Allele Identifier: CA2202940782

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740399C= , CM000678.2:g.3740399C=	GRCh38
NC_000016.9:g.3790400C= , CM000678.1:g.3790400C=	GRCh37
NC_000016.8:g.3730401C=	NCBI36
NG_009873.1:g.144722G=
NG_009873.2:g.145315G=

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4133G= MANE Select	NP_004371.2:p.Arg1378=
ENST00000262367.10:c.4133G= MANE Select	ENSP00000262367.5:p.Arg1378=
NM_001079846.1:c.4019G=	NP_001073315.1:p.Arg1340=
NM_004380.2:c.4133G=	NP_004371.2:p.Arg1378=
ENST00000262367.9:c.4133G=	ENSP00000262367.5:p.Arg1378=
ENST00000382070.7:c.4019G=	ENSP00000371502.3:p.Arg1340=
ENST00000570939.2:c.2768G=	ENSP00000461002.2:p.Arg923=
ENST00000573517.6:c.439G=
ENST00000574740.1:n.215G=
ENST00000576720.1:n.3070G=
XM_005255124.3:c.4088G=	XP_005255181.1:p.Arg1363=
XM_005255124.4:c.4088G=	XP_005255181.1:p.Arg1363=
XM_005255125.3:c.3716G=	XP_005255182.1:p.Arg1239=
XM_005255125.4:c.3716G=	XP_005255182.1:p.Arg1239=
XM_006720848.2:c.4133G=	XP_006720911.1:p.Arg1378=
XM_006720848.3:c.4133G=	XP_006720911.1:p.Arg1378=
XM_011522380.1:c.4079G=	XP_011520682.1:p.Arg1360=
XM_011522381.1:c.3380G=	XP_011520683.1:p.Arg1127=
XM_011522381.2:c.3380G=	XP_011520683.1:p.Arg1127=
XM_017022944.1:c.4127G=	XP_016878433.1:p.Arg1376=