Canonical Allele Identifier: CA2202928436

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727994A= , CM000678.2:g.3727994A=	GRCh38
NC_000016.9:g.3777995A= , CM000678.1:g.3777995A=	GRCh37
NC_000016.8:g.3717996A=	NCBI36
NG_009873.1:g.157127T=
NG_009873.2:g.157720T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7053T= MANE Select	ENSP00000262367.5:p.Ser2351=
ENST00000262367.9:c.7053T=	ENSP00000262367.5:p.Ser2351=
ENST00000382070.7:c.6939T=	ENSP00000371502.3:p.Ser2313=
NM_001079846.1:c.6939T=	NP_001073315.1:p.Ser2313=
NM_004380.2:c.7053T=	NP_004371.2:p.Ser2351=
XM_005255124.3:c.7008T=	XP_005255181.1:p.Ser2336=
XM_005255125.3:c.6636T=	XP_005255182.1:p.Ser2212=
XM_006720848.2:c.6792T=	XP_006720911.1:p.Ser2264=
XM_011522380.1:c.6999T=	XP_011520682.1:p.Ser2333=
XM_011522381.1:c.6300T=	XP_011520683.1:p.Ser2100=
XM_005255124.4:c.7008T=	XP_005255181.1:p.Ser2336=
XM_005255125.4:c.6636T=	XP_005255182.1:p.Ser2212=
XM_006720848.3:c.6792T=	XP_006720911.1:p.Ser2264=
XM_011522381.2:c.6300T=	XP_011520683.1:p.Ser2100=
XM_017022944.1:c.7047T=	XP_016878433.1:p.Ser2349=
NM_004380.3:c.7053T= MANE Select	NP_004371.2:p.Ser2351=