Canonical Allele Identifier: CA2202928450

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728029T= , CM000678.2:g.3728029T=	GRCh38
NC_000016.9:g.3778030T= , CM000678.1:g.3778030T=	GRCh37
NC_000016.8:g.3718031T=	NCBI36
NG_009873.1:g.157092A=
NG_009873.2:g.157685A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7018A= MANE Select	ENSP00000262367.5:p.Ser2340=
ENST00000262367.9:c.7018A=	ENSP00000262367.5:p.Ser2340=
ENST00000382070.7:c.6904A=	ENSP00000371502.3:p.Ser2302=
NM_001079846.1:c.6904A=	NP_001073315.1:p.Ser2302=
NM_004380.2:c.7018A=	NP_004371.2:p.Ser2340=
XM_005255124.3:c.6973A=	XP_005255181.1:p.Ser2325=
XM_005255125.3:c.6601A=	XP_005255182.1:p.Ser2201=
XM_006720848.2:c.6757A=	XP_006720911.1:p.Ser2253=
XM_011522380.1:c.6964A=	XP_011520682.1:p.Ser2322=
XM_011522381.1:c.6265A=	XP_011520683.1:p.Ser2089=
XM_005255124.4:c.6973A=	XP_005255181.1:p.Ser2325=
XM_005255125.4:c.6601A=	XP_005255182.1:p.Ser2201=
XM_006720848.3:c.6757A=	XP_006720911.1:p.Ser2253=
XM_011522381.2:c.6265A=	XP_011520683.1:p.Ser2089=
XM_017022944.1:c.7012A=	XP_016878433.1:p.Ser2338=
NM_004380.3:c.7018A= MANE Select	NP_004371.2:p.Ser2340=