Canonical Allele Identifier: CA2202936567

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736677A= , CM000678.2:g.3736677A=	GRCh38
NC_000016.9:g.3786678A= , CM000678.1:g.3786678A=	GRCh37
NC_000016.8:g.3726679A=	NCBI36
NG_009873.1:g.148444T=
NG_009873.2:g.149037T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4533T= MANE Select	ENSP00000262367.5:p.Phe1511=
ENST00000262367.9:c.4533T=	ENSP00000262367.5:p.Phe1511=
ENST00000382070.7:c.4419T=	ENSP00000371502.3:p.Phe1473=
ENST00000570939.2:c.3168T=	ENSP00000461002.2:p.Phe1056=
ENST00000571763.5:n.323T=
ENST00000574740.1:n.354T=
ENST00000576720.1:n.3356T=
NM_001079846.1:c.4419T=	NP_001073315.1:p.Phe1473=
NM_004380.2:c.4533T=	NP_004371.2:p.Phe1511=
XM_005255124.3:c.4488T=	XP_005255181.1:p.Phe1496=
XM_005255125.3:c.4116T=	XP_005255182.1:p.Phe1372=
XM_006720848.2:c.4272T=	XP_006720911.1:p.Phe1424=
XM_011522380.1:c.4479T=	XP_011520682.1:p.Phe1493=
XM_011522381.1:c.3780T=	XP_011520683.1:p.Phe1260=
XM_005255124.4:c.4488T=	XP_005255181.1:p.Phe1496=
XM_005255125.4:c.4116T=	XP_005255182.1:p.Phe1372=
XM_006720848.3:c.4272T=	XP_006720911.1:p.Phe1424=
XM_011522381.2:c.3780T=	XP_011520683.1:p.Phe1260=
XM_017022944.1:c.4527T=	XP_016878433.1:p.Phe1509=
NM_004380.3:c.4533T= MANE Select	NP_004371.2:p.Phe1511=