Canonical Allele Identifier: CA2202958719

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778056C= , CM000678.2:g.3778056C=	GRCh38
NC_000016.9:g.3828057C= , CM000678.1:g.3828057C=	GRCh37
NC_000016.8:g.3768058C=	NCBI36
NG_009873.1:g.107065G=
NG_009873.2:g.107658G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2068G= MANE Select	ENSP00000262367.5:p.Ala690=
ENST00000262367.9:c.2068G=	ENSP00000262367.5:p.Ala690=
ENST00000382070.7:c.1954G=	ENSP00000371502.3:p.Ala652=
ENST00000570939.2:c.673G=	ENSP00000461002.2:p.Ala225=
ENST00000571826.5:c.117G=
ENST00000572134.1:c.381G=
ENST00000634839.1:n.230G=
NM_001079846.1:c.1954G=	NP_001073315.1:p.Ala652=
NM_004380.2:c.2068G=	NP_004371.2:p.Ala690=
XM_005255124.3:c.2068G=	XP_005255181.1:p.Ala690=
XM_005255125.3:c.2068G=	XP_005255182.1:p.Ala690=
XM_006720848.2:c.2068G=	XP_006720911.1:p.Ala690=
XM_011522380.1:c.2014G=	XP_011520682.1:p.Ala672=
XM_011522381.1:c.1315G=	XP_011520683.1:p.Ala439=
XM_011522382.1:c.2068G=	XP_011520684.1:p.Ala690=
XM_005255124.4:c.2068G=	XP_005255181.1:p.Ala690=
XM_005255125.4:c.2068G=	XP_005255182.1:p.Ala690=
XM_006720848.3:c.2068G=	XP_006720911.1:p.Ala690=
XM_011522381.2:c.1315G=	XP_011520683.1:p.Ala439=
XM_011522382.3:c.2068G=	XP_011520684.1:p.Ala690=
XM_017022944.1:c.2068G=	XP_016878433.1:p.Ala690=
NM_004380.3:c.2068G= MANE Select	NP_004371.2:p.Ala690=