Canonical Allele Identifier: CA2202928379

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727871G= , CM000678.2:g.3727871G=	GRCh38
NC_000016.9:g.3777872G= , CM000678.1:g.3777872G=	GRCh37
NC_000016.8:g.3717873G=	NCBI36
NG_009873.1:g.157250C=
NG_009873.2:g.157843C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7176C= MANE Select	ENSP00000262367.5:p.Ala2392=
ENST00000262367.9:c.7176C=	ENSP00000262367.5:p.Ala2392=
ENST00000382070.7:c.7062C=	ENSP00000371502.3:p.Ala2354=
NM_001079846.1:c.7062C=	NP_001073315.1:p.Ala2354=
NM_004380.2:c.7176C=	NP_004371.2:p.Ala2392=
XM_005255124.3:c.7131C=	XP_005255181.1:p.Ala2377=
XM_005255125.3:c.6759C=	XP_005255182.1:p.Ala2253=
XM_006720848.2:c.6915C=	XP_006720911.1:p.Ala2305=
XM_011522380.1:c.7122C=	XP_011520682.1:p.Ala2374=
XM_011522381.1:c.6423C=	XP_011520683.1:p.Ala2141=
XM_005255124.4:c.7131C=	XP_005255181.1:p.Ala2377=
XM_005255125.4:c.6759C=	XP_005255182.1:p.Ala2253=
XM_006720848.3:c.6915C=	XP_006720911.1:p.Ala2305=
XM_011522381.2:c.6423C=	XP_011520683.1:p.Ala2141=
XM_017022944.1:c.7170C=	XP_016878433.1:p.Ala2390=
NM_004380.3:c.7176C= MANE Select	NP_004371.2:p.Ala2392=