Canonical Allele Identifier: CA2202936717

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736791G= , CM000678.2:g.3736791G=	GRCh38
NC_000016.9:g.3786792G= , CM000678.1:g.3786792G=	GRCh37
NC_000016.8:g.3726793G=	NCBI36
NG_009873.1:g.148330C=
NG_009873.2:g.148923C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4419C= MANE Select	ENSP00000262367.5:p.Ala1473=
ENST00000262367.9:c.4419C=	ENSP00000262367.5:p.Ala1473=
ENST00000382070.7:c.4305C=	ENSP00000371502.3:p.Ala1435=
ENST00000570939.2:c.3054C=	ENSP00000461002.2:p.Ala1018=
ENST00000571763.5:n.209C=
ENST00000574740.1:n.240C=
ENST00000576720.1:n.3242C=
NM_001079846.1:c.4305C=	NP_001073315.1:p.Ala1435=
NM_004380.2:c.4419C=	NP_004371.2:p.Ala1473=
XM_005255124.3:c.4374C=	XP_005255181.1:p.Ala1458=
XM_005255125.3:c.4002C=	XP_005255182.1:p.Ala1334=
XM_006720848.2:c.4158C=	XP_006720911.1:p.Ala1386=
XM_011522380.1:c.4365C=	XP_011520682.1:p.Ala1455=
XM_011522381.1:c.3666C=	XP_011520683.1:p.Ala1222=
XM_005255124.4:c.4374C=	XP_005255181.1:p.Ala1458=
XM_005255125.4:c.4002C=	XP_005255182.1:p.Ala1334=
XM_006720848.3:c.4158C=	XP_006720911.1:p.Ala1386=
XM_011522381.2:c.3666C=	XP_011520683.1:p.Ala1222=
XM_017022944.1:c.4413C=	XP_016878433.1:p.Ala1471=
NM_004380.3:c.4419C= MANE Select	NP_004371.2:p.Ala1473=