Canonical Allele Identifier: CA2202934717

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3749631C= , CM000678.2:g.3749631C=	GRCh38
NC_000016.9:g.3799632C= , CM000678.1:g.3799632C=	GRCh37
NC_000016.8:g.3739633C=	NCBI36
NG_009873.1:g.135490G=
NG_009873.2:g.136083G=

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.3832G= MANE Select	NP_004371.2:p.Glu1278=
ENST00000262367.10:c.3832G= MANE Select	ENSP00000262367.5:p.Glu1278=
NM_001079846.1:c.3718G=	NP_001073315.1:p.Glu1240=
NM_004380.2:c.3832G=	NP_004371.2:p.Glu1278=
ENST00000262367.9:c.3832G=	ENSP00000262367.5:p.Glu1278=
ENST00000382070.7:c.3718G=	ENSP00000371502.3:p.Glu1240=
ENST00000570939.2:c.2467G=	ENSP00000461002.2:p.Glu823=
ENST00000573517.6:c.138G=
ENST00000638158.1:n.53G=
XM_005255124.3:c.3787G=	XP_005255181.1:p.Glu1263=
XM_005255124.4:c.3787G=	XP_005255181.1:p.Glu1263=
XM_005255125.3:c.3415G=	XP_005255182.1:p.Glu1139=
XM_005255125.4:c.3415G=	XP_005255182.1:p.Glu1139=
XM_006720848.2:c.3832G=	XP_006720911.1:p.Glu1278=
XM_006720848.3:c.3832G=	XP_006720911.1:p.Glu1278=
XM_011522380.1:c.3778G=	XP_011520682.1:p.Glu1260=
XM_011522381.1:c.3079G=	XP_011520683.1:p.Glu1027=
XM_011522381.2:c.3079G=	XP_011520683.1:p.Glu1027=
XM_011522382.1:c.3832G=	XP_011520684.1:p.Glu1278=
XM_011522382.3:c.3832G=	XP_011520684.1:p.Glu1278=
XM_017022944.1:c.3826G=	XP_016878433.1:p.Glu1276=