Canonical Allele Identifier: CA2202930194

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3745274C= , CM000678.2:g.3745274C=	GRCh38
NC_000016.9:g.3795275C= , CM000678.1:g.3795275C=	GRCh37
NC_000016.8:g.3735276C=	NCBI36
NG_009873.1:g.139847G=
NG_009873.2:g.140440G=

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.3914+3G= MANE Select	NP_004371.2:n.3914+3G=
ENST00000262367.10:c.3914+3G= MANE Select	ENSP00000262367.5:n.3914+3G=
NM_001079846.1:c.3800+3G=	NP_001073315.1:n.3800+3G=
NM_004380.2:c.3914+3G=	NP_004371.2:n.3914+3G=
ENST00000262367.9:c.3914+3G=	ENSP00000262367.5:n.3914+3G=
ENST00000382070.7:c.3800+3G=	ENSP00000371502.3:n.3800+3G=
ENST00000570939.2:c.2549+3G=	ENSP00000461002.2:n.2549+3G=
ENST00000572569.1:n.378+3G=
ENST00000573517.6:c.220+3G=
XM_005255124.3:c.3869+3G=	XP_005255181.1:n.3869+3G=
XM_005255124.4:c.3869+3G=	XP_005255181.1:n.3869+3G=
XM_005255125.3:c.3497+3G=	XP_005255182.1:n.3497+3G=
XM_005255125.4:c.3497+3G=	XP_005255182.1:n.3497+3G=
XM_006720848.2:c.3914+3G=	XP_006720911.1:n.3914+3G=
XM_006720848.3:c.3914+3G=	XP_006720911.1:n.3914+3G=
XM_011522380.1:c.3860+3G=	XP_011520682.1:n.3860+3G=
XM_011522381.1:c.3161+3G=	XP_011520683.1:n.3161+3G=
XM_011522381.2:c.3161+3G=	XP_011520683.1:n.3161+3G=
XM_017022944.1:c.3908+3G=	XP_016878433.1:n.3908+3G=