Canonical Allele Identifier: CA2202940915

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740515T= , CM000678.2:g.3740515T=	GRCh38
NC_000016.9:g.3790516T= , CM000678.1:g.3790516T=	GRCh37
NC_000016.8:g.3730517T=	NCBI36
NG_009873.1:g.144606A=
NG_009873.2:g.145199A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4017A= MANE Select	ENSP00000262367.5:p.Glu1339=
ENST00000262367.9:c.4017A=	ENSP00000262367.5:p.Glu1339=
ENST00000382070.7:c.3903A=	ENSP00000371502.3:p.Glu1301=
ENST00000570939.2:c.2652A=	ENSP00000461002.2:p.Glu884=
ENST00000572569.1:n.481A=
ENST00000573517.6:c.323A=
ENST00000574740.1:n.99A=
ENST00000576720.1:n.2954A=
NM_001079846.1:c.3903A=	NP_001073315.1:p.Glu1301=
NM_004380.2:c.4017A=	NP_004371.2:p.Glu1339=
XM_005255124.3:c.3972A=	XP_005255181.1:p.Glu1324=
XM_005255125.3:c.3600A=	XP_005255182.1:p.Glu1200=
XM_006720848.2:c.4017A=	XP_006720911.1:p.Glu1339=
XM_011522380.1:c.3963A=	XP_011520682.1:p.Glu1321=
XM_011522381.1:c.3264A=	XP_011520683.1:p.Glu1088=
XM_005255124.4:c.3972A=	XP_005255181.1:p.Glu1324=
XM_005255125.4:c.3600A=	XP_005255182.1:p.Glu1200=
XM_006720848.3:c.4017A=	XP_006720911.1:p.Glu1339=
XM_011522381.2:c.3264A=	XP_011520683.1:p.Glu1088=
XM_017022944.1:c.4011A=	XP_016878433.1:p.Glu1337=
NM_004380.3:c.4017A= MANE Select	NP_004371.2:p.Glu1339=