Canonical Allele Identifier: CA2202939924

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739664A= , CM000678.2:g.3739664A=	GRCh38
NC_000016.9:g.3789665A= , CM000678.1:g.3789665A=	GRCh37
NC_000016.8:g.3729666A=	NCBI36
NG_009873.1:g.145457T=
NG_009873.2:g.146050T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4194T= MANE Select	ENSP00000262367.5:p.Ala1398=
ENST00000262367.9:c.4194T=	ENSP00000262367.5:p.Ala1398=
ENST00000382070.7:c.4080T=	ENSP00000371502.3:p.Ala1360=
ENST00000570939.2:c.2829T=	ENSP00000461002.2:p.Ala943=
ENST00000573517.6:c.500T=
ENST00000574740.1:n.215+735T=
ENST00000576720.1:n.3131T=
NM_001079846.1:c.4080T=	NP_001073315.1:p.Ala1360=
NM_004380.2:c.4194T=	NP_004371.2:p.Ala1398=
XM_005255124.3:c.4149T=	XP_005255181.1:p.Ala1383=
XM_005255125.3:c.3777T=	XP_005255182.1:p.Ala1259=
XM_006720848.2:c.4133+735T=	XP_006720911.1:n.4133+735T=
XM_011522380.1:c.4140T=	XP_011520682.1:p.Ala1380=
XM_011522381.1:c.3441T=	XP_011520683.1:p.Ala1147=
XM_005255124.4:c.4149T=	XP_005255181.1:p.Ala1383=
XM_005255125.4:c.3777T=	XP_005255182.1:p.Ala1259=
XM_006720848.3:c.4133+735T=	XP_006720911.1:n.4133+735T=
XM_011522381.2:c.3441T=	XP_011520683.1:p.Ala1147=
XM_017022944.1:c.4188T=	XP_016878433.1:p.Ala1396=
NM_004380.3:c.4194T= MANE Select	NP_004371.2:p.Ala1398=