Canonical Allele Identifier: CA2202928455

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728042G= , CM000678.2:g.3728042G=	GRCh38
NC_000016.9:g.3778043G= , CM000678.1:g.3778043G=	GRCh37
NC_000016.8:g.3718044G=	NCBI36
NG_009873.1:g.157079C=
NG_009873.2:g.157672C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7005C= MANE Select	ENSP00000262367.5:p.Ile2335=
ENST00000262367.9:c.7005C=	ENSP00000262367.5:p.Ile2335=
ENST00000382070.7:c.6891C=	ENSP00000371502.3:p.Ile2297=
NM_001079846.1:c.6891C=	NP_001073315.1:p.Ile2297=
NM_004380.2:c.7005C=	NP_004371.2:p.Ile2335=
XM_005255124.3:c.6960C=	XP_005255181.1:p.Ile2320=
XM_005255125.3:c.6588C=	XP_005255182.1:p.Ile2196=
XM_006720848.2:c.6744C=	XP_006720911.1:p.Ile2248=
XM_011522380.1:c.6951C=	XP_011520682.1:p.Ile2317=
XM_011522381.1:c.6252C=	XP_011520683.1:p.Ile2084=
XM_005255124.4:c.6960C=	XP_005255181.1:p.Ile2320=
XM_005255125.4:c.6588C=	XP_005255182.1:p.Ile2196=
XM_006720848.3:c.6744C=	XP_006720911.1:p.Ile2248=
XM_011522381.2:c.6252C=	XP_011520683.1:p.Ile2084=
XM_017022944.1:c.6999C=	XP_016878433.1:p.Ile2333=
NM_004380.3:c.7005C= MANE Select	NP_004371.2:p.Ile2335=