Canonical Allele Identifier: CA2202916120

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728928A= , CM000678.2:g.3728928A=	GRCh38
NC_000016.9:g.3778929A= , CM000678.1:g.3778929A=	GRCh37
NC_000016.8:g.3718930A=	NCBI36
NG_009873.1:g.156193T=
NG_009873.2:g.156786T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6119T= MANE Select	ENSP00000262367.5:p.Ile2040=
ENST00000262367.9:c.6119T=	ENSP00000262367.5:p.Ile2040=
ENST00000382070.7:c.6005T=	ENSP00000371502.3:p.Ile2002=
NM_001079846.1:c.6005T=	NP_001073315.1:p.Ile2002=
NM_004380.2:c.6119T=	NP_004371.2:p.Ile2040=
XM_005255124.3:c.6074T=	XP_005255181.1:p.Ile2025=
XM_005255125.3:c.5702T=	XP_005255182.1:p.Ile1901=
XM_006720848.2:c.5858T=	XP_006720911.1:p.Ile1953=
XM_011522380.1:c.6065T=	XP_011520682.1:p.Ile2022=
XM_011522381.1:c.5366T=	XP_011520683.1:p.Ile1789=
XM_005255124.4:c.6074T=	XP_005255181.1:p.Ile2025=
XM_005255125.4:c.5702T=	XP_005255182.1:p.Ile1901=
XM_006720848.3:c.5858T=	XP_006720911.1:p.Ile1953=
XM_011522381.2:c.5366T=	XP_011520683.1:p.Ile1789=
XM_017022944.1:c.6113T=	XP_016878433.1:p.Ile2038=
NM_004380.3:c.6119T= MANE Select	NP_004371.2:p.Ile2040=