Canonical Allele Identifier: CA2202928839

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728743T= , CM000678.2:g.3728743T=	GRCh38
NC_000016.9:g.3778744T= , CM000678.1:g.3778744T=	GRCh37
NC_000016.8:g.3718745T=	NCBI36
NG_009873.1:g.156378A=
NG_009873.2:g.156971A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6304A= MANE Select	ENSP00000262367.5:p.Lys2102=
ENST00000262367.9:c.6304A=	ENSP00000262367.5:p.Lys2102=
ENST00000382070.7:c.6190A=	ENSP00000371502.3:p.Lys2064=
NM_001079846.1:c.6190A=	NP_001073315.1:p.Lys2064=
NM_004380.2:c.6304A=	NP_004371.2:p.Lys2102=
XM_005255124.3:c.6259A=	XP_005255181.1:p.Lys2087=
XM_005255125.3:c.5887A=	XP_005255182.1:p.Lys1963=
XM_006720848.2:c.6043A=	XP_006720911.1:p.Lys2015=
XM_011522380.1:c.6250A=	XP_011520682.1:p.Lys2084=
XM_011522381.1:c.5551A=	XP_011520683.1:p.Lys1851=
XM_005255124.4:c.6259A=	XP_005255181.1:p.Lys2087=
XM_005255125.4:c.5887A=	XP_005255182.1:p.Lys1963=
XM_006720848.3:c.6043A=	XP_006720911.1:p.Lys2015=
XM_011522381.2:c.5551A=	XP_011520683.1:p.Lys1851=
XM_017022944.1:c.6298A=	XP_016878433.1:p.Lys2100=
NM_004380.3:c.6304A= MANE Select	NP_004371.2:p.Lys2102=