Canonical Allele Identifier: CA2202928840

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728744G= , CM000678.2:g.3728744G=	GRCh38
NC_000016.9:g.3778745G= , CM000678.1:g.3778745G=	GRCh37
NC_000016.8:g.3718746G=	NCBI36
NG_009873.1:g.156377C=
NG_009873.2:g.156970C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6303C= MANE Select	ENSP00000262367.5:p.Ile2101=
ENST00000262367.9:c.6303C=	ENSP00000262367.5:p.Ile2101=
ENST00000382070.7:c.6189C=	ENSP00000371502.3:p.Ile2063=
NM_001079846.1:c.6189C=	NP_001073315.1:p.Ile2063=
NM_004380.2:c.6303C=	NP_004371.2:p.Ile2101=
XM_005255124.3:c.6258C=	XP_005255181.1:p.Ile2086=
XM_005255125.3:c.5886C=	XP_005255182.1:p.Ile1962=
XM_006720848.2:c.6042C=	XP_006720911.1:p.Ile2014=
XM_011522380.1:c.6249C=	XP_011520682.1:p.Ile2083=
XM_011522381.1:c.5550C=	XP_011520683.1:p.Ile1850=
XM_005255124.4:c.6258C=	XP_005255181.1:p.Ile2086=
XM_005255125.4:c.5886C=	XP_005255182.1:p.Ile1962=
XM_006720848.3:c.6042C=	XP_006720911.1:p.Ile2014=
XM_011522381.2:c.5550C=	XP_011520683.1:p.Ile1850=
XM_017022944.1:c.6297C=	XP_016878433.1:p.Ile2099=
NM_004380.3:c.6303C= MANE Select	NP_004371.2:p.Ile2101=