Canonical Allele Identifier: CA2202916418

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729472G= , CM000678.2:g.3729472G=	GRCh38
NC_000016.9:g.3779473G= , CM000678.1:g.3779473G=	GRCh37
NC_000016.8:g.3719474G=	NCBI36
NG_009873.1:g.155649C=
NG_009873.2:g.156242C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5575C= MANE Select	ENSP00000262367.5:p.Leu1859=
ENST00000262367.9:c.5575C=	ENSP00000262367.5:p.Leu1859=
ENST00000382070.7:c.5461C=	ENSP00000371502.3:p.Leu1821=
NM_001079846.1:c.5461C=	NP_001073315.1:p.Leu1821=
NM_004380.2:c.5575C=	NP_004371.2:p.Leu1859=
XM_005255124.3:c.5530C=	XP_005255181.1:p.Leu1844=
XM_005255125.3:c.5158C=	XP_005255182.1:p.Leu1720=
XM_006720848.2:c.5314C=	XP_006720911.1:p.Leu1772=
XM_011522380.1:c.5521C=	XP_011520682.1:p.Leu1841=
XM_011522381.1:c.4822C=	XP_011520683.1:p.Leu1608=
XM_005255124.4:c.5530C=	XP_005255181.1:p.Leu1844=
XM_005255125.4:c.5158C=	XP_005255182.1:p.Leu1720=
XM_006720848.3:c.5314C=	XP_006720911.1:p.Leu1772=
XM_011522381.2:c.4822C=	XP_011520683.1:p.Leu1608=
XM_017022944.1:c.5569C=	XP_016878433.1:p.Leu1857=
NM_004380.3:c.5575C= MANE Select	NP_004371.2:p.Leu1859=