Canonical Allele Identifier: CA2202971812

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3810603C= , CM000678.2:g.3810603C=	GRCh38
NC_000016.9:g.3860604C= , CM000678.1:g.3860604C=	GRCh37
NC_000016.8:g.3800605C=	NCBI36
NG_009873.1:g.74518G=
NG_009873.2:g.75111G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.975G= MANE Select	ENSP00000262367.5:p.Met325=
ENST00000262367.9:c.975G=	ENSP00000262367.5:p.Met325=
ENST00000382070.7:c.975G=	ENSP00000371502.3:p.Met325=
NM_001079846.1:c.975G=	NP_001073315.1:p.Met325=
NM_004380.2:c.975G=	NP_004371.2:p.Met325=
XM_005255124.3:c.975G=	XP_005255181.1:p.Met325=
XM_005255125.3:c.975G=	XP_005255182.1:p.Met325=
XM_006720848.2:c.975G=	XP_006720911.1:p.Met325=
XM_011522380.1:c.921G=	XP_011520682.1:p.Met307=
XM_011522381.1:c.222G=	XP_011520683.1:p.Met74=
XM_011522382.1:c.975G=	XP_011520684.1:p.Met325=
XM_005255124.4:c.975G=	XP_005255181.1:p.Met325=
XM_005255125.4:c.975G=	XP_005255182.1:p.Met325=
XM_006720848.3:c.975G=	XP_006720911.1:p.Met325=
XM_011522381.2:c.222G=	XP_011520683.1:p.Met74=
XM_011522382.3:c.975G=	XP_011520684.1:p.Met325=
XM_017022944.1:c.975G=	XP_016878433.1:p.Met325=
NM_004380.3:c.975G= MANE Select	NP_004371.2:p.Met325=