Canonical Allele Identifier: CA2202929909

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3731244C= , CM000678.2:g.3731244C=	GRCh38
NC_000016.9:g.3781245C= , CM000678.1:g.3781245C=	GRCh37
NC_000016.8:g.3721246C=	NCBI36
NG_009873.1:g.153877G=
NG_009873.2:g.154470G=

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.5120G= MANE Select	NP_004371.2:p.Cys1707=
ENST00000262367.10:c.5120G= MANE Select	ENSP00000262367.5:p.Cys1707=
NM_001079846.1:c.5006G=	NP_001073315.1:p.Cys1669=
NM_004380.2:c.5120G=	NP_004371.2:p.Cys1707=
ENST00000262367.9:c.5120G=	ENSP00000262367.5:p.Cys1707=
ENST00000382070.7:c.5006G=	ENSP00000371502.3:p.Cys1669=
ENST00000637492.1:c.7G=
XM_005255124.3:c.5075G=	XP_005255181.1:p.Cys1692=
XM_005255124.4:c.5075G=	XP_005255181.1:p.Cys1692=
XM_005255125.3:c.4703G=	XP_005255182.1:p.Cys1568=
XM_005255125.4:c.4703G=	XP_005255182.1:p.Cys1568=
XM_006720848.2:c.4859G=	XP_006720911.1:p.Cys1620=
XM_006720848.3:c.4859G=	XP_006720911.1:p.Cys1620=
XM_011522380.1:c.5066G=	XP_011520682.1:p.Cys1689=
XM_011522381.1:c.4367G=	XP_011520683.1:p.Cys1456=
XM_011522381.2:c.4367G=	XP_011520683.1:p.Cys1456=
XM_017022944.1:c.5114G=	XP_016878433.1:p.Cys1705=