Canonical Allele Identifier: CA2202936727

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736807G= , CM000678.2:g.3736807G=	GRCh38
NC_000016.9:g.3786808G= , CM000678.1:g.3786808G=	GRCh37
NC_000016.8:g.3726809G=	NCBI36
NG_009873.1:g.148314C=
NG_009873.2:g.148907C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4403C= MANE Select	ENSP00000262367.5:p.Thr1468=
ENST00000262367.9:c.4403C=	ENSP00000262367.5:p.Thr1468=
ENST00000382070.7:c.4289C=	ENSP00000371502.3:p.Thr1430=
ENST00000570939.2:c.3038C=	ENSP00000461002.2:p.Thr1013=
ENST00000571763.5:n.193C=
ENST00000574740.1:n.224C=
ENST00000576720.1:n.3226C=
NM_001079846.1:c.4289C=	NP_001073315.1:p.Thr1430=
NM_004380.2:c.4403C=	NP_004371.2:p.Thr1468=
XM_005255124.3:c.4358C=	XP_005255181.1:p.Thr1453=
XM_005255125.3:c.3986C=	XP_005255182.1:p.Thr1329=
XM_006720848.2:c.4142C=	XP_006720911.1:p.Thr1381=
XM_011522380.1:c.4349C=	XP_011520682.1:p.Thr1450=
XM_011522381.1:c.3650C=	XP_011520683.1:p.Thr1217=
XM_005255124.4:c.4358C=	XP_005255181.1:p.Thr1453=
XM_005255125.4:c.3986C=	XP_005255182.1:p.Thr1329=
XM_006720848.3:c.4142C=	XP_006720911.1:p.Thr1381=
XM_011522381.2:c.3650C=	XP_011520683.1:p.Thr1217=
XM_017022944.1:c.4397C=	XP_016878433.1:p.Thr1466=
NM_004380.3:c.4403C= MANE Select	NP_004371.2:p.Thr1468=