Canonical Allele Identifier: CA2202938904

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3738595A= , CM000678.2:g.3738595A=	GRCh38
NC_000016.9:g.3788596A= , CM000678.1:g.3788596A=	GRCh37
NC_000016.8:g.3728597A=	NCBI36
NG_009873.1:g.146526T=
NG_009873.2:g.147119T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4358T= MANE Select	ENSP00000262367.5:p.Ile1453=
ENST00000262367.9:c.4358T=	ENSP00000262367.5:p.Ile1453=
ENST00000382070.7:c.4244T=	ENSP00000371502.3:p.Ile1415=
ENST00000570939.2:c.2993T=	ENSP00000461002.2:p.Ile998=
ENST00000574740.1:n.216-1780T=
ENST00000576720.1:n.3217+983T=
NM_001079846.1:c.4244T=	NP_001073315.1:p.Ile1415=
NM_004380.2:c.4358T=	NP_004371.2:p.Ile1453=
XM_005255124.3:c.4313T=	XP_005255181.1:p.Ile1438=
XM_005255125.3:c.3941T=	XP_005255182.1:p.Ile1314=
XM_006720848.2:c.4134-1780T=	XP_006720911.1:n.4134-1780T=
XM_011522380.1:c.4304T=	XP_011520682.1:p.Ile1435=
XM_011522381.1:c.3605T=	XP_011520683.1:p.Ile1202=
XM_005255124.4:c.4313T=	XP_005255181.1:p.Ile1438=
XM_005255125.4:c.3941T=	XP_005255182.1:p.Ile1314=
XM_006720848.3:c.4134-1780T=	XP_006720911.1:n.4134-1780T=
XM_011522381.2:c.3605T=	XP_011520683.1:p.Ile1202=
XM_017022944.1:c.4352T=	XP_016878433.1:p.Ile1451=
NM_004380.3:c.4358T= MANE Select	NP_004371.2:p.Ile1453=