Canonical Allele Identifier: CA2202916569

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729855T= , CM000678.2:g.3729855T=	GRCh38
NC_000016.9:g.3779856T= , CM000678.1:g.3779856T=	GRCh37
NC_000016.8:g.3719857T=	NCBI36
NG_009873.1:g.155266A=
NG_009873.2:g.155859A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5192A= MANE Select	ENSP00000262367.5:p.Asn1731=
ENST00000262367.9:c.5192A=	ENSP00000262367.5:p.Asn1731=
ENST00000382070.7:c.5078A=	ENSP00000371502.3:p.Asn1693=
NM_001079846.1:c.5078A=	NP_001073315.1:p.Asn1693=
NM_004380.2:c.5192A=	NP_004371.2:p.Asn1731=
XM_005255124.3:c.5147A=	XP_005255181.1:p.Asn1716=
XM_005255125.3:c.4775A=	XP_005255182.1:p.Asn1592=
XM_006720848.2:c.4931A=	XP_006720911.1:p.Asn1644=
XM_011522380.1:c.5138A=	XP_011520682.1:p.Asn1713=
XM_011522381.1:c.4439A=	XP_011520683.1:p.Asn1480=
XM_005255124.4:c.5147A=	XP_005255181.1:p.Asn1716=
XM_005255125.4:c.4775A=	XP_005255182.1:p.Asn1592=
XM_006720848.3:c.4931A=	XP_006720911.1:p.Asn1644=
XM_011522381.2:c.4439A=	XP_011520683.1:p.Asn1480=
XM_017022944.1:c.5186A=	XP_016878433.1:p.Asn1729=
NM_004380.3:c.5192A= MANE Select	NP_004371.2:p.Asn1731=