Canonical Allele Identifier: CA2202928890

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728878G= , CM000678.2:g.3728878G=	GRCh38
NC_000016.9:g.3778879G= , CM000678.1:g.3778879G=	GRCh37
NC_000016.8:g.3718880G=	NCBI36
NG_009873.1:g.156243C=
NG_009873.2:g.156836C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6169C= MANE Select	ENSP00000262367.5:p.Gln2057=
ENST00000262367.9:c.6169C=	ENSP00000262367.5:p.Gln2057=
ENST00000382070.7:c.6055C=	ENSP00000371502.3:p.Gln2019=
NM_001079846.1:c.6055C=	NP_001073315.1:p.Gln2019=
NM_004380.2:c.6169C=	NP_004371.2:p.Gln2057=
XM_005255124.3:c.6124C=	XP_005255181.1:p.Gln2042=
XM_005255125.3:c.5752C=	XP_005255182.1:p.Gln1918=
XM_006720848.2:c.5908C=	XP_006720911.1:p.Gln1970=
XM_011522380.1:c.6115C=	XP_011520682.1:p.Gln2039=
XM_011522381.1:c.5416C=	XP_011520683.1:p.Gln1806=
XM_005255124.4:c.6124C=	XP_005255181.1:p.Gln2042=
XM_005255125.4:c.5752C=	XP_005255182.1:p.Gln1918=
XM_006720848.3:c.5908C=	XP_006720911.1:p.Gln1970=
XM_011522381.2:c.5416C=	XP_011520683.1:p.Gln1806=
XM_017022944.1:c.6163C=	XP_016878433.1:p.Gln2055=
NM_004380.3:c.6169C= MANE Select	NP_004371.2:p.Gln2057=