Canonical Allele Identifier: CA2202950976

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770888G= , CM000678.2:g.3770888G=	GRCh38
NC_000016.9:g.3820889G= , CM000678.1:g.3820889G=	GRCh37
NC_000016.8:g.3760890G=	NCBI36
NG_009873.1:g.114233C=
NG_009873.2:g.114826C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2562C= MANE Select	ENSP00000262367.5:p.His854=
ENST00000262367.9:c.2562C=	ENSP00000262367.5:p.His854=
ENST00000382070.7:c.2448C=	ENSP00000371502.3:p.His816=
ENST00000570939.2:c.1167C=	ENSP00000461002.2:p.His389=
NM_001079846.1:c.2448C=	NP_001073315.1:p.His816=
NM_004380.2:c.2562C=	NP_004371.2:p.His854=
XM_005255124.3:c.2517C=	XP_005255181.1:p.His839=
XM_005255125.3:c.2464-1535C=	XP_005255182.1:n.2464-1535C=
XM_006720848.2:c.2562C=	XP_006720911.1:p.His854=
XM_011522380.1:c.2508C=	XP_011520682.1:p.His836=
XM_011522381.1:c.1809C=	XP_011520683.1:p.His603=
XM_011522382.1:c.2562C=	XP_011520684.1:p.His854=
XM_005255124.4:c.2517C=	XP_005255181.1:p.His839=
XM_005255125.4:c.2464-1535C=	XP_005255182.1:n.2464-1535C=
XM_006720848.3:c.2562C=	XP_006720911.1:p.His854=
XM_011522381.2:c.1809C=	XP_011520683.1:p.His603=
XM_011522382.3:c.2562C=	XP_011520684.1:p.His854=
XM_017022944.1:c.2556C=	XP_016878433.1:p.His852=
NM_004380.3:c.2562C= MANE Select	NP_004371.2:p.His854=