Canonical Allele Identifier: CA2202936675

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736749G= , CM000678.2:g.3736749G=	GRCh38
NC_000016.9:g.3786750G= , CM000678.1:g.3786750G=	GRCh37
NC_000016.8:g.3726751G=	NCBI36
NG_009873.1:g.148372C=
NG_009873.2:g.148965C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4461C= MANE Select	ENSP00000262367.5:p.His1487=
ENST00000262367.9:c.4461C=	ENSP00000262367.5:p.His1487=
ENST00000382070.7:c.4347C=	ENSP00000371502.3:p.His1449=
ENST00000570939.2:c.3096C=	ENSP00000461002.2:p.His1032=
ENST00000571763.5:n.251C=
ENST00000574740.1:n.282C=
ENST00000576720.1:n.3284C=
NM_001079846.1:c.4347C=	NP_001073315.1:p.His1449=
NM_004380.2:c.4461C=	NP_004371.2:p.His1487=
XM_005255124.3:c.4416C=	XP_005255181.1:p.His1472=
XM_005255125.3:c.4044C=	XP_005255182.1:p.His1348=
XM_006720848.2:c.4200C=	XP_006720911.1:p.His1400=
XM_011522380.1:c.4407C=	XP_011520682.1:p.His1469=
XM_011522381.1:c.3708C=	XP_011520683.1:p.His1236=
XM_005255124.4:c.4416C=	XP_005255181.1:p.His1472=
XM_005255125.4:c.4044C=	XP_005255182.1:p.His1348=
XM_006720848.3:c.4200C=	XP_006720911.1:p.His1400=
XM_011522381.2:c.3708C=	XP_011520683.1:p.His1236=
XM_017022944.1:c.4455C=	XP_016878433.1:p.His1485=
NM_004380.3:c.4461C= MANE Select	NP_004371.2:p.His1487=