Canonical Allele Identifier: CA2202942636

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757373C= , CM000678.2:g.3757373C=	GRCh38
NC_000016.9:g.3807374C= , CM000678.1:g.3807374C=	GRCh37
NC_000016.8:g.3747375C=	NCBI36
NG_009873.1:g.127748G=
NG_009873.2:g.128341G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.3613G= MANE Select	ENSP00000262367.5:p.Glu1205=
ENST00000262367.9:c.3613G=	ENSP00000262367.5:p.Glu1205=
ENST00000382070.7:c.3499G=	ENSP00000371502.3:p.Glu1167=
ENST00000570939.2:c.2218G=	ENSP00000461002.2:p.Glu740=
NM_001079846.1:c.3499G=	NP_001073315.1:p.Glu1167=
NM_004380.2:c.3613G=	NP_004371.2:p.Glu1205=
XM_005255124.3:c.3568G=	XP_005255181.1:p.Glu1190=
XM_005255125.3:c.3196G=	XP_005255182.1:p.Glu1066=
XM_006720848.2:c.3613G=	XP_006720911.1:p.Glu1205=
XM_011522380.1:c.3559G=	XP_011520682.1:p.Glu1187=
XM_011522381.1:c.2860G=	XP_011520683.1:p.Glu954=
XM_011522382.1:c.3613G=	XP_011520684.1:p.Glu1205=
XM_005255124.4:c.3568G=	XP_005255181.1:p.Glu1190=
XM_005255125.4:c.3196G=	XP_005255182.1:p.Glu1066=
XM_006720848.3:c.3613G=	XP_006720911.1:p.Glu1205=
XM_011522381.2:c.2860G=	XP_011520683.1:p.Glu954=
XM_011522382.3:c.3613G=	XP_011520684.1:p.Glu1205=
XM_017022944.1:c.3607G=	XP_016878433.1:p.Glu1203=
NM_004380.3:c.3613G= MANE Select	NP_004371.2:p.Glu1205=