Canonical Allele Identifier: CA2202943287

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757920G= , CM000678.2:g.3757920G=	GRCh38
NC_000016.9:g.3807921G= , CM000678.1:g.3807921G=	GRCh37
NC_000016.8:g.3747922G=	NCBI36
NG_009873.1:g.127201C=
NG_009873.2:g.127794C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.3498C= MANE Select	ENSP00000262367.5:p.Leu1166=
ENST00000262367.9:c.3498C=	ENSP00000262367.5:p.Leu1166=
ENST00000382070.7:c.3384C=	ENSP00000371502.3:p.Leu1128=
ENST00000570939.2:c.2103C=	ENSP00000461002.2:p.Leu701=
NM_001079846.1:c.3384C=	NP_001073315.1:p.Leu1128=
NM_004380.2:c.3498C=	NP_004371.2:p.Leu1166=
XM_005255124.3:c.3453C=	XP_005255181.1:p.Leu1151=
XM_005255125.3:c.3081C=	XP_005255182.1:p.Leu1027=
XM_006720848.2:c.3498C=	XP_006720911.1:p.Leu1166=
XM_011522380.1:c.3444C=	XP_011520682.1:p.Leu1148=
XM_011522381.1:c.2745C=	XP_011520683.1:p.Leu915=
XM_011522382.1:c.3498C=	XP_011520684.1:p.Leu1166=
XM_005255124.4:c.3453C=	XP_005255181.1:p.Leu1151=
XM_005255125.4:c.3081C=	XP_005255182.1:p.Leu1027=
XM_006720848.3:c.3498C=	XP_006720911.1:p.Leu1166=
XM_011522381.2:c.2745C=	XP_011520683.1:p.Leu915=
XM_011522382.3:c.3498C=	XP_011520684.1:p.Leu1166=
XM_017022944.1:c.3492C=	XP_016878433.1:p.Leu1164=
NM_004380.3:c.3498C= MANE Select	NP_004371.2:p.Leu1166=