Canonical Allele Identifier: CA2202928339

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727789G= , CM000678.2:g.3727789G=	GRCh38
NC_000016.9:g.3777790G= , CM000678.1:g.3777790G=	GRCh37
NC_000016.8:g.3717791G=	NCBI36
NG_009873.1:g.157332C=
NG_009873.2:g.157925C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7258C= MANE Select	ENSP00000262367.5:p.Leu2420=
ENST00000262367.9:c.7258C=	ENSP00000262367.5:p.Leu2420=
ENST00000382070.7:c.7144C=	ENSP00000371502.3:p.Leu2382=
NM_001079846.1:c.7144C=	NP_001073315.1:p.Leu2382=
NM_004380.2:c.7258C=	NP_004371.2:p.Leu2420=
XM_005255124.3:c.7213C=	XP_005255181.1:p.Leu2405=
XM_005255125.3:c.6841C=	XP_005255182.1:p.Leu2281=
XM_006720848.2:c.6997C=	XP_006720911.1:p.Leu2333=
XM_011522380.1:c.7204C=	XP_011520682.1:p.Leu2402=
XM_011522381.1:c.6505C=	XP_011520683.1:p.Leu2169=
XM_005255124.4:c.7213C=	XP_005255181.1:p.Leu2405=
XM_005255125.4:c.6841C=	XP_005255182.1:p.Leu2281=
XM_006720848.3:c.6997C=	XP_006720911.1:p.Leu2333=
XM_011522381.2:c.6505C=	XP_011520683.1:p.Leu2169=
XM_017022944.1:c.7252C=	XP_016878433.1:p.Leu2418=
NM_004380.3:c.7258C= MANE Select	NP_004371.2:p.Leu2420=