Canonical Allele Identifier: CA2202928851

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728786C= , CM000678.2:g.3728786C=	GRCh38
NC_000016.9:g.3778787C= , CM000678.1:g.3778787C=	GRCh37
NC_000016.8:g.3718788C=	NCBI36
NG_009873.1:g.156335G=
NG_009873.2:g.156928G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6261G= MANE Select	ENSP00000262367.5:p.Leu2087=
ENST00000262367.9:c.6261G=	ENSP00000262367.5:p.Leu2087=
ENST00000382070.7:c.6147G=	ENSP00000371502.3:p.Leu2049=
NM_001079846.1:c.6147G=	NP_001073315.1:p.Leu2049=
NM_004380.2:c.6261G=	NP_004371.2:p.Leu2087=
XM_005255124.3:c.6216G=	XP_005255181.1:p.Leu2072=
XM_005255125.3:c.5844G=	XP_005255182.1:p.Leu1948=
XM_006720848.2:c.6000G=	XP_006720911.1:p.Leu2000=
XM_011522380.1:c.6207G=	XP_011520682.1:p.Leu2069=
XM_011522381.1:c.5508G=	XP_011520683.1:p.Leu1836=
XM_005255124.4:c.6216G=	XP_005255181.1:p.Leu2072=
XM_005255125.4:c.5844G=	XP_005255182.1:p.Leu1948=
XM_006720848.3:c.6000G=	XP_006720911.1:p.Leu2000=
XM_011522381.2:c.5508G=	XP_011520683.1:p.Leu1836=
XM_017022944.1:c.6255G=	XP_016878433.1:p.Leu2085=
NM_004380.3:c.6261G= MANE Select	NP_004371.2:p.Leu2087=