Canonical Allele Identifier: CA2202916513

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729746T= , CM000678.2:g.3729746T=	GRCh38
NC_000016.9:g.3779747T= , CM000678.1:g.3779747T=	GRCh37
NC_000016.8:g.3719748T=	NCBI36
NG_009873.1:g.155375A=
NG_009873.2:g.155968A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5301A= MANE Select	ENSP00000262367.5:p.Ser1767=
ENST00000262367.9:c.5301A=	ENSP00000262367.5:p.Ser1767=
ENST00000382070.7:c.5187A=	ENSP00000371502.3:p.Ser1729=
NM_001079846.1:c.5187A=	NP_001073315.1:p.Ser1729=
NM_004380.2:c.5301A=	NP_004371.2:p.Ser1767=
XM_005255124.3:c.5256A=	XP_005255181.1:p.Ser1752=
XM_005255125.3:c.4884A=	XP_005255182.1:p.Ser1628=
XM_006720848.2:c.5040A=	XP_006720911.1:p.Ser1680=
XM_011522380.1:c.5247A=	XP_011520682.1:p.Ser1749=
XM_011522381.1:c.4548A=	XP_011520683.1:p.Ser1516=
XM_005255124.4:c.5256A=	XP_005255181.1:p.Ser1752=
XM_005255125.4:c.4884A=	XP_005255182.1:p.Ser1628=
XM_006720848.3:c.5040A=	XP_006720911.1:p.Ser1680=
XM_011522381.2:c.4548A=	XP_011520683.1:p.Ser1516=
XM_017022944.1:c.5295A=	XP_016878433.1:p.Ser1765=
NM_004380.3:c.5301A= MANE Select	NP_004371.2:p.Ser1767=