Canonical Allele Identifier: CA2202939951

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739686T= , CM000678.2:g.3739686T=	GRCh38
NC_000016.9:g.3789687T= , CM000678.1:g.3789687T=	GRCh37
NC_000016.8:g.3729688T=	NCBI36
NG_009873.1:g.145435A=
NG_009873.2:g.146028A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4172A= MANE Select	ENSP00000262367.5:p.Tyr1391=
ENST00000262367.9:c.4172A=	ENSP00000262367.5:p.Tyr1391=
ENST00000382070.7:c.4058A=	ENSP00000371502.3:p.Tyr1353=
ENST00000570939.2:c.2807A=	ENSP00000461002.2:p.Tyr936=
ENST00000573517.6:c.478A=
ENST00000574740.1:n.215+713A=
ENST00000576720.1:n.3109A=
NM_001079846.1:c.4058A=	NP_001073315.1:p.Tyr1353=
NM_004380.2:c.4172A=	NP_004371.2:p.Tyr1391=
XM_005255124.3:c.4127A=	XP_005255181.1:p.Tyr1376=
XM_005255125.3:c.3755A=	XP_005255182.1:p.Tyr1252=
XM_006720848.2:c.4133+713A=	XP_006720911.1:n.4133+713A=
XM_011522380.1:c.4118A=	XP_011520682.1:p.Tyr1373=
XM_011522381.1:c.3419A=	XP_011520683.1:p.Tyr1140=
XM_005255124.4:c.4127A=	XP_005255181.1:p.Tyr1376=
XM_005255125.4:c.3755A=	XP_005255182.1:p.Tyr1252=
XM_006720848.3:c.4133+713A=	XP_006720911.1:n.4133+713A=
XM_011522381.2:c.3419A=	XP_011520683.1:p.Tyr1140=
XM_017022944.1:c.4166A=	XP_016878433.1:p.Tyr1389=
NM_004380.3:c.4172A= MANE Select	NP_004371.2:p.Tyr1391=