Canonical Allele Identifier: CA2202928453

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728037G= , CM000678.2:g.3728037G=	GRCh38
NC_000016.9:g.3778038G= , CM000678.1:g.3778038G=	GRCh37
NC_000016.8:g.3718039G=	NCBI36
NG_009873.1:g.157084C=
NG_009873.2:g.157677C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7010C= MANE Select	ENSP00000262367.5:p.Thr2337=
ENST00000262367.9:c.7010C=	ENSP00000262367.5:p.Thr2337=
ENST00000382070.7:c.6896C=	ENSP00000371502.3:p.Thr2299=
NM_001079846.1:c.6896C=	NP_001073315.1:p.Thr2299=
NM_004380.2:c.7010C=	NP_004371.2:p.Thr2337=
XM_005255124.3:c.6965C=	XP_005255181.1:p.Thr2322=
XM_005255125.3:c.6593C=	XP_005255182.1:p.Thr2198=
XM_006720848.2:c.6749C=	XP_006720911.1:p.Thr2250=
XM_011522380.1:c.6956C=	XP_011520682.1:p.Thr2319=
XM_011522381.1:c.6257C=	XP_011520683.1:p.Thr2086=
XM_005255124.4:c.6965C=	XP_005255181.1:p.Thr2322=
XM_005255125.4:c.6593C=	XP_005255182.1:p.Thr2198=
XM_006720848.3:c.6749C=	XP_006720911.1:p.Thr2250=
XM_011522381.2:c.6257C=	XP_011520683.1:p.Thr2086=
XM_017022944.1:c.7004C=	XP_016878433.1:p.Thr2335=
NM_004380.3:c.7010C= MANE Select	NP_004371.2:p.Thr2337=