Canonical Allele Identifier: CA2202936711

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736788A= , CM000678.2:g.3736788A=	GRCh38
NC_000016.9:g.3786789A= , CM000678.1:g.3786789A=	GRCh37
NC_000016.8:g.3726790A=	NCBI36
NG_009873.1:g.148333T=
NG_009873.2:g.148926T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4422T= MANE Select	ENSP00000262367.5:p.Cys1474=
ENST00000262367.9:c.4422T=	ENSP00000262367.5:p.Cys1474=
ENST00000382070.7:c.4308T=	ENSP00000371502.3:p.Cys1436=
ENST00000570939.2:c.3057T=	ENSP00000461002.2:p.Cys1019=
ENST00000571763.5:n.212T=
ENST00000574740.1:n.243T=
ENST00000576720.1:n.3245T=
NM_001079846.1:c.4308T=	NP_001073315.1:p.Cys1436=
NM_004380.2:c.4422T=	NP_004371.2:p.Cys1474=
XM_005255124.3:c.4377T=	XP_005255181.1:p.Cys1459=
XM_005255125.3:c.4005T=	XP_005255182.1:p.Cys1335=
XM_006720848.2:c.4161T=	XP_006720911.1:p.Cys1387=
XM_011522380.1:c.4368T=	XP_011520682.1:p.Cys1456=
XM_011522381.1:c.3669T=	XP_011520683.1:p.Cys1223=
XM_005255124.4:c.4377T=	XP_005255181.1:p.Cys1459=
XM_005255125.4:c.4005T=	XP_005255182.1:p.Cys1335=
XM_006720848.3:c.4161T=	XP_006720911.1:p.Cys1387=
XM_011522381.2:c.3669T=	XP_011520683.1:p.Cys1223=
XM_017022944.1:c.4416T=	XP_016878433.1:p.Cys1472=
NM_004380.3:c.4422T= MANE Select	NP_004371.2:p.Cys1474=