Canonical Allele Identifier: CA2202936571

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736680C= , CM000678.2:g.3736680C=	GRCh38
NC_000016.9:g.3786681C= , CM000678.1:g.3786681C=	GRCh37
NC_000016.8:g.3726682C=	NCBI36
NG_009873.1:g.148441G=
NG_009873.2:g.149034G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4530G= MANE Select	ENSP00000262367.5:p.Ala1510=
ENST00000262367.9:c.4530G=	ENSP00000262367.5:p.Ala1510=
ENST00000382070.7:c.4416G=	ENSP00000371502.3:p.Ala1472=
ENST00000570939.2:c.3165G=	ENSP00000461002.2:p.Ala1055=
ENST00000571763.5:n.320G=
ENST00000574740.1:n.351G=
ENST00000576720.1:n.3353G=
NM_001079846.1:c.4416G=	NP_001073315.1:p.Ala1472=
NM_004380.2:c.4530G=	NP_004371.2:p.Ala1510=
XM_005255124.3:c.4485G=	XP_005255181.1:p.Ala1495=
XM_005255125.3:c.4113G=	XP_005255182.1:p.Ala1371=
XM_006720848.2:c.4269G=	XP_006720911.1:p.Ala1423=
XM_011522380.1:c.4476G=	XP_011520682.1:p.Ala1492=
XM_011522381.1:c.3777G=	XP_011520683.1:p.Ala1259=
XM_005255124.4:c.4485G=	XP_005255181.1:p.Ala1495=
XM_005255125.4:c.4113G=	XP_005255182.1:p.Ala1371=
XM_006720848.3:c.4269G=	XP_006720911.1:p.Ala1423=
XM_011522381.2:c.3777G=	XP_011520683.1:p.Ala1259=
XM_017022944.1:c.4524G=	XP_016878433.1:p.Ala1508=
NM_004380.3:c.4530G= MANE Select	NP_004371.2:p.Ala1510=