Canonical Allele Identifier: CA2202936547

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736651T= , CM000678.2:g.3736651T=	GRCh38
NC_000016.9:g.3786652T= , CM000678.1:g.3786652T=	GRCh37
NC_000016.8:g.3726653T=	NCBI36
NG_009873.1:g.148470A=
NG_009873.2:g.149063A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4559A= MANE Select	ENSP00000262367.5:p.Lys1520=
ENST00000262367.9:c.4559A=	ENSP00000262367.5:p.Lys1520=
ENST00000382070.7:c.4445A=	ENSP00000371502.3:p.Lys1482=
ENST00000570939.2:c.3194A=	ENSP00000461002.2:p.Lys1065=
ENST00000571763.5:n.349A=
ENST00000574740.1:n.380A=
ENST00000576720.1:n.3382A=
NM_001079846.1:c.4445A=	NP_001073315.1:p.Lys1482=
NM_004380.2:c.4559A=	NP_004371.2:p.Lys1520=
XM_005255124.3:c.4514A=	XP_005255181.1:p.Lys1505=
XM_005255125.3:c.4142A=	XP_005255182.1:p.Lys1381=
XM_006720848.2:c.4298A=	XP_006720911.1:p.Lys1433=
XM_011522380.1:c.4505A=	XP_011520682.1:p.Lys1502=
XM_011522381.1:c.3806A=	XP_011520683.1:p.Lys1269=
XM_005255124.4:c.4514A=	XP_005255181.1:p.Lys1505=
XM_005255125.4:c.4142A=	XP_005255182.1:p.Lys1381=
XM_006720848.3:c.4298A=	XP_006720911.1:p.Lys1433=
XM_011522381.2:c.3806A=	XP_011520683.1:p.Lys1269=
XM_017022944.1:c.4553A=	XP_016878433.1:p.Lys1518=
NM_004380.3:c.4559A= MANE Select	NP_004371.2:p.Lys1520=