Canonical Allele Identifier: CA2202928595

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728336G= , CM000678.2:g.3728336G=	GRCh38
NC_000016.9:g.3778337G= , CM000678.1:g.3778337G=	GRCh37
NC_000016.8:g.3718338G=	NCBI36
NG_009873.1:g.156785C=
NG_009873.2:g.157378C=

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.6711C= MANE Select	NP_004371.2:p.Pro2237=
ENST00000262367.10:c.6711C= MANE Select	ENSP00000262367.5:p.Pro2237=
NM_001079846.1:c.6597C=	NP_001073315.1:p.Pro2199=
NM_004380.2:c.6711C=	NP_004371.2:p.Pro2237=
ENST00000262367.9:c.6711C=	ENSP00000262367.5:p.Pro2237=
ENST00000382070.7:c.6597C=	ENSP00000371502.3:p.Pro2199=
XM_005255124.3:c.6666C=	XP_005255181.1:p.Pro2222=
XM_005255124.4:c.6666C=	XP_005255181.1:p.Pro2222=
XM_005255125.3:c.6294C=	XP_005255182.1:p.Pro2098=
XM_005255125.4:c.6294C=	XP_005255182.1:p.Pro2098=
XM_006720848.2:c.6450C=	XP_006720911.1:p.Pro2150=
XM_006720848.3:c.6450C=	XP_006720911.1:p.Pro2150=
XM_011522380.1:c.6657C=	XP_011520682.1:p.Pro2219=
XM_011522381.1:c.5958C=	XP_011520683.1:p.Pro1986=
XM_011522381.2:c.5958C=	XP_011520683.1:p.Pro1986=
XM_017022944.1:c.6705C=	XP_016878433.1:p.Pro2235=