Canonical Allele Identifier: CA493394067

Gene: CREBBP

Linked Data

• dbSNP Id: rs1398006284
• MyVariant Identifiers: chr16:g.3779495G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729494G>T , CM000678.2:g.3729494G>T	GRCh38
NC_000016.9:g.3779495G>T , CM000678.1:g.3779495G>T	GRCh37
NC_000016.8:g.3719496G>T	NCBI36
NG_009873.1:g.155627C>A
NG_009873.2:g.156220C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5553C>A MANE Select	ENSP00000262367.5:p.Arg1851=
ENST00000262367.9:c.5553C>A	ENSP00000262367.5:p.Arg1851=
ENST00000382070.7:c.5439C>A	ENSP00000371502.3:p.Arg1813=
NM_001079846.1:c.5439C>A	NP_001073315.1:p.Arg1813=
NM_004380.2:c.5553C>A	NP_004371.2:p.Arg1851=
XM_005255124.3:c.5508C>A	XP_005255181.1:p.Arg1836=
XM_005255125.3:c.5136C>A	XP_005255182.1:p.Arg1712=
XM_006720848.2:c.5292C>A	XP_006720911.1:p.Arg1764=
XM_011522380.1:c.5499C>A	XP_011520682.1:p.Arg1833=
XM_011522381.1:c.4800C>A	XP_011520683.1:p.Arg1600=
XM_005255124.4:c.5508C>A	XP_005255181.1:p.Arg1836=
XM_005255125.4:c.5136C>A	XP_005255182.1:p.Arg1712=
XM_006720848.3:c.5292C>A	XP_006720911.1:p.Arg1764=
XM_011522381.2:c.4800C>A	XP_011520683.1:p.Arg1600=
XM_017022944.1:c.5547C>A	XP_016878433.1:p.Arg1849=
NM_004380.3:c.5553C>A MANE Select	NP_004371.2:p.Arg1851=