Canonical Allele Identifier: CA493393662

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305062
• MyVariant Identifiers: chr16:g.3778781A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728780A>T , CM000678.2:g.3728780A>T	GRCh38
NC_000016.9:g.3778781A>T , CM000678.1:g.3778781A>T	GRCh37
NC_000016.8:g.3718782A>T	NCBI36
NG_009873.1:g.156341T>A
NG_009873.2:g.156934T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6267T>A MANE Select	ENSP00000262367.5:p.Ile2089=
ENST00000262367.9:c.6267T>A	ENSP00000262367.5:p.Ile2089=
ENST00000382070.7:c.6153T>A	ENSP00000371502.3:p.Ile2051=
NM_001079846.1:c.6153T>A	NP_001073315.1:p.Ile2051=
NM_004380.2:c.6267T>A	NP_004371.2:p.Ile2089=
XM_005255124.3:c.6222T>A	XP_005255181.1:p.Ile2074=
XM_005255125.3:c.5850T>A	XP_005255182.1:p.Ile1950=
XM_006720848.2:c.6006T>A	XP_006720911.1:p.Ile2002=
XM_011522380.1:c.6213T>A	XP_011520682.1:p.Ile2071=
XM_011522381.1:c.5514T>A	XP_011520683.1:p.Ile1838=
XM_005255124.4:c.6222T>A	XP_005255181.1:p.Ile2074=
XM_005255125.4:c.5850T>A	XP_005255182.1:p.Ile1950=
XM_006720848.3:c.6006T>A	XP_006720911.1:p.Ile2002=
XM_011522381.2:c.5514T>A	XP_011520683.1:p.Ile1838=
XM_017022944.1:c.6261T>A	XP_016878433.1:p.Ile2087=
NM_004380.3:c.6267T>A MANE Select	NP_004371.2:p.Ile2089=