Canonical Allele Identifier: CA493393306

Gene: CREBBP

Linked Data

• dbSNP Id: rs2051790243
• MyVariant Identifiers: chr16:g.3777917T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727916T>A , CM000678.2:g.3727916T>A	GRCh38
NC_000016.9:g.3777917T>A , CM000678.1:g.3777917T>A	GRCh37
NC_000016.8:g.3717918T>A	NCBI36
NG_009873.1:g.157205A>T
NG_009873.2:g.157798A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7131A>T MANE Select	ENSP00000262367.5:p.Ser2377=
ENST00000262367.9:c.7131A>T	ENSP00000262367.5:p.Ser2377=
ENST00000382070.7:c.7017A>T	ENSP00000371502.3:p.Ser2339=
NM_001079846.1:c.7017A>T	NP_001073315.1:p.Ser2339=
NM_004380.2:c.7131A>T	NP_004371.2:p.Ser2377=
XM_005255124.3:c.7086A>T	XP_005255181.1:p.Ser2362=
XM_005255125.3:c.6714A>T	XP_005255182.1:p.Ser2238=
XM_006720848.2:c.6870A>T	XP_006720911.1:p.Ser2290=
XM_011522380.1:c.7077A>T	XP_011520682.1:p.Ser2359=
XM_011522381.1:c.6378A>T	XP_011520683.1:p.Ser2126=
XM_005255124.4:c.7086A>T	XP_005255181.1:p.Ser2362=
XM_005255125.4:c.6714A>T	XP_005255182.1:p.Ser2238=
XM_006720848.3:c.6870A>T	XP_006720911.1:p.Ser2290=
XM_011522381.2:c.6378A>T	XP_011520683.1:p.Ser2126=
XM_017022944.1:c.7125A>T	XP_016878433.1:p.Ser2375=
NM_004380.3:c.7131A>T MANE Select	NP_004371.2:p.Ser2377=