Canonical Allele Identifier: CA493393292

Gene: CREBBP

Linked Data

• dbSNP Id: rs2051789870
• MyVariant Identifiers: chr16:g.3777905A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727904A>C , CM000678.2:g.3727904A>C	GRCh38
NC_000016.9:g.3777905A>C , CM000678.1:g.3777905A>C	GRCh37
NC_000016.8:g.3717906A>C	NCBI36
NG_009873.1:g.157217T>G
NG_009873.2:g.157810T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7143T>G MANE Select	ENSP00000262367.5:p.Gly2381=
ENST00000262367.9:c.7143T>G	ENSP00000262367.5:p.Gly2381=
ENST00000382070.7:c.7029T>G	ENSP00000371502.3:p.Gly2343=
NM_001079846.1:c.7029T>G	NP_001073315.1:p.Gly2343=
NM_004380.2:c.7143T>G	NP_004371.2:p.Gly2381=
XM_005255124.3:c.7098T>G	XP_005255181.1:p.Gly2366=
XM_005255125.3:c.6726T>G	XP_005255182.1:p.Gly2242=
XM_006720848.2:c.6882T>G	XP_006720911.1:p.Gly2294=
XM_011522380.1:c.7089T>G	XP_011520682.1:p.Gly2363=
XM_011522381.1:c.6390T>G	XP_011520683.1:p.Gly2130=
XM_005255124.4:c.7098T>G	XP_005255181.1:p.Gly2366=
XM_005255125.4:c.6726T>G	XP_005255182.1:p.Gly2242=
XM_006720848.3:c.6882T>G	XP_006720911.1:p.Gly2294=
XM_011522381.2:c.6390T>G	XP_011520683.1:p.Gly2130=
XM_017022944.1:c.7137T>G	XP_016878433.1:p.Gly2379=
NM_004380.3:c.7143T>G MANE Select	NP_004371.2:p.Gly2381=