Canonical Allele Identifier: CA493394278

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310268
• MyVariant Identifiers: chr16:g.3779537T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729536T>C , CM000678.2:g.3729536T>C	GRCh38
NC_000016.9:g.3779537T>C , CM000678.1:g.3779537T>C	GRCh37
NC_000016.8:g.3719538T>C	NCBI36
NG_009873.1:g.155585A>G
NG_009873.2:g.156178A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5511A>G MANE Select	ENSP00000262367.5:p.Lys1837=
ENST00000262367.9:c.5511A>G	ENSP00000262367.5:p.Lys1837=
ENST00000382070.7:c.5397A>G	ENSP00000371502.3:p.Lys1799=
NM_001079846.1:c.5397A>G	NP_001073315.1:p.Lys1799=
NM_004380.2:c.5511A>G	NP_004371.2:p.Lys1837=
XM_005255124.3:c.5466A>G	XP_005255181.1:p.Lys1822=
XM_005255125.3:c.5094A>G	XP_005255182.1:p.Lys1698=
XM_006720848.2:c.5250A>G	XP_006720911.1:p.Lys1750=
XM_011522380.1:c.5457A>G	XP_011520682.1:p.Lys1819=
XM_011522381.1:c.4758A>G	XP_011520683.1:p.Lys1586=
XM_005255124.4:c.5466A>G	XP_005255181.1:p.Lys1822=
XM_005255125.4:c.5094A>G	XP_005255182.1:p.Lys1698=
XM_006720848.3:c.5250A>G	XP_006720911.1:p.Lys1750=
XM_011522381.2:c.4758A>G	XP_011520683.1:p.Lys1586=
XM_017022944.1:c.5505A>G	XP_016878433.1:p.Lys1835=
NM_004380.3:c.5511A>G MANE Select	NP_004371.2:p.Lys1837=