Canonical Allele Identifier: CA394556014

Gene: CREBBP

Linked Data

• dbSNP Id: rs2051852330
• MyVariant Identifiers: chr16:g.3779487T>C (hg19) ; chr16:g.3729486T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729486T>C , CM000678.2:g.3729486T>C	GRCh38
NC_000016.9:g.3779487T>C , CM000678.1:g.3779487T>C	GRCh37
NC_000016.8:g.3719488T>C	NCBI36
NG_009873.1:g.155635A>G
NG_009873.2:g.156228A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5561A>G MANE Select	ENSP00000262367.5:p.Gln1854Arg
ENST00000262367.9:c.5561A>G	ENSP00000262367.5:p.Gln1854Arg
ENST00000382070.7:c.5447A>G	ENSP00000371502.3:p.Gln1816Arg
NM_001079846.1:c.5447A>G	NP_001073315.1:p.Gln1816Arg
NM_004380.2:c.5561A>G	NP_004371.2:p.Gln1854Arg
XM_005255124.3:c.5516A>G	XP_005255181.1:p.Gln1839Arg
XM_005255125.3:c.5144A>G	XP_005255182.1:p.Gln1715Arg
XM_006720848.2:c.5300A>G	XP_006720911.1:p.Gln1767Arg
XM_011522380.1:c.5507A>G	XP_011520682.1:p.Gln1836Arg
XM_011522381.1:c.4808A>G	XP_011520683.1:p.Gln1603Arg
XM_005255124.4:c.5516A>G	XP_005255181.1:p.Gln1839Arg
XM_005255125.4:c.5144A>G	XP_005255182.1:p.Gln1715Arg
XM_006720848.3:c.5300A>G	XP_006720911.1:p.Gln1767Arg
XM_011522381.2:c.4808A>G	XP_011520683.1:p.Gln1603Arg
XM_017022944.1:c.5555A>G	XP_016878433.1:p.Gln1852Arg
NM_004380.3:c.5561A>G MANE Select	NP_004371.2:p.Gln1854Arg