Canonical Allele Identifier: CA394556444

Gene: CREBBP

Linked Data

• dbSNP Id: rs2051856201
• MyVariant Identifiers: chr16:g.3779620G>C (hg19) ; chr16:g.3729619G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729619G>C , CM000678.2:g.3729619G>C	GRCh38
NC_000016.9:g.3779620G>C , CM000678.1:g.3779620G>C	GRCh37
NC_000016.8:g.3719621G>C	NCBI36
NG_009873.1:g.155502C>G
NG_009873.2:g.156095C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5428C>G MANE Select	ENSP00000262367.5:p.Arg1810Gly
ENST00000262367.9:c.5428C>G	ENSP00000262367.5:p.Arg1810Gly
ENST00000382070.7:c.5314C>G	ENSP00000371502.3:p.Arg1772Gly
NM_001079846.1:c.5314C>G	NP_001073315.1:p.Arg1772Gly
NM_004380.2:c.5428C>G	NP_004371.2:p.Arg1810Gly
XM_005255124.3:c.5383C>G	XP_005255181.1:p.Arg1795Gly
XM_005255125.3:c.5011C>G	XP_005255182.1:p.Arg1671Gly
XM_006720848.2:c.5167C>G	XP_006720911.1:p.Arg1723Gly
XM_011522380.1:c.5374C>G	XP_011520682.1:p.Arg1792Gly
XM_011522381.1:c.4675C>G	XP_011520683.1:p.Arg1559Gly
XM_005255124.4:c.5383C>G	XP_005255181.1:p.Arg1795Gly
XM_005255125.4:c.5011C>G	XP_005255182.1:p.Arg1671Gly
XM_006720848.3:c.5167C>G	XP_006720911.1:p.Arg1723Gly
XM_011522381.2:c.4675C>G	XP_011520683.1:p.Arg1559Gly
XM_017022944.1:c.5422C>G	XP_016878433.1:p.Arg1808Gly
NM_004380.3:c.5428C>G MANE Select	NP_004371.2:p.Arg1810Gly