Canonical Allele Identifier: CA394553896

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305506
• MyVariant Identifiers: chr16:g.3778842T>C (hg19) ; chr16:g.3728841T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728841T>C , CM000678.2:g.3728841T>C	GRCh38
NC_000016.9:g.3778842T>C , CM000678.1:g.3778842T>C	GRCh37
NC_000016.8:g.3718843T>C	NCBI36
NG_009873.1:g.156280A>G
NG_009873.2:g.156873A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.6206A>G MANE Select	ENSP00000262367.5:p.Asp2069Gly
ENST00000262367.9:c.6206A>G	ENSP00000262367.5:p.Asp2069Gly
ENST00000382070.7:c.6092A>G	ENSP00000371502.3:p.Asp2031Gly
NM_001079846.1:c.6092A>G	NP_001073315.1:p.Asp2031Gly
NM_004380.2:c.6206A>G	NP_004371.2:p.Asp2069Gly
XM_005255124.3:c.6161A>G	XP_005255181.1:p.Asp2054Gly
XM_005255125.3:c.5789A>G	XP_005255182.1:p.Asp1930Gly
XM_006720848.2:c.5945A>G	XP_006720911.1:p.Asp1982Gly
XM_011522380.1:c.6152A>G	XP_011520682.1:p.Asp2051Gly
XM_011522381.1:c.5453A>G	XP_011520683.1:p.Asp1818Gly
XM_005255124.4:c.6161A>G	XP_005255181.1:p.Asp2054Gly
XM_005255125.4:c.5789A>G	XP_005255182.1:p.Asp1930Gly
XM_006720848.3:c.5945A>G	XP_006720911.1:p.Asp1982Gly
XM_011522381.2:c.5453A>G	XP_011520683.1:p.Asp1818Gly
XM_017022944.1:c.6200A>G	XP_016878433.1:p.Asp2067Gly
NM_004380.3:c.6206A>G MANE Select	NP_004371.2:p.Asp2069Gly