Canonical Allele Identifier: CA394554579

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151306677
• MyVariant Identifiers: chr16:g.3779029G>C (hg19) ; chr16:g.3729028G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729028G>C , CM000678.2:g.3729028G>C	GRCh38
NC_000016.9:g.3779029G>C , CM000678.1:g.3779029G>C	GRCh37
NC_000016.8:g.3719030G>C	NCBI36
NG_009873.1:g.156093C>G
NG_009873.2:g.156686C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6019C>G MANE Select	ENSP00000262367.5:p.Gln2007Glu
ENST00000262367.9:c.6019C>G	ENSP00000262367.5:p.Gln2007Glu
ENST00000382070.7:c.5905C>G	ENSP00000371502.3:p.Gln1969Glu
NM_001079846.1:c.5905C>G	NP_001073315.1:p.Gln1969Glu
NM_004380.2:c.6019C>G	NP_004371.2:p.Gln2007Glu
XM_005255124.3:c.5974C>G	XP_005255181.1:p.Gln1992Glu
XM_005255125.3:c.5602C>G	XP_005255182.1:p.Gln1868Glu
XM_006720848.2:c.5758C>G	XP_006720911.1:p.Gln1920Glu
XM_011522380.1:c.5965C>G	XP_011520682.1:p.Gln1989Glu
XM_011522381.1:c.5266C>G	XP_011520683.1:p.Gln1756Glu
XM_005255124.4:c.5974C>G	XP_005255181.1:p.Gln1992Glu
XM_005255125.4:c.5602C>G	XP_005255182.1:p.Gln1868Glu
XM_006720848.3:c.5758C>G	XP_006720911.1:p.Gln1920Glu
XM_011522381.2:c.5266C>G	XP_011520683.1:p.Gln1756Glu
XM_017022944.1:c.6013C>G	XP_016878433.1:p.Gln2005Glu
NM_004380.3:c.6019C>G MANE Select	NP_004371.2:p.Gln2007Glu