Canonical Allele Identifier: CA394555597

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151308481
• MyVariant Identifiers: chr16:g.3779292G>C (hg19) ; chr16:g.3729291G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729291G>C , CM000678.2:g.3729291G>C	GRCh38
NC_000016.9:g.3779292G>C , CM000678.1:g.3779292G>C	GRCh37
NC_000016.8:g.3719293G>C	NCBI36
NG_009873.1:g.155830C>G
NG_009873.2:g.156423C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5756C>G MANE Select	ENSP00000262367.5:p.Ala1919Gly
ENST00000262367.9:c.5756C>G	ENSP00000262367.5:p.Ala1919Gly
ENST00000382070.7:c.5642C>G	ENSP00000371502.3:p.Ala1881Gly
NM_001079846.1:c.5642C>G	NP_001073315.1:p.Ala1881Gly
NM_004380.2:c.5756C>G	NP_004371.2:p.Ala1919Gly
XM_005255124.3:c.5711C>G	XP_005255181.1:p.Ala1904Gly
XM_005255125.3:c.5339C>G	XP_005255182.1:p.Ala1780Gly
XM_006720848.2:c.5495C>G	XP_006720911.1:p.Ala1832Gly
XM_011522380.1:c.5702C>G	XP_011520682.1:p.Ala1901Gly
XM_011522381.1:c.5003C>G	XP_011520683.1:p.Ala1668Gly
XM_005255124.4:c.5711C>G	XP_005255181.1:p.Ala1904Gly
XM_005255125.4:c.5339C>G	XP_005255182.1:p.Ala1780Gly
XM_006720848.3:c.5495C>G	XP_006720911.1:p.Ala1832Gly
XM_011522381.2:c.5003C>G	XP_011520683.1:p.Ala1668Gly
XM_017022944.1:c.5750C>G	XP_016878433.1:p.Ala1917Gly
NM_004380.3:c.5756C>G MANE Select	NP_004371.2:p.Ala1919Gly