Canonical Allele Identifier: CA394554476

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3729004-T-C
• MyVariant Identifiers: chr16:g.3779005T>C (hg19) ; chr16:g.3729004T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729004T>C , CM000678.2:g.3729004T>C	GRCh38
NC_000016.9:g.3779005T>C , CM000678.1:g.3779005T>C	GRCh37
NC_000016.8:g.3719006T>C	NCBI36
NG_009873.1:g.156117A>G
NG_009873.2:g.156710A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6043A>G MANE Select	ENSP00000262367.5:p.Ser2015Gly
ENST00000262367.9:c.6043A>G	ENSP00000262367.5:p.Ser2015Gly
ENST00000382070.7:c.5929A>G	ENSP00000371502.3:p.Ser1977Gly
NM_001079846.1:c.5929A>G	NP_001073315.1:p.Ser1977Gly
NM_004380.2:c.6043A>G	NP_004371.2:p.Ser2015Gly
XM_005255124.3:c.5998A>G	XP_005255181.1:p.Ser2000Gly
XM_005255125.3:c.5626A>G	XP_005255182.1:p.Ser1876Gly
XM_006720848.2:c.5782A>G	XP_006720911.1:p.Ser1928Gly
XM_011522380.1:c.5989A>G	XP_011520682.1:p.Ser1997Gly
XM_011522381.1:c.5290A>G	XP_011520683.1:p.Ser1764Gly
XM_005255124.4:c.5998A>G	XP_005255181.1:p.Ser2000Gly
XM_005255125.4:c.5626A>G	XP_005255182.1:p.Ser1876Gly
XM_006720848.3:c.5782A>G	XP_006720911.1:p.Ser1928Gly
XM_011522381.2:c.5290A>G	XP_011520683.1:p.Ser1764Gly
XM_017022944.1:c.6037A>G	XP_016878433.1:p.Ser2013Gly
NM_004380.3:c.6043A>G MANE Select	NP_004371.2:p.Ser2015Gly