Canonical Allele Identifier: CA394554465

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3729002-G-T
• MyVariant Identifiers: chr16:g.3779003G>T (hg19) ; chr16:g.3729002G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729002G>T , CM000678.2:g.3729002G>T	GRCh38
NC_000016.9:g.3779003G>T , CM000678.1:g.3779003G>T	GRCh37
NC_000016.8:g.3719004G>T	NCBI36
NG_009873.1:g.156119C>A
NG_009873.2:g.156712C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6045C>A MANE Select	ENSP00000262367.5:p.Ser2015Arg
ENST00000262367.9:c.6045C>A	ENSP00000262367.5:p.Ser2015Arg
ENST00000382070.7:c.5931C>A	ENSP00000371502.3:p.Ser1977Arg
NM_001079846.1:c.5931C>A	NP_001073315.1:p.Ser1977Arg
NM_004380.2:c.6045C>A	NP_004371.2:p.Ser2015Arg
XM_005255124.3:c.6000C>A	XP_005255181.1:p.Ser2000Arg
XM_005255125.3:c.5628C>A	XP_005255182.1:p.Ser1876Arg
XM_006720848.2:c.5784C>A	XP_006720911.1:p.Ser1928Arg
XM_011522380.1:c.5991C>A	XP_011520682.1:p.Ser1997Arg
XM_011522381.1:c.5292C>A	XP_011520683.1:p.Ser1764Arg
XM_005255124.4:c.6000C>A	XP_005255181.1:p.Ser2000Arg
XM_005255125.4:c.5628C>A	XP_005255182.1:p.Ser1876Arg
XM_006720848.3:c.5784C>A	XP_006720911.1:p.Ser1928Arg
XM_011522381.2:c.5292C>A	XP_011520683.1:p.Ser1764Arg
XM_017022944.1:c.6039C>A	XP_016878433.1:p.Ser2013Arg
NM_004380.3:c.6045C>A MANE Select	NP_004371.2:p.Ser2015Arg