Canonical Allele Identifier: CA7869198

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 930275
• ClinVar RCV Id: RCV001195818 ; RCV003759031
• dbSNP Id: rs751739281
• ExAC: 16:3779020 C / T
• gnomAD v2: 16-3779020-C-T
• gnomAD v4: 16-3729019-C-T
• MyVariant Identifiers: chr16:g.3779020C>T (hg19) ; chr16:g.3729019C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729019C>T , CM000678.2:g.3729019C>T	GRCh38
NC_000016.9:g.3779020C>T , CM000678.1:g.3779020C>T	GRCh37
NC_000016.8:g.3719021C>T	NCBI36
NG_009873.1:g.156102G>A
NG_009873.2:g.156695G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6028G>A MANE Select	ENSP00000262367.5:p.Gly2010Arg
ENST00000262367.9:c.6028G>A	ENSP00000262367.5:p.Gly2010Arg
ENST00000382070.7:c.5914G>A	ENSP00000371502.3:p.Gly1972Arg
NM_001079846.1:c.5914G>A	NP_001073315.1:p.Gly1972Arg
NM_004380.2:c.6028G>A	NP_004371.2:p.Gly2010Arg
XM_005255124.3:c.5983G>A	XP_005255181.1:p.Gly1995Arg
XM_005255125.3:c.5611G>A	XP_005255182.1:p.Gly1871Arg
XM_006720848.2:c.5767G>A	XP_006720911.1:p.Gly1923Arg
XM_011522380.1:c.5974G>A	XP_011520682.1:p.Gly1992Arg
XM_011522381.1:c.5275G>A	XP_011520683.1:p.Gly1759Arg
XM_005255124.4:c.5983G>A	XP_005255181.1:p.Gly1995Arg
XM_005255125.4:c.5611G>A	XP_005255182.1:p.Gly1871Arg
XM_006720848.3:c.5767G>A	XP_006720911.1:p.Gly1923Arg
XM_011522381.2:c.5275G>A	XP_011520683.1:p.Gly1759Arg
XM_017022944.1:c.6022G>A	XP_016878433.1:p.Gly2008Arg
NM_004380.3:c.6028G>A MANE Select	NP_004371.2:p.Gly2010Arg