Canonical Allele Identifier: CA7869195

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2170895
• ClinVar RCV Id: RCV003095631
• dbSNP Id: rs765101871
• ExAC: 16:3779014 C / T
• gnomAD v2: 16-3779014-C-T
• gnomAD v3: 16-3729013-C-T
• gnomAD v4: 16-3729013-C-T
• MyVariant Identifiers: chr16:g.3779014C>T (hg19) ; chr16:g.3729013C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729013C>T , CM000678.2:g.3729013C>T	GRCh38
NC_000016.9:g.3779014C>T , CM000678.1:g.3779014C>T	GRCh37
NC_000016.8:g.3719015C>T	NCBI36
NG_009873.1:g.156108G>A
NG_009873.2:g.156701G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6034G>A MANE Select	ENSP00000262367.5:p.Val2012Ile
ENST00000262367.9:c.6034G>A	ENSP00000262367.5:p.Val2012Ile
ENST00000382070.7:c.5920G>A	ENSP00000371502.3:p.Val1974Ile
NM_001079846.1:c.5920G>A	NP_001073315.1:p.Val1974Ile
NM_004380.2:c.6034G>A	NP_004371.2:p.Val2012Ile
XM_005255124.3:c.5989G>A	XP_005255181.1:p.Val1997Ile
XM_005255125.3:c.5617G>A	XP_005255182.1:p.Val1873Ile
XM_006720848.2:c.5773G>A	XP_006720911.1:p.Val1925Ile
XM_011522380.1:c.5980G>A	XP_011520682.1:p.Val1994Ile
XM_011522381.1:c.5281G>A	XP_011520683.1:p.Val1761Ile
XM_005255124.4:c.5989G>A	XP_005255181.1:p.Val1997Ile
XM_005255125.4:c.5617G>A	XP_005255182.1:p.Val1873Ile
XM_006720848.3:c.5773G>A	XP_006720911.1:p.Val1925Ile
XM_011522381.2:c.5281G>A	XP_011520683.1:p.Val1761Ile
XM_017022944.1:c.6028G>A	XP_016878433.1:p.Val2010Ile
NM_004380.3:c.6034G>A MANE Select	NP_004371.2:p.Val2012Ile