Canonical Allele Identifier: CA394557777

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 800310
• ClinVar RCV Id: RCV000984087
• dbSNP Id: rs1159294530
• gnomAD v2: 16-3779860-T-C
• gnomAD v4: 16-3729859-T-C
• MyVariant Identifiers: chr16:g.3779860T>C (hg19) ; chr16:g.3729859T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729859T>C , CM000678.2:g.3729859T>C	GRCh38
NC_000016.9:g.3779860T>C , CM000678.1:g.3779860T>C	GRCh37
NC_000016.8:g.3719861T>C	NCBI36
NG_009873.1:g.155262A>G
NG_009873.2:g.155855A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5188A>G MANE Select	ENSP00000262367.5:p.Ile1730Val
ENST00000262367.9:c.5188A>G	ENSP00000262367.5:p.Ile1730Val
ENST00000382070.7:c.5074A>G	ENSP00000371502.3:p.Ile1692Val
NM_001079846.1:c.5074A>G	NP_001073315.1:p.Ile1692Val
NM_004380.2:c.5188A>G	NP_004371.2:p.Ile1730Val
XM_005255124.3:c.5143A>G	XP_005255181.1:p.Ile1715Val
XM_005255125.3:c.4771A>G	XP_005255182.1:p.Ile1591Val
XM_006720848.2:c.4927A>G	XP_006720911.1:p.Ile1643Val
XM_011522380.1:c.5134A>G	XP_011520682.1:p.Ile1712Val
XM_011522381.1:c.4435A>G	XP_011520683.1:p.Ile1479Val
XM_005255124.4:c.5143A>G	XP_005255181.1:p.Ile1715Val
XM_005255125.4:c.4771A>G	XP_005255182.1:p.Ile1591Val
XM_006720848.3:c.4927A>G	XP_006720911.1:p.Ile1643Val
XM_011522381.2:c.4435A>G	XP_011520683.1:p.Ile1479Val
XM_017022944.1:c.5182A>G	XP_016878433.1:p.Ile1728Val
NM_004380.3:c.5188A>G MANE Select	NP_004371.2:p.Ile1730Val