Canonical Allele Identifier: CA7869275

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1747832
• ClinVar RCV Id: RCV002349884 ; RCV003096764
• dbSNP Id: rs763643418
• ExAC: 16:3779559 G / C
• gnomAD v2: 16-3779559-G-C
• gnomAD v4: 16-3729558-G-C
• MyVariant Identifiers: chr16:g.3779559G>C (hg19) ; chr16:g.3729558G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729558G>C , CM000678.2:g.3729558G>C	GRCh38
NC_000016.9:g.3779559G>C , CM000678.1:g.3779559G>C	GRCh37
NC_000016.8:g.3719560G>C	NCBI36
NG_009873.1:g.155563C>G
NG_009873.2:g.156156C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5489C>G MANE Select	ENSP00000262367.5:p.Ala1830Gly
ENST00000262367.9:c.5489C>G	ENSP00000262367.5:p.Ala1830Gly
ENST00000382070.7:c.5375C>G	ENSP00000371502.3:p.Ala1792Gly
NM_001079846.1:c.5375C>G	NP_001073315.1:p.Ala1792Gly
NM_004380.2:c.5489C>G	NP_004371.2:p.Ala1830Gly
XM_005255124.3:c.5444C>G	XP_005255181.1:p.Ala1815Gly
XM_005255125.3:c.5072C>G	XP_005255182.1:p.Ala1691Gly
XM_006720848.2:c.5228C>G	XP_006720911.1:p.Ala1743Gly
XM_011522380.1:c.5435C>G	XP_011520682.1:p.Ala1812Gly
XM_011522381.1:c.4736C>G	XP_011520683.1:p.Ala1579Gly
XM_005255124.4:c.5444C>G	XP_005255181.1:p.Ala1815Gly
XM_005255125.4:c.5072C>G	XP_005255182.1:p.Ala1691Gly
XM_006720848.3:c.5228C>G	XP_006720911.1:p.Ala1743Gly
XM_011522381.2:c.4736C>G	XP_011520683.1:p.Ala1579Gly
XM_017022944.1:c.5483C>G	XP_016878433.1:p.Ala1828Gly
NM_004380.3:c.5489C>G MANE Select	NP_004371.2:p.Ala1830Gly