Canonical Allele Identifier: CA394551104

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2440555
• ClinVar RCV Id: RCV003143347
• gnomAD v4: 16-3728098-G-C
• MyVariant Identifiers: chr16:g.3778099G>C (hg19) ; chr16:g.3728098G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728098G>C , CM000678.2:g.3728098G>C	GRCh38
NC_000016.9:g.3778099G>C , CM000678.1:g.3778099G>C	GRCh37
NC_000016.8:g.3718100G>C	NCBI36
NG_009873.1:g.157023C>G
NG_009873.2:g.157616C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6949C>G MANE Select	ENSP00000262367.5:p.Gln2317Glu
ENST00000262367.9:c.6949C>G	ENSP00000262367.5:p.Gln2317Glu
ENST00000382070.7:c.6835C>G	ENSP00000371502.3:p.Gln2279Glu
NM_001079846.1:c.6835C>G	NP_001073315.1:p.Gln2279Glu
NM_004380.2:c.6949C>G	NP_004371.2:p.Gln2317Glu
XM_005255124.3:c.6904C>G	XP_005255181.1:p.Gln2302Glu
XM_005255125.3:c.6532C>G	XP_005255182.1:p.Gln2178Glu
XM_006720848.2:c.6688C>G	XP_006720911.1:p.Gln2230Glu
XM_011522380.1:c.6895C>G	XP_011520682.1:p.Gln2299Glu
XM_011522381.1:c.6196C>G	XP_011520683.1:p.Gln2066Glu
XM_005255124.4:c.6904C>G	XP_005255181.1:p.Gln2302Glu
XM_005255125.4:c.6532C>G	XP_005255182.1:p.Gln2178Glu
XM_006720848.3:c.6688C>G	XP_006720911.1:p.Gln2230Glu
XM_011522381.2:c.6196C>G	XP_011520683.1:p.Gln2066Glu
XM_017022944.1:c.6943C>G	XP_016878433.1:p.Gln2315Glu
NM_004380.3:c.6949C>G MANE Select	NP_004371.2:p.Gln2317Glu