Canonical Allele Identifier: CA7868974

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1878788
• ClinVar RCV Id: RCV002511289
• dbSNP Id: rs760140366
• ExAC: 16:3778095 T / G
• gnomAD v2: 16-3778095-T-G
• gnomAD v3: 16-3728094-T-G
• gnomAD v4: 16-3728094-T-G
• MyVariant Identifiers: chr16:g.3778095T>G (hg19) ; chr16:g.3728094T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728094T>G , CM000678.2:g.3728094T>G	GRCh38
NC_000016.9:g.3778095T>G , CM000678.1:g.3778095T>G	GRCh37
NC_000016.8:g.3718096T>G	NCBI36
NG_009873.1:g.157027A>C
NG_009873.2:g.157620A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6953A>C MANE Select	ENSP00000262367.5:p.Gln2318Pro
ENST00000262367.9:c.6953A>C	ENSP00000262367.5:p.Gln2318Pro
ENST00000382070.7:c.6839A>C	ENSP00000371502.3:p.Gln2280Pro
NM_001079846.1:c.6839A>C	NP_001073315.1:p.Gln2280Pro
NM_004380.2:c.6953A>C	NP_004371.2:p.Gln2318Pro
XM_005255124.3:c.6908A>C	XP_005255181.1:p.Gln2303Pro
XM_005255125.3:c.6536A>C	XP_005255182.1:p.Gln2179Pro
XM_006720848.2:c.6692A>C	XP_006720911.1:p.Gln2231Pro
XM_011522380.1:c.6899A>C	XP_011520682.1:p.Gln2300Pro
XM_011522381.1:c.6200A>C	XP_011520683.1:p.Gln2067Pro
XM_005255124.4:c.6908A>C	XP_005255181.1:p.Gln2303Pro
XM_005255125.4:c.6536A>C	XP_005255182.1:p.Gln2179Pro
XM_006720848.3:c.6692A>C	XP_006720911.1:p.Gln2231Pro
XM_011522381.2:c.6200A>C	XP_011520683.1:p.Gln2067Pro
XM_017022944.1:c.6947A>C	XP_016878433.1:p.Gln2316Pro
NM_004380.3:c.6953A>C MANE Select	NP_004371.2:p.Gln2318Pro