Canonical Allele Identifier: CA7870069

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2968061
• ClinVar RCV Id: RCV003821187
• dbSNP Id: rs368912102
• ExAC: 16:3820855 T / C
• gnomAD v2: 16-3820855-T-C
• gnomAD v4: 16-3770854-T-C
• MyVariant Identifiers: chr16:g.3820855T>C (hg19) ; chr16:g.3770854T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770854T>C , CM000678.2:g.3770854T>C	GRCh38
NC_000016.9:g.3820855T>C , CM000678.1:g.3820855T>C	GRCh37
NC_000016.8:g.3760856T>C	NCBI36
NG_009873.1:g.114267A>G
NG_009873.2:g.114860A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.2596A>G MANE Select	ENSP00000262367.5:p.Met866Val
ENST00000262367.9:c.2596A>G	ENSP00000262367.5:p.Met866Val
ENST00000382070.7:c.2482A>G	ENSP00000371502.3:p.Met828Val
ENST00000570939.2:c.1201A>G	ENSP00000461002.2:p.Met401Val
NM_001079846.1:c.2482A>G	NP_001073315.1:p.Met828Val
NM_004380.2:c.2596A>G	NP_004371.2:p.Met866Val
XM_005255124.3:c.2551A>G	XP_005255181.1:p.Met851Val
XM_005255125.3:c.2464-1501A>G	XP_005255182.1:n.2464-1501A>G
XM_006720848.2:c.2596A>G	XP_006720911.1:p.Met866Val
XM_011522380.1:c.2542A>G	XP_011520682.1:p.Met848Val
XM_011522381.1:c.1843A>G	XP_011520683.1:p.Met615Val
XM_011522382.1:c.2596A>G	XP_011520684.1:p.Met866Val
XM_005255124.4:c.2551A>G	XP_005255181.1:p.Met851Val
XM_005255125.4:c.2464-1501A>G	XP_005255182.1:n.2464-1501A>G
XM_006720848.3:c.2596A>G	XP_006720911.1:p.Met866Val
XM_011522381.2:c.1843A>G	XP_011520683.1:p.Met615Val
XM_011522382.3:c.2596A>G	XP_011520684.1:p.Met866Val
XM_017022944.1:c.2590A>G	XP_016878433.1:p.Met864Val
NM_004380.3:c.2596A>G MANE Select	NP_004371.2:p.Met866Val