Canonical Allele Identifier: CA158186

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 133933
• ClinVar RCV Id: RCV000120601 ; RCV000871321 ; RCV001697046 ; RCV002316341
• dbSNP Id: rs148781922
• ExAC: 16:3900336 C / T
• gnomAD v2: 16-3900336-C-T
• gnomAD v3: 16-3850335-C-T
• gnomAD v4: 16-3850335-C-T
• COSMIC: COSM96460
• MyVariant Identifiers: chr16:g.3900336C>T (hg19) ; chr16:g.3850335C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3850335C>T , CM000678.2:g.3850335C>T	GRCh38
NC_000016.9:g.3900336C>T , CM000678.1:g.3900336C>T	GRCh37
NC_000016.8:g.3840337C>T	NCBI36
NG_009873.1:g.34786G>A
NG_009873.2:g.35379G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.760G>A MANE Select	ENSP00000262367.5:p.Ala254Thr
ENST00000262367.9:c.760G>A	ENSP00000262367.5:p.Ala254Thr
ENST00000382070.7:c.760G>A	ENSP00000371502.3:p.Ala254Thr
NM_001079846.1:c.760G>A	NP_001073315.1:p.Ala254Thr
NM_004380.2:c.760G>A	NP_004371.2:p.Ala254Thr
XM_005255124.3:c.760G>A	XP_005255181.1:p.Ala254Thr
XM_005255125.3:c.760G>A	XP_005255182.1:p.Ala254Thr
XM_006720848.2:c.760G>A	XP_006720911.1:p.Ala254Thr
XM_011522380.1:c.706G>A	XP_011520682.1:p.Ala236Thr
XM_011522382.1:c.760G>A	XP_011520684.1:p.Ala254Thr
XM_005255124.4:c.760G>A	XP_005255181.1:p.Ala254Thr
XM_005255125.4:c.760G>A	XP_005255182.1:p.Ala254Thr
XM_006720848.3:c.760G>A	XP_006720911.1:p.Ala254Thr
XM_011522382.3:c.760G>A	XP_011520684.1:p.Ala254Thr
XM_017022944.1:c.760G>A	XP_016878433.1:p.Ala254Thr
NM_004380.3:c.760G>A MANE Select	NP_004371.2:p.Ala254Thr