Canonical Allele Identifier: CA7868942

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 587495
• ClinVar RCV Id: RCV002369985 ; RCV000714678
• dbSNP Id: rs756011865
• ExAC: 16:3777886 C / T
• gnomAD v2: 16-3777886-C-T
• gnomAD v4: 16-3727885-C-T
• MyVariant Identifiers: chr16:g.3777886C>T (hg19) ; chr16:g.3727885C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727885C>T , CM000678.2:g.3727885C>T	GRCh38
NC_000016.9:g.3777886C>T , CM000678.1:g.3777886C>T	GRCh37
NC_000016.8:g.3717887C>T	NCBI36
NG_009873.1:g.157236G>A
NG_009873.2:g.157829G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7162G>A MANE Select	ENSP00000262367.5:p.Ala2388Thr
ENST00000262367.9:c.7162G>A	ENSP00000262367.5:p.Ala2388Thr
ENST00000382070.7:c.7048G>A	ENSP00000371502.3:p.Ala2350Thr
NM_001079846.1:c.7048G>A	NP_001073315.1:p.Ala2350Thr
NM_004380.2:c.7162G>A	NP_004371.2:p.Ala2388Thr
XM_005255124.3:c.7117G>A	XP_005255181.1:p.Ala2373Thr
XM_005255125.3:c.6745G>A	XP_005255182.1:p.Ala2249Thr
XM_006720848.2:c.6901G>A	XP_006720911.1:p.Ala2301Thr
XM_011522380.1:c.7108G>A	XP_011520682.1:p.Ala2370Thr
XM_011522381.1:c.6409G>A	XP_011520683.1:p.Ala2137Thr
XM_005255124.4:c.7117G>A	XP_005255181.1:p.Ala2373Thr
XM_005255125.4:c.6745G>A	XP_005255182.1:p.Ala2249Thr
XM_006720848.3:c.6901G>A	XP_006720911.1:p.Ala2301Thr
XM_011522381.2:c.6409G>A	XP_011520683.1:p.Ala2137Thr
XM_017022944.1:c.7156G>A	XP_016878433.1:p.Ala2386Thr
NM_004380.3:c.7162G>A MANE Select	NP_004371.2:p.Ala2388Thr