Canonical Allele Identifier: CA148150

Gene: CREBBP

Linked Data

• dbSNP Id: rs55916120
• ExAC: 16:3777836 T / C
• gnomAD v2: 16-3777836-T-C
• gnomAD v3: 16-3727835-T-C
• gnomAD v4: 16-3727835-T-C
• MyVariant Identifiers: chr16:g.3777836T>C (hg19) ; chr16:g.3727835T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727835T>C , CM000678.2:g.3727835T>C	GRCh38
NC_000016.9:g.3777836T>C , CM000678.1:g.3777836T>C	GRCh37
NC_000016.8:g.3717837T>C	NCBI36
NG_009873.1:g.157286A>G
NG_009873.2:g.157879A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.7212A>G MANE Select	ENSP00000262367.5:p.Glu2404=
ENST00000262367.9:c.7212A>G	ENSP00000262367.5:p.Glu2404=
ENST00000382070.7:c.7098A>G	ENSP00000371502.3:p.Glu2366=
NM_001079846.1:c.7098A>G	NP_001073315.1:p.Glu2366=
NM_004380.2:c.7212A>G	NP_004371.2:p.Glu2404=
XM_005255124.3:c.7167A>G	XP_005255181.1:p.Glu2389=
XM_005255125.3:c.6795A>G	XP_005255182.1:p.Glu2265=
XM_006720848.2:c.6951A>G	XP_006720911.1:p.Glu2317=
XM_011522380.1:c.7158A>G	XP_011520682.1:p.Glu2386=
XM_011522381.1:c.6459A>G	XP_011520683.1:p.Glu2153=
XM_005255124.4:c.7167A>G	XP_005255181.1:p.Glu2389=
XM_005255125.4:c.6795A>G	XP_005255182.1:p.Glu2265=
XM_006720848.3:c.6951A>G	XP_006720911.1:p.Glu2317=
XM_011522381.2:c.6459A>G	XP_011520683.1:p.Glu2153=
XM_017022944.1:c.7206A>G	XP_016878433.1:p.Glu2402=
NM_004380.3:c.7212A>G MANE Select	NP_004371.2:p.Glu2404=