Canonical Allele Identifier: CA493393994

Gene: CREBBP

Linked Data

• dbSNP Id: rs1437916275
• gnomAD v4: 16-3729254-G-C
• MyVariant Identifiers: chr16:g.3779255G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729254G>C , CM000678.2:g.3729254G>C	GRCh38
NC_000016.9:g.3779255G>C , CM000678.1:g.3779255G>C	GRCh37
NC_000016.8:g.3719256G>C	NCBI36
NG_009873.1:g.155867C>G
NG_009873.2:g.156460C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5793C>G MANE Select	ENSP00000262367.5:p.Thr1931=
ENST00000262367.9:c.5793C>G	ENSP00000262367.5:p.Thr1931=
ENST00000382070.7:c.5679C>G	ENSP00000371502.3:p.Thr1893=
NM_001079846.1:c.5679C>G	NP_001073315.1:p.Thr1893=
NM_004380.2:c.5793C>G	NP_004371.2:p.Thr1931=
XM_005255124.3:c.5748C>G	XP_005255181.1:p.Thr1916=
XM_005255125.3:c.5376C>G	XP_005255182.1:p.Thr1792=
XM_006720848.2:c.5532C>G	XP_006720911.1:p.Thr1844=
XM_011522380.1:c.5739C>G	XP_011520682.1:p.Thr1913=
XM_011522381.1:c.5040C>G	XP_011520683.1:p.Thr1680=
XM_005255124.4:c.5748C>G	XP_005255181.1:p.Thr1916=
XM_005255125.4:c.5376C>G	XP_005255182.1:p.Thr1792=
XM_006720848.3:c.5532C>G	XP_006720911.1:p.Thr1844=
XM_011522381.2:c.5040C>G	XP_011520683.1:p.Thr1680=
XM_017022944.1:c.5787C>G	XP_016878433.1:p.Thr1929=
NM_004380.3:c.5793C>G MANE Select	NP_004371.2:p.Thr1931=