Canonical Allele Identifier: CA493393997

Gene: CREBBP

Linked Data

• dbSNP Id: rs1335546261
• gnomAD v2: 16-3779018-C-T
• gnomAD v3: 16-3729017-C-T
• gnomAD v4: 16-3729017-C-T
• COSMIC: COSM3988468
• MyVariant Identifiers: chr16:g.3779018C>T (hg19) ; chr16:g.3729017C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729017C>T , CM000678.2:g.3729017C>T	GRCh38
NC_000016.9:g.3779018C>T , CM000678.1:g.3779018C>T	GRCh37
NC_000016.8:g.3719019C>T	NCBI36
NG_009873.1:g.156104G>A
NG_009873.2:g.156697G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6030G>A MANE Select	ENSP00000262367.5:p.Gly2010=
ENST00000262367.9:c.6030G>A	ENSP00000262367.5:p.Gly2010=
ENST00000382070.7:c.5916G>A	ENSP00000371502.3:p.Gly1972=
NM_001079846.1:c.5916G>A	NP_001073315.1:p.Gly1972=
NM_004380.2:c.6030G>A	NP_004371.2:p.Gly2010=
XM_005255124.3:c.5985G>A	XP_005255181.1:p.Gly1995=
XM_005255125.3:c.5613G>A	XP_005255182.1:p.Gly1871=
XM_006720848.2:c.5769G>A	XP_006720911.1:p.Gly1923=
XM_011522380.1:c.5976G>A	XP_011520682.1:p.Gly1992=
XM_011522381.1:c.5277G>A	XP_011520683.1:p.Gly1759=
XM_005255124.4:c.5985G>A	XP_005255181.1:p.Gly1995=
XM_005255125.4:c.5613G>A	XP_005255182.1:p.Gly1871=
XM_006720848.3:c.5769G>A	XP_006720911.1:p.Gly1923=
XM_011522381.2:c.5277G>A	XP_011520683.1:p.Gly1759=
XM_017022944.1:c.6024G>A	XP_016878433.1:p.Gly2008=
NM_004380.3:c.6030G>A MANE Select	NP_004371.2:p.Gly2010=