Canonical Allele Identifier: CA493393104

Gene: CREBBP

Linked Data

• dbSNP Id: rs2051784943
• gnomAD v4: 16-3727778-T-C
• MyVariant Identifiers: chr16:g.3777779T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727778T>C , CM000678.2:g.3727778T>C	GRCh38
NC_000016.9:g.3777779T>C , CM000678.1:g.3777779T>C	GRCh37
NC_000016.8:g.3717780T>C	NCBI36
NG_009873.1:g.157343A>G
NG_009873.2:g.157936A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7269A>G MANE Select	ENSP00000262367.5:p.Glu2423=
ENST00000262367.9:c.7269A>G	ENSP00000262367.5:p.Glu2423=
ENST00000382070.7:c.7155A>G	ENSP00000371502.3:p.Glu2385=
NM_001079846.1:c.7155A>G	NP_001073315.1:p.Glu2385=
NM_004380.2:c.7269A>G	NP_004371.2:p.Glu2423=
XM_005255124.3:c.7224A>G	XP_005255181.1:p.Glu2408=
XM_005255125.3:c.6852A>G	XP_005255182.1:p.Glu2284=
XM_006720848.2:c.7008A>G	XP_006720911.1:p.Glu2336=
XM_011522380.1:c.7215A>G	XP_011520682.1:p.Glu2405=
XM_011522381.1:c.6516A>G	XP_011520683.1:p.Glu2172=
XM_005255124.4:c.7224A>G	XP_005255181.1:p.Glu2408=
XM_005255125.4:c.6852A>G	XP_005255182.1:p.Glu2284=
XM_006720848.3:c.7008A>G	XP_006720911.1:p.Glu2336=
XM_011522381.2:c.6516A>G	XP_011520683.1:p.Glu2172=
XM_017022944.1:c.7263A>G	XP_016878433.1:p.Glu2421=
NM_004380.3:c.7269A>G MANE Select	NP_004371.2:p.Glu2423=