Canonical Allele Identifier: CA276973383

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 3026613
• ClinVar RCV Id: RCV003887006
• dbSNP Id: rs887083653
• gnomAD v3: 16-3778027-T-C
• gnomAD v4: 16-3778027-T-C
• MyVariant Identifiers: chr16:g.3828028T>C (hg19) ; chr16:g.3778027T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778027T>C , CM000678.2:g.3778027T>C	GRCh38
NC_000016.9:g.3828028T>C , CM000678.1:g.3828028T>C	GRCh37
NC_000016.8:g.3768029T>C	NCBI36
NG_009873.1:g.107094A>G
NG_009873.2:g.107687A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2097A>G MANE Select	ENSP00000262367.5:p.Gln699=
ENST00000262367.9:c.2097A>G	ENSP00000262367.5:p.Gln699=
ENST00000382070.7:c.1983A>G	ENSP00000371502.3:p.Gln661=
ENST00000570939.2:c.702A>G	ENSP00000461002.2:p.Gln234=
ENST00000571826.5:c.146A>G
ENST00000572134.1:c.410A>G
ENST00000634839.1:n.259A>G
NM_001079846.1:c.1983A>G	NP_001073315.1:p.Gln661=
NM_004380.2:c.2097A>G	NP_004371.2:p.Gln699=
XM_005255124.3:c.2097A>G	XP_005255181.1:p.Gln699=
XM_005255125.3:c.2097A>G	XP_005255182.1:p.Gln699=
XM_006720848.2:c.2097A>G	XP_006720911.1:p.Gln699=
XM_011522380.1:c.2043A>G	XP_011520682.1:p.Gln681=
XM_011522381.1:c.1344A>G	XP_011520683.1:p.Gln448=
XM_011522382.1:c.2097A>G	XP_011520684.1:p.Gln699=
XM_005255124.4:c.2097A>G	XP_005255181.1:p.Gln699=
XM_005255125.4:c.2097A>G	XP_005255182.1:p.Gln699=
XM_006720848.3:c.2097A>G	XP_006720911.1:p.Gln699=
XM_011522381.2:c.1344A>G	XP_011520683.1:p.Gln448=
XM_011522382.3:c.2097A>G	XP_011520684.1:p.Gln699=
XM_017022944.1:c.2097A>G	XP_016878433.1:p.Gln699=
NM_004380.3:c.2097A>G MANE Select	NP_004371.2:p.Gln699=