Canonical Allele Identifier: CA394563275

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 3027097
• ClinVar RCV Id: RCV003887490
• dbSNP Id: rs2151329120
• MyVariant Identifiers: chr16:g.3786657G>C (hg19) ; chr16:g.3736656G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736656G>C , CM000678.2:g.3736656G>C	GRCh38
NC_000016.9:g.3786657G>C , CM000678.1:g.3786657G>C	GRCh37
NC_000016.8:g.3726658G>C	NCBI36
NG_009873.1:g.148465C>G
NG_009873.2:g.149058C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4554C>G MANE Select	ENSP00000262367.5:p.Asp1518Glu
ENST00000262367.9:c.4554C>G	ENSP00000262367.5:p.Asp1518Glu
ENST00000382070.7:c.4440C>G	ENSP00000371502.3:p.Asp1480Glu
ENST00000570939.2:c.3189C>G	ENSP00000461002.2:p.Asp1063Glu
ENST00000571763.5:n.344C>G
ENST00000574740.1:n.375C>G
ENST00000576720.1:n.3377C>G
NM_001079846.1:c.4440C>G	NP_001073315.1:p.Asp1480Glu
NM_004380.2:c.4554C>G	NP_004371.2:p.Asp1518Glu
XM_005255124.3:c.4509C>G	XP_005255181.1:p.Asp1503Glu
XM_005255125.3:c.4137C>G	XP_005255182.1:p.Asp1379Glu
XM_006720848.2:c.4293C>G	XP_006720911.1:p.Asp1431Glu
XM_011522380.1:c.4500C>G	XP_011520682.1:p.Asp1500Glu
XM_011522381.1:c.3801C>G	XP_011520683.1:p.Asp1267Glu
XM_005255124.4:c.4509C>G	XP_005255181.1:p.Asp1503Glu
XM_005255125.4:c.4137C>G	XP_005255182.1:p.Asp1379Glu
XM_006720848.3:c.4293C>G	XP_006720911.1:p.Asp1431Glu
XM_011522381.2:c.3801C>G	XP_011520683.1:p.Asp1267Glu
XM_017022944.1:c.4548C>G	XP_016878433.1:p.Asp1516Glu
NM_004380.3:c.4554C>G MANE Select	NP_004371.2:p.Asp1518Glu