Canonical Allele Identifier: CA394556281

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1329488
• ClinVar RCV Id: RCV001799564
• dbSNP Id: rs1448187215
• MyVariant Identifiers: chr16:g.3779586T>C (hg19) ; chr16:g.3729585T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729585T>C , CM000678.2:g.3729585T>C	GRCh38
NC_000016.9:g.3779586T>C , CM000678.1:g.3779586T>C	GRCh37
NC_000016.8:g.3719587T>C	NCBI36
NG_009873.1:g.155536A>G
NG_009873.2:g.156129A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5462A>G MANE Select	ENSP00000262367.5:p.Gln1821Arg
ENST00000262367.9:c.5462A>G	ENSP00000262367.5:p.Gln1821Arg
ENST00000382070.7:c.5348A>G	ENSP00000371502.3:p.Gln1783Arg
NM_001079846.1:c.5348A>G	NP_001073315.1:p.Gln1783Arg
NM_004380.2:c.5462A>G	NP_004371.2:p.Gln1821Arg
XM_005255124.3:c.5417A>G	XP_005255181.1:p.Gln1806Arg
XM_005255125.3:c.5045A>G	XP_005255182.1:p.Gln1682Arg
XM_006720848.2:c.5201A>G	XP_006720911.1:p.Gln1734Arg
XM_011522380.1:c.5408A>G	XP_011520682.1:p.Gln1803Arg
XM_011522381.1:c.4709A>G	XP_011520683.1:p.Gln1570Arg
XM_005255124.4:c.5417A>G	XP_005255181.1:p.Gln1806Arg
XM_005255125.4:c.5045A>G	XP_005255182.1:p.Gln1682Arg
XM_006720848.3:c.5201A>G	XP_006720911.1:p.Gln1734Arg
XM_011522381.2:c.4709A>G	XP_011520683.1:p.Gln1570Arg
XM_017022944.1:c.5456A>G	XP_016878433.1:p.Gln1819Arg
NM_004380.3:c.5462A>G MANE Select	NP_004371.2:p.Gln1821Arg