Canonical Allele Identifier: CA394556283

Gene: CREBBP

Linked Data

• dbSNP Id: rs1448187215
• gnomAD v2: 16-3779586-T-G
• gnomAD v4: 16-3729585-T-G
• MyVariant Identifiers: chr16:g.3779586T>G (hg19) ; chr16:g.3729585T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5462A>C MANE Select	ENSP00000262367.5:p.Gln1821Pro
ENST00000262367.9:c.5462A>C	ENSP00000262367.5:p.Gln1821Pro
ENST00000382070.7:c.5348A>C	ENSP00000371502.3:p.Gln1783Pro
NM_001079846.1:c.5348A>C	NP_001073315.1:p.Gln1783Pro
NM_004380.2:c.5462A>C	NP_004371.2:p.Gln1821Pro
XM_005255124.3:c.5417A>C	XP_005255181.1:p.Gln1806Pro
XM_005255125.3:c.5045A>C	XP_005255182.1:p.Gln1682Pro
XM_006720848.2:c.5201A>C	XP_006720911.1:p.Gln1734Pro
XM_011522380.1:c.5408A>C	XP_011520682.1:p.Gln1803Pro
XM_011522381.1:c.4709A>C	XP_011520683.1:p.Gln1570Pro
XM_005255124.4:c.5417A>C	XP_005255181.1:p.Gln1806Pro
XM_005255125.4:c.5045A>C	XP_005255182.1:p.Gln1682Pro
XM_006720848.3:c.5201A>C	XP_006720911.1:p.Gln1734Pro
XM_011522381.2:c.4709A>C	XP_011520683.1:p.Gln1570Pro
XM_017022944.1:c.5456A>C	XP_016878433.1:p.Gln1819Pro
NM_004380.3:c.5462A>C MANE Select	NP_004371.2:p.Gln1821Pro