Canonical Allele Identifier: CA394554509

Gene: CREBBP

Linked Data

• dbSNP Id: rs1433218994
• gnomAD v4: 16-3729012-A-G
• MyVariant Identifiers: chr16:g.3779013A>G (hg19) ; chr16:g.3729012A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729012A>G , CM000678.2:g.3729012A>G	GRCh38
NC_000016.9:g.3779013A>G , CM000678.1:g.3779013A>G	GRCh37
NC_000016.8:g.3719014A>G	NCBI36
NG_009873.1:g.156109T>C
NG_009873.2:g.156702T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.6035T>C MANE Select	ENSP00000262367.5:p.Val2012Ala
ENST00000262367.9:c.6035T>C	ENSP00000262367.5:p.Val2012Ala
ENST00000382070.7:c.5921T>C	ENSP00000371502.3:p.Val1974Ala
NM_001079846.1:c.5921T>C	NP_001073315.1:p.Val1974Ala
NM_004380.2:c.6035T>C	NP_004371.2:p.Val2012Ala
XM_005255124.3:c.5990T>C	XP_005255181.1:p.Val1997Ala
XM_005255125.3:c.5618T>C	XP_005255182.1:p.Val1873Ala
XM_006720848.2:c.5774T>C	XP_006720911.1:p.Val1925Ala
XM_011522380.1:c.5981T>C	XP_011520682.1:p.Val1994Ala
XM_011522381.1:c.5282T>C	XP_011520683.1:p.Val1761Ala
XM_005255124.4:c.5990T>C	XP_005255181.1:p.Val1997Ala
XM_005255125.4:c.5618T>C	XP_005255182.1:p.Val1873Ala
XM_006720848.3:c.5774T>C	XP_006720911.1:p.Val1925Ala
XM_011522381.2:c.5282T>C	XP_011520683.1:p.Val1761Ala
XM_017022944.1:c.6029T>C	XP_016878433.1:p.Val2010Ala
NM_004380.3:c.6035T>C MANE Select	NP_004371.2:p.Val2012Ala