Canonical Allele Identifier: CA16620198

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 422204
• ClinVar RCV Id: RCV000487189
• dbSNP Id: rs1064795628
• MyVariant Identifiers: chr16:g.3779478T>G (hg19) ; chr16:g.3729477T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729477T>G , CM000678.2:g.3729477T>G	GRCh38
NC_000016.9:g.3779478T>G , CM000678.1:g.3779478T>G	GRCh37
NC_000016.8:g.3719479T>G	NCBI36
NG_009873.1:g.155644A>C
NG_009873.2:g.156237A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5570A>C MANE Select	ENSP00000262367.5:p.His1857Pro
ENST00000262367.9:c.5570A>C	ENSP00000262367.5:p.His1857Pro
ENST00000382070.7:c.5456A>C	ENSP00000371502.3:p.His1819Pro
NM_001079846.1:c.5456A>C	NP_001073315.1:p.His1819Pro
NM_004380.2:c.5570A>C	NP_004371.2:p.His1857Pro
XM_005255124.3:c.5525A>C	XP_005255181.1:p.His1842Pro
XM_005255125.3:c.5153A>C	XP_005255182.1:p.His1718Pro
XM_006720848.2:c.5309A>C	XP_006720911.1:p.His1770Pro
XM_011522380.1:c.5516A>C	XP_011520682.1:p.His1839Pro
XM_011522381.1:c.4817A>C	XP_011520683.1:p.His1606Pro
XM_005255124.4:c.5525A>C	XP_005255181.1:p.His1842Pro
XM_005255125.4:c.5153A>C	XP_005255182.1:p.His1718Pro
XM_006720848.3:c.5309A>C	XP_006720911.1:p.His1770Pro
XM_011522381.2:c.4817A>C	XP_011520683.1:p.His1606Pro
XM_017022944.1:c.5564A>C	XP_016878433.1:p.His1855Pro
NM_004380.3:c.5570A>C MANE Select	NP_004371.2:p.His1857Pro