Canonical Allele Identifier: CA277274

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 210782
• ClinVar RCV Id: RCV000194204
• dbSNP Id: rs797045496
• MyVariant Identifiers: chr16:g.3779636G>T (hg19) ; chr16:g.3729635G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729635G>T , CM000678.2:g.3729635G>T	GRCh38
NC_000016.9:g.3779636G>T , CM000678.1:g.3779636G>T	GRCh37
NC_000016.8:g.3719637G>T	NCBI36
NG_009873.1:g.155486C>A
NG_009873.2:g.156079C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5412C>A MANE Select	ENSP00000262367.5:p.His1804Gln
ENST00000262367.9:c.5412C>A	ENSP00000262367.5:p.His1804Gln
ENST00000382070.7:c.5298C>A	ENSP00000371502.3:p.His1766Gln
NM_001079846.1:c.5298C>A	NP_001073315.1:p.His1766Gln
NM_004380.2:c.5412C>A	NP_004371.2:p.His1804Gln
XM_005255124.3:c.5367C>A	XP_005255181.1:p.His1789Gln
XM_005255125.3:c.4995C>A	XP_005255182.1:p.His1665Gln
XM_006720848.2:c.5151C>A	XP_006720911.1:p.His1717Gln
XM_011522380.1:c.5358C>A	XP_011520682.1:p.His1786Gln
XM_011522381.1:c.4659C>A	XP_011520683.1:p.His1553Gln
XM_005255124.4:c.5367C>A	XP_005255181.1:p.His1789Gln
XM_005255125.4:c.4995C>A	XP_005255182.1:p.His1665Gln
XM_006720848.3:c.5151C>A	XP_006720911.1:p.His1717Gln
XM_011522381.2:c.4659C>A	XP_011520683.1:p.His1553Gln
XM_017022944.1:c.5406C>A	XP_016878433.1:p.His1802Gln
NM_004380.3:c.5412C>A MANE Select	NP_004371.2:p.His1804Gln