Canonical Allele Identifier: CA394556193

Gene: CREBBP

Linked Data

• dbSNP Id: rs1349098263
• MyVariant Identifiers: chr16:g.3779553T>G (hg19) ; chr16:g.3729552T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729552T>G , CM000678.2:g.3729552T>G	GRCh38
NC_000016.9:g.3779553T>G , CM000678.1:g.3779553T>G	GRCh37
NC_000016.8:g.3719554T>G	NCBI36
NG_009873.1:g.155569A>C
NG_009873.2:g.156162A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5495A>C MANE Select	ENSP00000262367.5:p.His1832Pro
ENST00000262367.9:c.5495A>C	ENSP00000262367.5:p.His1832Pro
ENST00000382070.7:c.5381A>C	ENSP00000371502.3:p.His1794Pro
NM_001079846.1:c.5381A>C	NP_001073315.1:p.His1794Pro
NM_004380.2:c.5495A>C	NP_004371.2:p.His1832Pro
XM_005255124.3:c.5450A>C	XP_005255181.1:p.His1817Pro
XM_005255125.3:c.5078A>C	XP_005255182.1:p.His1693Pro
XM_006720848.2:c.5234A>C	XP_006720911.1:p.His1745Pro
XM_011522380.1:c.5441A>C	XP_011520682.1:p.His1814Pro
XM_011522381.1:c.4742A>C	XP_011520683.1:p.His1581Pro
XM_005255124.4:c.5450A>C	XP_005255181.1:p.His1817Pro
XM_005255125.4:c.5078A>C	XP_005255182.1:p.His1693Pro
XM_006720848.3:c.5234A>C	XP_006720911.1:p.His1745Pro
XM_011522381.2:c.4742A>C	XP_011520683.1:p.His1581Pro
XM_017022944.1:c.5489A>C	XP_016878433.1:p.His1830Pro
NM_004380.3:c.5495A>C MANE Select	NP_004371.2:p.His1832Pro