Canonical Allele Identifier: CA394556131

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310203
• MyVariant Identifiers: chr16:g.3779529A>T (hg19) ; chr16:g.3729528A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729528A>T , CM000678.2:g.3729528A>T	GRCh38
NC_000016.9:g.3779529A>T , CM000678.1:g.3779529A>T	GRCh37
NC_000016.8:g.3719530A>T	NCBI36
NG_009873.1:g.155593T>A
NG_009873.2:g.156186T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5519T>A MANE Select	ENSP00000262367.5:p.Val1840Glu
ENST00000262367.9:c.5519T>A	ENSP00000262367.5:p.Val1840Glu
ENST00000382070.7:c.5405T>A	ENSP00000371502.3:p.Val1802Glu
NM_001079846.1:c.5405T>A	NP_001073315.1:p.Val1802Glu
NM_004380.2:c.5519T>A	NP_004371.2:p.Val1840Glu
XM_005255124.3:c.5474T>A	XP_005255181.1:p.Val1825Glu
XM_005255125.3:c.5102T>A	XP_005255182.1:p.Val1701Glu
XM_006720848.2:c.5258T>A	XP_006720911.1:p.Val1753Glu
XM_011522380.1:c.5465T>A	XP_011520682.1:p.Val1822Glu
XM_011522381.1:c.4766T>A	XP_011520683.1:p.Val1589Glu
XM_005255124.4:c.5474T>A	XP_005255181.1:p.Val1825Glu
XM_005255125.4:c.5102T>A	XP_005255182.1:p.Val1701Glu
XM_006720848.3:c.5258T>A	XP_006720911.1:p.Val1753Glu
XM_011522381.2:c.4766T>A	XP_011520683.1:p.Val1589Glu
XM_017022944.1:c.5513T>A	XP_016878433.1:p.Val1838Glu
NM_004380.3:c.5519T>A MANE Select	NP_004371.2:p.Val1840Glu