Canonical Allele Identifier: CA493393832

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151306039
• MyVariant Identifiers: chr16:g.3778931C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728930C>T , CM000678.2:g.3728930C>T	GRCh38
NC_000016.9:g.3778931C>T , CM000678.1:g.3778931C>T	GRCh37
NC_000016.8:g.3718932C>T	NCBI36
NG_009873.1:g.156191G>A
NG_009873.2:g.156784G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6117G>A MANE Select	ENSP00000262367.5:p.Val2039=
ENST00000262367.9:c.6117G>A	ENSP00000262367.5:p.Val2039=
ENST00000382070.7:c.6003G>A	ENSP00000371502.3:p.Val2001=
NM_001079846.1:c.6003G>A	NP_001073315.1:p.Val2001=
NM_004380.2:c.6117G>A	NP_004371.2:p.Val2039=
XM_005255124.3:c.6072G>A	XP_005255181.1:p.Val2024=
XM_005255125.3:c.5700G>A	XP_005255182.1:p.Val1900=
XM_006720848.2:c.5856G>A	XP_006720911.1:p.Val1952=
XM_011522380.1:c.6063G>A	XP_011520682.1:p.Val2021=
XM_011522381.1:c.5364G>A	XP_011520683.1:p.Val1788=
XM_005255124.4:c.6072G>A	XP_005255181.1:p.Val2024=
XM_005255125.4:c.5700G>A	XP_005255182.1:p.Val1900=
XM_006720848.3:c.5856G>A	XP_006720911.1:p.Val1952=
XM_011522381.2:c.5364G>A	XP_011520683.1:p.Val1788=
XM_017022944.1:c.6111G>A	XP_016878433.1:p.Val2037=
NM_004380.3:c.6117G>A MANE Select	NP_004371.2:p.Val2039=