Canonical Allele Identifier: CA493393260

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151298830
• MyVariant Identifiers: chr16:g.3777881G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727880G>T , CM000678.2:g.3727880G>T	GRCh38
NC_000016.9:g.3777881G>T , CM000678.1:g.3777881G>T	GRCh37
NC_000016.8:g.3717882G>T	NCBI36
NG_009873.1:g.157241C>A
NG_009873.2:g.157834C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7167C>A MANE Select	ENSP00000262367.5:p.Val2389=
ENST00000262367.9:c.7167C>A	ENSP00000262367.5:p.Val2389=
ENST00000382070.7:c.7053C>A	ENSP00000371502.3:p.Val2351=
NM_001079846.1:c.7053C>A	NP_001073315.1:p.Val2351=
NM_004380.2:c.7167C>A	NP_004371.2:p.Val2389=
XM_005255124.3:c.7122C>A	XP_005255181.1:p.Val2374=
XM_005255125.3:c.6750C>A	XP_005255182.1:p.Val2250=
XM_006720848.2:c.6906C>A	XP_006720911.1:p.Val2302=
XM_011522380.1:c.7113C>A	XP_011520682.1:p.Val2371=
XM_011522381.1:c.6414C>A	XP_011520683.1:p.Val2138=
XM_005255124.4:c.7122C>A	XP_005255181.1:p.Val2374=
XM_005255125.4:c.6750C>A	XP_005255182.1:p.Val2250=
XM_006720848.3:c.6906C>A	XP_006720911.1:p.Val2302=
XM_011522381.2:c.6414C>A	XP_011520683.1:p.Val2138=
XM_017022944.1:c.7161C>A	XP_016878433.1:p.Val2387=
NM_004380.3:c.7167C>A MANE Select	NP_004371.2:p.Val2389=