Canonical Allele Identifier: CA7869166

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 589518
• ClinVar RCV Id: RCV000889417 ; RCV002533039 ; RCV002316748 ; RCV003938083
• dbSNP Id: rs368704484
• ExAC: 16:3778883 G / A
• gnomAD v2: 16-3778883-G-A
• gnomAD v3: 16-3728882-G-A
• gnomAD v4: 16-3728882-G-A
• MyVariant Identifiers: chr16:g.3778883G>A (hg19) ; chr16:g.3728882G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728882G>A , CM000678.2:g.3728882G>A	GRCh38
NC_000016.9:g.3778883G>A , CM000678.1:g.3778883G>A	GRCh37
NC_000016.8:g.3718884G>A	NCBI36
NG_009873.1:g.156239C>T
NG_009873.2:g.156832C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6165C>T MANE Select	ENSP00000262367.5:p.Ser2055=
ENST00000262367.9:c.6165C>T	ENSP00000262367.5:p.Ser2055=
ENST00000382070.7:c.6051C>T	ENSP00000371502.3:p.Ser2017=
NM_001079846.1:c.6051C>T	NP_001073315.1:p.Ser2017=
NM_004380.2:c.6165C>T	NP_004371.2:p.Ser2055=
XM_005255124.3:c.6120C>T	XP_005255181.1:p.Ser2040=
XM_005255125.3:c.5748C>T	XP_005255182.1:p.Ser1916=
XM_006720848.2:c.5904C>T	XP_006720911.1:p.Ser1968=
XM_011522380.1:c.6111C>T	XP_011520682.1:p.Ser2037=
XM_011522381.1:c.5412C>T	XP_011520683.1:p.Ser1804=
XM_005255124.4:c.6120C>T	XP_005255181.1:p.Ser2040=
XM_005255125.4:c.5748C>T	XP_005255182.1:p.Ser1916=
XM_006720848.3:c.5904C>T	XP_006720911.1:p.Ser1968=
XM_011522381.2:c.5412C>T	XP_011520683.1:p.Ser1804=
XM_017022944.1:c.6159C>T	XP_016878433.1:p.Ser2053=
NM_004380.3:c.6165C>T MANE Select	NP_004371.2:p.Ser2055=