Canonical Allele Identifier: CA394554550

Gene: CREBBP

Linked Data

• dbSNP Id: rs1367320646
• gnomAD v4: 16-3729022-T-A
• MyVariant Identifiers: chr16:g.3779023T>A (hg19) ; chr16:g.3729022T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729022T>A , CM000678.2:g.3729022T>A	GRCh38
NC_000016.9:g.3779023T>A , CM000678.1:g.3779023T>A	GRCh37
NC_000016.8:g.3719024T>A	NCBI36
NG_009873.1:g.156099A>T
NG_009873.2:g.156692A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6025A>T MANE Select	ENSP00000262367.5:p.Ser2009Cys
ENST00000262367.9:c.6025A>T	ENSP00000262367.5:p.Ser2009Cys
ENST00000382070.7:c.5911A>T	ENSP00000371502.3:p.Ser1971Cys
NM_001079846.1:c.5911A>T	NP_001073315.1:p.Ser1971Cys
NM_004380.2:c.6025A>T	NP_004371.2:p.Ser2009Cys
XM_005255124.3:c.5980A>T	XP_005255181.1:p.Ser1994Cys
XM_005255125.3:c.5608A>T	XP_005255182.1:p.Ser1870Cys
XM_006720848.2:c.5764A>T	XP_006720911.1:p.Ser1922Cys
XM_011522380.1:c.5971A>T	XP_011520682.1:p.Ser1991Cys
XM_011522381.1:c.5272A>T	XP_011520683.1:p.Ser1758Cys
XM_005255124.4:c.5980A>T	XP_005255181.1:p.Ser1994Cys
XM_005255125.4:c.5608A>T	XP_005255182.1:p.Ser1870Cys
XM_006720848.3:c.5764A>T	XP_006720911.1:p.Ser1922Cys
XM_011522381.2:c.5272A>T	XP_011520683.1:p.Ser1758Cys
XM_017022944.1:c.6019A>T	XP_016878433.1:p.Ser2007Cys
NM_004380.3:c.6025A>T MANE Select	NP_004371.2:p.Ser2009Cys