Canonical Allele Identifier: CA394553839

Gene: CREBBP

Linked Data

• dbSNP Id: rs752241593
• MyVariant Identifiers: chr16:g.3778814G>T (hg19) ; chr16:g.3728813G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728813G>T , CM000678.2:g.3728813G>T	GRCh38
NC_000016.9:g.3778814G>T , CM000678.1:g.3778814G>T	GRCh37
NC_000016.8:g.3718815G>T	NCBI36
NG_009873.1:g.156308C>A
NG_009873.2:g.156901C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6234C>A MANE Select	ENSP00000262367.5:p.Ser2078Arg
ENST00000262367.9:c.6234C>A	ENSP00000262367.5:p.Ser2078Arg
ENST00000382070.7:c.6120C>A	ENSP00000371502.3:p.Ser2040Arg
NM_001079846.1:c.6120C>A	NP_001073315.1:p.Ser2040Arg
NM_004380.2:c.6234C>A	NP_004371.2:p.Ser2078Arg
XM_005255124.3:c.6189C>A	XP_005255181.1:p.Ser2063Arg
XM_005255125.3:c.5817C>A	XP_005255182.1:p.Ser1939Arg
XM_006720848.2:c.5973C>A	XP_006720911.1:p.Ser1991Arg
XM_011522380.1:c.6180C>A	XP_011520682.1:p.Ser2060Arg
XM_011522381.1:c.5481C>A	XP_011520683.1:p.Ser1827Arg
XM_005255124.4:c.6189C>A	XP_005255181.1:p.Ser2063Arg
XM_005255125.4:c.5817C>A	XP_005255182.1:p.Ser1939Arg
XM_006720848.3:c.5973C>A	XP_006720911.1:p.Ser1991Arg
XM_011522381.2:c.5481C>A	XP_011520683.1:p.Ser1827Arg
XM_017022944.1:c.6228C>A	XP_016878433.1:p.Ser2076Arg
NM_004380.3:c.6234C>A MANE Select	NP_004371.2:p.Ser2078Arg