Canonical Allele Identifier: CA394553666

Gene: CREBBP

Linked Data

• dbSNP Id: rs1489860615
• MyVariant Identifiers: chr16:g.3778738G>T (hg19) ; chr16:g.3728737G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728737G>T , CM000678.2:g.3728737G>T	GRCh38
NC_000016.9:g.3778738G>T , CM000678.1:g.3778738G>T	GRCh37
NC_000016.8:g.3718739G>T	NCBI36
NG_009873.1:g.156384C>A
NG_009873.2:g.156977C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6310C>A MANE Select	ENSP00000262367.5:p.Arg2104Ser
ENST00000262367.9:c.6310C>A	ENSP00000262367.5:p.Arg2104Ser
ENST00000382070.7:c.6196C>A	ENSP00000371502.3:p.Arg2066Ser
NM_001079846.1:c.6196C>A	NP_001073315.1:p.Arg2066Ser
NM_004380.2:c.6310C>A	NP_004371.2:p.Arg2104Ser
XM_005255124.3:c.6265C>A	XP_005255181.1:p.Arg2089Ser
XM_005255125.3:c.5893C>A	XP_005255182.1:p.Arg1965Ser
XM_006720848.2:c.6049C>A	XP_006720911.1:p.Arg2017Ser
XM_011522380.1:c.6256C>A	XP_011520682.1:p.Arg2086Ser
XM_011522381.1:c.5557C>A	XP_011520683.1:p.Arg1853Ser
XM_005255124.4:c.6265C>A	XP_005255181.1:p.Arg2089Ser
XM_005255125.4:c.5893C>A	XP_005255182.1:p.Arg1965Ser
XM_006720848.3:c.6049C>A	XP_006720911.1:p.Arg2017Ser
XM_011522381.2:c.5557C>A	XP_011520683.1:p.Arg1853Ser
XM_017022944.1:c.6304C>A	XP_016878433.1:p.Arg2102Ser
NM_004380.3:c.6310C>A MANE Select	NP_004371.2:p.Arg2104Ser