Canonical Allele Identifier: CA394553667

Gene: CREBBP

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.6310C>T MANE Select	NP_004371.2:p.Arg2104Cys
ENST00000262367.10:c.6310C>T MANE Select	ENSP00000262367.5:p.Arg2104Cys
NM_001079846.1:c.6196C>T	NP_001073315.1:p.Arg2066Cys
NM_004380.2:c.6310C>T	NP_004371.2:p.Arg2104Cys
ENST00000262367.9:c.6310C>T	ENSP00000262367.5:p.Arg2104Cys
ENST00000382070.7:c.6196C>T	ENSP00000371502.3:p.Arg2066Cys
XM_005255124.3:c.6265C>T	XP_005255181.1:p.Arg2089Cys
XM_005255124.4:c.6265C>T	XP_005255181.1:p.Arg2089Cys
XM_005255125.3:c.5893C>T	XP_005255182.1:p.Arg1965Cys
XM_005255125.4:c.5893C>T	XP_005255182.1:p.Arg1965Cys
XM_006720848.2:c.6049C>T	XP_006720911.1:p.Arg2017Cys
XM_006720848.3:c.6049C>T	XP_006720911.1:p.Arg2017Cys
XM_011522380.1:c.6256C>T	XP_011520682.1:p.Arg2086Cys
XM_011522381.1:c.5557C>T	XP_011520683.1:p.Arg1853Cys
XM_011522381.2:c.5557C>T	XP_011520683.1:p.Arg1853Cys
XM_017022944.1:c.6304C>T	XP_016878433.1:p.Arg2102Cys