Canonical Allele Identifier: CA2202916175
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729036C= , CM000678.2:g.3729036C= GRCh38
NC_000016.9:g.3779037C= , CM000678.1:g.3779037C= GRCh37
NC_000016.8:g.3719038C= NCBI36
NG_009873.1:g.156085G=
NG_009873.2:g.156678G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6011G= MANE Select ENSP00000262367.5:p.Arg2004=
ENST00000262367.9:c.6011G= ENSP00000262367.5:p.Arg2004=
ENST00000382070.7:c.5897G= ENSP00000371502.3:p.Arg1966=
NM_001079846.1:c.5897G= NP_001073315.1:p.Arg1966=
NM_004380.2:c.6011G= NP_004371.2:p.Arg2004=
XM_005255124.3:c.5966G= XP_005255181.1:p.Arg1989=
XM_005255125.3:c.5594G= XP_005255182.1:p.Arg1865=
XM_006720848.2:c.5750G= XP_006720911.1:p.Arg1917=
XM_011522380.1:c.5957G= XP_011520682.1:p.Arg1986=
XM_011522381.1:c.5258G= XP_011520683.1:p.Arg1753=
XM_005255124.4:c.5966G= XP_005255181.1:p.Arg1989=
XM_005255125.4:c.5594G= XP_005255182.1:p.Arg1865=
XM_006720848.3:c.5750G= XP_006720911.1:p.Arg1917=
XM_011522381.2:c.5258G= XP_011520683.1:p.Arg1753=
XM_017022944.1:c.6005G= XP_016878433.1:p.Arg2002=
NM_004380.3:c.6011G= MANE Select NP_004371.2:p.Arg2004=