Canonical Allele Identifier: CA2202916451
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729568A= , CM000678.2:g.3729568A= GRCh38
NC_000016.9:g.3779569A= , CM000678.1:g.3779569A= GRCh37
NC_000016.8:g.3719570A= NCBI36
NG_009873.1:g.155553T=
NG_009873.2:g.156146T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5479T= MANE Select ENSP00000262367.5:p.Cys1827=
ENST00000262367.9:c.5479T= ENSP00000262367.5:p.Cys1827=
ENST00000382070.7:c.5365T= ENSP00000371502.3:p.Cys1789=
NM_001079846.1:c.5365T= NP_001073315.1:p.Cys1789=
NM_004380.2:c.5479T= NP_004371.2:p.Cys1827=
XM_005255124.3:c.5434T= XP_005255181.1:p.Cys1812=
XM_005255125.3:c.5062T= XP_005255182.1:p.Cys1688=
XM_006720848.2:c.5218T= XP_006720911.1:p.Cys1740=
XM_011522380.1:c.5425T= XP_011520682.1:p.Cys1809=
XM_011522381.1:c.4726T= XP_011520683.1:p.Cys1576=
XM_005255124.4:c.5434T= XP_005255181.1:p.Cys1812=
XM_005255125.4:c.5062T= XP_005255182.1:p.Cys1688=
XM_006720848.3:c.5218T= XP_006720911.1:p.Cys1740=
XM_011522381.2:c.4726T= XP_011520683.1:p.Cys1576=
XM_017022944.1:c.5473T= XP_016878433.1:p.Cys1825=
NM_004380.3:c.5479T= MANE Select NP_004371.2:p.Cys1827=