Canonical Allele Identifier: CA2202916485
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729677G= , CM000678.2:g.3729677G= GRCh38
NC_000016.9:g.3779678G= , CM000678.1:g.3779678G= GRCh37
NC_000016.8:g.3719679G= NCBI36
NG_009873.1:g.155444C=
NG_009873.2:g.156037C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5370C= MANE Select ENSP00000262367.5:p.Cys1790=
ENST00000262367.9:c.5370C= ENSP00000262367.5:p.Cys1790=
ENST00000382070.7:c.5256C= ENSP00000371502.3:p.Cys1752=
NM_001079846.1:c.5256C= NP_001073315.1:p.Cys1752=
NM_004380.2:c.5370C= NP_004371.2:p.Cys1790=
XM_005255124.3:c.5325C= XP_005255181.1:p.Cys1775=
XM_005255125.3:c.4953C= XP_005255182.1:p.Cys1651=
XM_006720848.2:c.5109C= XP_006720911.1:p.Cys1703=
XM_011522380.1:c.5316C= XP_011520682.1:p.Cys1772=
XM_011522381.1:c.4617C= XP_011520683.1:p.Cys1539=
XM_005255124.4:c.5325C= XP_005255181.1:p.Cys1775=
XM_005255125.4:c.4953C= XP_005255182.1:p.Cys1651=
XM_006720848.3:c.5109C= XP_006720911.1:p.Cys1703=
XM_011522381.2:c.4617C= XP_011520683.1:p.Cys1539=
XM_017022944.1:c.5364C= XP_016878433.1:p.Cys1788=
NM_004380.3:c.5370C= MANE Select NP_004371.2:p.Cys1790=