Canonical Allele Identifier: CA2202928313
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3727729C= , CM000678.2:g.3727729C= GRCh38
NC_000016.9:g.3777730C= , CM000678.1:g.3777730C= GRCh37
NC_000016.8:g.3717731C= NCBI36
NG_009873.1:g.157392G=
NG_009873.2:g.157985G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.7318G= MANE Select ENSP00000262367.5:p.Glu2440=
ENST00000262367.9:c.7318G= ENSP00000262367.5:p.Glu2440=
ENST00000382070.7:c.7204G= ENSP00000371502.3:p.Glu2402=
NM_001079846.1:c.7204G= NP_001073315.1:p.Glu2402=
NM_004380.2:c.7318G= NP_004371.2:p.Glu2440=
XM_005255124.3:c.7273G= XP_005255181.1:p.Glu2425=
XM_005255125.3:c.6901G= XP_005255182.1:p.Glu2301=
XM_006720848.2:c.7057G= XP_006720911.1:p.Glu2353=
XM_011522380.1:c.7264G= XP_011520682.1:p.Glu2422=
XM_011522381.1:c.6565G= XP_011520683.1:p.Glu2189=
XM_005255124.4:c.7273G= XP_005255181.1:p.Glu2425=
XM_005255125.4:c.6901G= XP_005255182.1:p.Glu2301=
XM_006720848.3:c.7057G= XP_006720911.1:p.Glu2353=
XM_011522381.2:c.6565G= XP_011520683.1:p.Glu2189=
XM_017022944.1:c.7312G= XP_016878433.1:p.Glu2438=
NM_004380.3:c.7318G= MANE Select NP_004371.2:p.Glu2440=