Canonical Allele Identifier: CA2202928418
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3727949C= , CM000678.2:g.3727949C= GRCh38
NC_000016.9:g.3777950C= , CM000678.1:g.3777950C= GRCh37
NC_000016.8:g.3717951C= NCBI36
NG_009873.1:g.157172G=
NG_009873.2:g.157765G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.7098G= MANE Select ENSP00000262367.5:p.Arg2366=
ENST00000262367.9:c.7098G= ENSP00000262367.5:p.Arg2366=
ENST00000382070.7:c.6984G= ENSP00000371502.3:p.Arg2328=
NM_001079846.1:c.6984G= NP_001073315.1:p.Arg2328=
NM_004380.2:c.7098G= NP_004371.2:p.Arg2366=
XM_005255124.3:c.7053G= XP_005255181.1:p.Arg2351=
XM_005255125.3:c.6681G= XP_005255182.1:p.Arg2227=
XM_006720848.2:c.6837G= XP_006720911.1:p.Arg2279=
XM_011522380.1:c.7044G= XP_011520682.1:p.Arg2348=
XM_011522381.1:c.6345G= XP_011520683.1:p.Arg2115=
XM_005255124.4:c.7053G= XP_005255181.1:p.Arg2351=
XM_005255125.4:c.6681G= XP_005255182.1:p.Arg2227=
XM_006720848.3:c.6837G= XP_006720911.1:p.Arg2279=
XM_011522381.2:c.6345G= XP_011520683.1:p.Arg2115=
XM_017022944.1:c.7092G= XP_016878433.1:p.Arg2364=
NM_004380.3:c.7098G= MANE Select NP_004371.2:p.Arg2366=