Canonical Allele Identifier: CA2202916491
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729690C= , CM000678.2:g.3729690C= GRCh38
NC_000016.9:g.3779691C= , CM000678.1:g.3779691C= GRCh37
NC_000016.8:g.3719692C= NCBI36
NG_009873.1:g.155431G=
NG_009873.2:g.156024G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5357G= MANE Select ENSP00000262367.5:p.Arg1786=
ENST00000262367.9:c.5357G= ENSP00000262367.5:p.Arg1786=
ENST00000382070.7:c.5243G= ENSP00000371502.3:p.Arg1748=
NM_001079846.1:c.5243G= NP_001073315.1:p.Arg1748=
NM_004380.2:c.5357G= NP_004371.2:p.Arg1786=
XM_005255124.3:c.5312G= XP_005255181.1:p.Arg1771=
XM_005255125.3:c.4940G= XP_005255182.1:p.Arg1647=
XM_006720848.2:c.5096G= XP_006720911.1:p.Arg1699=
XM_011522380.1:c.5303G= XP_011520682.1:p.Arg1768=
XM_011522381.1:c.4604G= XP_011520683.1:p.Arg1535=
XM_005255124.4:c.5312G= XP_005255181.1:p.Arg1771=
XM_005255125.4:c.4940G= XP_005255182.1:p.Arg1647=
XM_006720848.3:c.5096G= XP_006720911.1:p.Arg1699=
XM_011522381.2:c.4604G= XP_011520683.1:p.Arg1535=
XM_017022944.1:c.5351G= XP_016878433.1:p.Arg1784=
NM_004380.3:c.5357G= MANE Select NP_004371.2:p.Arg1786=