Canonical Allele Identifier: CA2202928469
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728075C= , CM000678.2:g.3728075C= GRCh38
NC_000016.9:g.3778076C= , CM000678.1:g.3778076C= GRCh37
NC_000016.8:g.3718077C= NCBI36
NG_009873.1:g.157046G=
NG_009873.2:g.157639G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6972G= MANE Select ENSP00000262367.5:p.Gln2324=
ENST00000262367.9:c.6972G= ENSP00000262367.5:p.Gln2324=
ENST00000382070.7:c.6858G= ENSP00000371502.3:p.Gln2286=
NM_001079846.1:c.6858G= NP_001073315.1:p.Gln2286=
NM_004380.2:c.6972G= NP_004371.2:p.Gln2324=
XM_005255124.3:c.6927G= XP_005255181.1:p.Gln2309=
XM_005255125.3:c.6555G= XP_005255182.1:p.Gln2185=
XM_006720848.2:c.6711G= XP_006720911.1:p.Gln2237=
XM_011522380.1:c.6918G= XP_011520682.1:p.Gln2306=
XM_011522381.1:c.6219G= XP_011520683.1:p.Gln2073=
XM_005255124.4:c.6927G= XP_005255181.1:p.Gln2309=
XM_005255125.4:c.6555G= XP_005255182.1:p.Gln2185=
XM_006720848.3:c.6711G= XP_006720911.1:p.Gln2237=
XM_011522381.2:c.6219G= XP_011520683.1:p.Gln2073=
XM_017022944.1:c.6966G= XP_016878433.1:p.Gln2322=
NM_004380.3:c.6972G= MANE Select NP_004371.2:p.Gln2324=