Canonical Allele Identifier: CA2202928447
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728023G= , CM000678.2:g.3728023G= GRCh38
NC_000016.9:g.3778024G= , CM000678.1:g.3778024G= GRCh37
NC_000016.8:g.3718025G= NCBI36
NG_009873.1:g.157098C=
NG_009873.2:g.157691C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.7024C= MANE Select ENSP00000262367.5:p.Gln2342=
ENST00000262367.9:c.7024C= ENSP00000262367.5:p.Gln2342=
ENST00000382070.7:c.6910C= ENSP00000371502.3:p.Gln2304=
NM_001079846.1:c.6910C= NP_001073315.1:p.Gln2304=
NM_004380.2:c.7024C= NP_004371.2:p.Gln2342=
XM_005255124.3:c.6979C= XP_005255181.1:p.Gln2327=
XM_005255125.3:c.6607C= XP_005255182.1:p.Gln2203=
XM_006720848.2:c.6763C= XP_006720911.1:p.Gln2255=
XM_011522380.1:c.6970C= XP_011520682.1:p.Gln2324=
XM_011522381.1:c.6271C= XP_011520683.1:p.Gln2091=
XM_005255124.4:c.6979C= XP_005255181.1:p.Gln2327=
XM_005255125.4:c.6607C= XP_005255182.1:p.Gln2203=
XM_006720848.3:c.6763C= XP_006720911.1:p.Gln2255=
XM_011522381.2:c.6271C= XP_011520683.1:p.Gln2091=
XM_017022944.1:c.7018C= XP_016878433.1:p.Gln2340=
NM_004380.3:c.7024C= MANE Select NP_004371.2:p.Gln2342=