Canonical Allele Identifier: CA2202958670
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3778033C= , CM000678.2:g.3778033C= GRCh38
NC_000016.9:g.3828034C= , CM000678.1:g.3828034C= GRCh37
NC_000016.8:g.3768035C= NCBI36
NG_009873.1:g.107088G=
NG_009873.2:g.107681G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.2091G= MANE Select ENSP00000262367.5:p.Gln697=
ENST00000262367.9:c.2091G= ENSP00000262367.5:p.Gln697=
ENST00000382070.7:c.1977G= ENSP00000371502.3:p.Gln659=
ENST00000570939.2:c.696G= ENSP00000461002.2:p.Gln232=
ENST00000571826.5:c.140G=
ENST00000572134.1:c.404G=
ENST00000634839.1:n.253G=
NM_001079846.1:c.1977G= NP_001073315.1:p.Gln659=
NM_004380.2:c.2091G= NP_004371.2:p.Gln697=
XM_005255124.3:c.2091G= XP_005255181.1:p.Gln697=
XM_005255125.3:c.2091G= XP_005255182.1:p.Gln697=
XM_006720848.2:c.2091G= XP_006720911.1:p.Gln697=
XM_011522380.1:c.2037G= XP_011520682.1:p.Gln679=
XM_011522381.1:c.1338G= XP_011520683.1:p.Gln446=
XM_011522382.1:c.2091G= XP_011520684.1:p.Gln697=
XM_005255124.4:c.2091G= XP_005255181.1:p.Gln697=
XM_005255125.4:c.2091G= XP_005255182.1:p.Gln697=
XM_006720848.3:c.2091G= XP_006720911.1:p.Gln697=
XM_011522381.2:c.1338G= XP_011520683.1:p.Gln446=
XM_011522382.3:c.2091G= XP_011520684.1:p.Gln697=
XM_017022944.1:c.2091G= XP_016878433.1:p.Gln697=
NM_004380.3:c.2091G= MANE Select NP_004371.2:p.Gln697=