Canonical Allele Identifier: CA2202928856
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728803G= , CM000678.2:g.3728803G= GRCh38
NC_000016.9:g.3778804G= , CM000678.1:g.3778804G= GRCh37
NC_000016.8:g.3718805G= NCBI36
NG_009873.1:g.156318C=
NG_009873.2:g.156911C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6244C= MANE Select ENSP00000262367.5:p.Gln2082=
ENST00000262367.9:c.6244C= ENSP00000262367.5:p.Gln2082=
ENST00000382070.7:c.6130C= ENSP00000371502.3:p.Gln2044=
NM_001079846.1:c.6130C= NP_001073315.1:p.Gln2044=
NM_004380.2:c.6244C= NP_004371.2:p.Gln2082=
XM_005255124.3:c.6199C= XP_005255181.1:p.Gln2067=
XM_005255125.3:c.5827C= XP_005255182.1:p.Gln1943=
XM_006720848.2:c.5983C= XP_006720911.1:p.Gln1995=
XM_011522380.1:c.6190C= XP_011520682.1:p.Gln2064=
XM_011522381.1:c.5491C= XP_011520683.1:p.Gln1831=
XM_005255124.4:c.6199C= XP_005255181.1:p.Gln2067=
XM_005255125.4:c.5827C= XP_005255182.1:p.Gln1943=
XM_006720848.3:c.5983C= XP_006720911.1:p.Gln1995=
XM_011522381.2:c.5491C= XP_011520683.1:p.Gln1831=
XM_017022944.1:c.6238C= XP_016878433.1:p.Gln2080=
NM_004380.3:c.6244C= MANE Select NP_004371.2:p.Gln2082=