Canonical Allele Identifier: CA2202916419
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729474C= , CM000678.2:g.3729474C= GRCh38
NC_000016.9:g.3779475C= , CM000678.1:g.3779475C= GRCh37
NC_000016.8:g.3719476C= NCBI36
NG_009873.1:g.155647G=
NG_009873.2:g.156240G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5573G= MANE Select ENSP00000262367.5:p.Arg1858=
ENST00000262367.9:c.5573G= ENSP00000262367.5:p.Arg1858=
ENST00000382070.7:c.5459G= ENSP00000371502.3:p.Arg1820=
NM_001079846.1:c.5459G= NP_001073315.1:p.Arg1820=
NM_004380.2:c.5573G= NP_004371.2:p.Arg1858=
XM_005255124.3:c.5528G= XP_005255181.1:p.Arg1843=
XM_005255125.3:c.5156G= XP_005255182.1:p.Arg1719=
XM_006720848.2:c.5312G= XP_006720911.1:p.Arg1771=
XM_011522380.1:c.5519G= XP_011520682.1:p.Arg1840=
XM_011522381.1:c.4820G= XP_011520683.1:p.Arg1607=
XM_005255124.4:c.5528G= XP_005255181.1:p.Arg1843=
XM_005255125.4:c.5156G= XP_005255182.1:p.Arg1719=
XM_006720848.3:c.5312G= XP_006720911.1:p.Arg1771=
XM_011522381.2:c.4820G= XP_011520683.1:p.Arg1607=
XM_017022944.1:c.5567G= XP_016878433.1:p.Arg1856=
NM_004380.3:c.5573G= MANE Select NP_004371.2:p.Arg1858=