Canonical Allele Identifier: CA2202916425
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729486T= , CM000678.2:g.3729486T= GRCh38
NC_000016.9:g.3779487T= , CM000678.1:g.3779487T= GRCh37
NC_000016.8:g.3719488T= NCBI36
NG_009873.1:g.155635A=
NG_009873.2:g.156228A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5561A= MANE Select ENSP00000262367.5:p.Gln1854=
ENST00000262367.9:c.5561A= ENSP00000262367.5:p.Gln1854=
ENST00000382070.7:c.5447A= ENSP00000371502.3:p.Gln1816=
NM_001079846.1:c.5447A= NP_001073315.1:p.Gln1816=
NM_004380.2:c.5561A= NP_004371.2:p.Gln1854=
XM_005255124.3:c.5516A= XP_005255181.1:p.Gln1839=
XM_005255125.3:c.5144A= XP_005255182.1:p.Gln1715=
XM_006720848.2:c.5300A= XP_006720911.1:p.Gln1767=
XM_011522380.1:c.5507A= XP_011520682.1:p.Gln1836=
XM_011522381.1:c.4808A= XP_011520683.1:p.Gln1603=
XM_005255124.4:c.5516A= XP_005255181.1:p.Gln1839=
XM_005255125.4:c.5144A= XP_005255182.1:p.Gln1715=
XM_006720848.3:c.5300A= XP_006720911.1:p.Gln1767=
XM_011522381.2:c.4808A= XP_011520683.1:p.Gln1603=
XM_017022944.1:c.5555A= XP_016878433.1:p.Gln1852=
NM_004380.3:c.5561A= MANE Select NP_004371.2:p.Gln1854=