Canonical Allele Identifier: CA2202916145
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728978C= , CM000678.2:g.3728978C= GRCh38
NC_000016.9:g.3778979C= , CM000678.1:g.3778979C= GRCh37
NC_000016.8:g.3718980C= NCBI36
NG_009873.1:g.156143G=
NG_009873.2:g.156736G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6069G= MANE Select ENSP00000262367.5:p.Gln2023=
ENST00000262367.9:c.6069G= ENSP00000262367.5:p.Gln2023=
ENST00000382070.7:c.5955G= ENSP00000371502.3:p.Gln1985=
NM_001079846.1:c.5955G= NP_001073315.1:p.Gln1985=
NM_004380.2:c.6069G= NP_004371.2:p.Gln2023=
XM_005255124.3:c.6024G= XP_005255181.1:p.Gln2008=
XM_005255125.3:c.5652G= XP_005255182.1:p.Gln1884=
XM_006720848.2:c.5808G= XP_006720911.1:p.Gln1936=
XM_011522380.1:c.6015G= XP_011520682.1:p.Gln2005=
XM_011522381.1:c.5316G= XP_011520683.1:p.Gln1772=
XM_005255124.4:c.6024G= XP_005255181.1:p.Gln2008=
XM_005255125.4:c.5652G= XP_005255182.1:p.Gln1884=
XM_006720848.3:c.5808G= XP_006720911.1:p.Gln1936=
XM_011522381.2:c.5316G= XP_011520683.1:p.Gln1772=
XM_017022944.1:c.6063G= XP_016878433.1:p.Gln2021=
NM_004380.3:c.6069G= MANE Select NP_004371.2:p.Gln2023=