Canonical Allele Identifier: CA2202916111
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728909C= , CM000678.2:g.3728909C= GRCh38
NC_000016.9:g.3778910C= , CM000678.1:g.3778910C= GRCh37
NC_000016.8:g.3718911C= NCBI36
NG_009873.1:g.156212G=
NG_009873.2:g.156805G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6138G= MANE Select ENSP00000262367.5:p.Ala2046=
ENST00000262367.9:c.6138G= ENSP00000262367.5:p.Ala2046=
ENST00000382070.7:c.6024G= ENSP00000371502.3:p.Ala2008=
NM_001079846.1:c.6024G= NP_001073315.1:p.Ala2008=
NM_004380.2:c.6138G= NP_004371.2:p.Ala2046=
XM_005255124.3:c.6093G= XP_005255181.1:p.Ala2031=
XM_005255125.3:c.5721G= XP_005255182.1:p.Ala1907=
XM_006720848.2:c.5877G= XP_006720911.1:p.Ala1959=
XM_011522380.1:c.6084G= XP_011520682.1:p.Ala2028=
XM_011522381.1:c.5385G= XP_011520683.1:p.Ala1795=
XM_005255124.4:c.6093G= XP_005255181.1:p.Ala2031=
XM_005255125.4:c.5721G= XP_005255182.1:p.Ala1907=
XM_006720848.3:c.5877G= XP_006720911.1:p.Ala1959=
XM_011522381.2:c.5385G= XP_011520683.1:p.Ala1795=
XM_017022944.1:c.6132G= XP_016878433.1:p.Ala2044=
NM_004380.3:c.6138G= MANE Select NP_004371.2:p.Ala2046=