Canonical Allele Identifier: CA2202916135
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728959G= , CM000678.2:g.3728959G= GRCh38
NC_000016.9:g.3778960G= , CM000678.1:g.3778960G= GRCh37
NC_000016.8:g.3718961G= NCBI36
NG_009873.1:g.156162C=
NG_009873.2:g.156755C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6088C= MANE Select ENSP00000262367.5:p.Gln2030=
ENST00000262367.9:c.6088C= ENSP00000262367.5:p.Gln2030=
ENST00000382070.7:c.5974C= ENSP00000371502.3:p.Gln1992=
NM_001079846.1:c.5974C= NP_001073315.1:p.Gln1992=
NM_004380.2:c.6088C= NP_004371.2:p.Gln2030=
XM_005255124.3:c.6043C= XP_005255181.1:p.Gln2015=
XM_005255125.3:c.5671C= XP_005255182.1:p.Gln1891=
XM_006720848.2:c.5827C= XP_006720911.1:p.Gln1943=
XM_011522380.1:c.6034C= XP_011520682.1:p.Gln2012=
XM_011522381.1:c.5335C= XP_011520683.1:p.Gln1779=
XM_005255124.4:c.6043C= XP_005255181.1:p.Gln2015=
XM_005255125.4:c.5671C= XP_005255182.1:p.Gln1891=
XM_006720848.3:c.5827C= XP_006720911.1:p.Gln1943=
XM_011522381.2:c.5335C= XP_011520683.1:p.Gln1779=
XM_017022944.1:c.6082C= XP_016878433.1:p.Gln2028=
NM_004380.3:c.6088C= MANE Select NP_004371.2:p.Gln2030=