Canonical Allele Identifier: CA2202928857
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728806G= , CM000678.2:g.3728806G= GRCh38
NC_000016.9:g.3778807G= , CM000678.1:g.3778807G= GRCh37
NC_000016.8:g.3718808G= NCBI36
NG_009873.1:g.156315C=
NG_009873.2:g.156908C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6241C= MANE Select ENSP00000262367.5:p.Gln2081=
ENST00000262367.9:c.6241C= ENSP00000262367.5:p.Gln2081=
ENST00000382070.7:c.6127C= ENSP00000371502.3:p.Gln2043=
NM_001079846.1:c.6127C= NP_001073315.1:p.Gln2043=
NM_004380.2:c.6241C= NP_004371.2:p.Gln2081=
XM_005255124.3:c.6196C= XP_005255181.1:p.Gln2066=
XM_005255125.3:c.5824C= XP_005255182.1:p.Gln1942=
XM_006720848.2:c.5980C= XP_006720911.1:p.Gln1994=
XM_011522380.1:c.6187C= XP_011520682.1:p.Gln2063=
XM_011522381.1:c.5488C= XP_011520683.1:p.Gln1830=
XM_005255124.4:c.6196C= XP_005255181.1:p.Gln2066=
XM_005255125.4:c.5824C= XP_005255182.1:p.Gln1942=
XM_006720848.3:c.5980C= XP_006720911.1:p.Gln1994=
XM_011522381.2:c.5488C= XP_011520683.1:p.Gln1830=
XM_017022944.1:c.6235C= XP_016878433.1:p.Gln2079=
NM_004380.3:c.6241C= MANE Select NP_004371.2:p.Gln2081=