Canonical Allele Identifier: CA2202971809
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3810596A= , CM000678.2:g.3810596A= GRCh38
NC_000016.9:g.3860597A= , CM000678.1:g.3860597A= GRCh37
NC_000016.8:g.3800598A= NCBI36
NG_009873.1:g.74525T=
NG_009873.2:g.75118T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.975+7T= MANE Select ENSP00000262367.5:n.975+7T=
ENST00000262367.9:c.975+7T= ENSP00000262367.5:n.975+7T=
ENST00000382070.7:c.975+7T= ENSP00000371502.3:n.975+7T=
NM_001079846.1:c.975+7T= NP_001073315.1:n.975+7T=
NM_004380.2:c.975+7T= NP_004371.2:n.975+7T=
XM_005255124.3:c.975+7T= XP_005255181.1:n.975+7T=
XM_005255125.3:c.975+7T= XP_005255182.1:n.975+7T=
XM_006720848.2:c.975+7T= XP_006720911.1:n.975+7T=
XM_011522380.1:c.921+7T= XP_011520682.1:n.921+7T=
XM_011522381.1:c.222+7T= XP_011520683.1:n.222+7T=
XM_011522382.1:c.975+7T= XP_011520684.1:n.975+7T=
XM_005255124.4:c.975+7T= XP_005255181.1:n.975+7T=
XM_005255125.4:c.975+7T= XP_005255182.1:n.975+7T=
XM_006720848.3:c.975+7T= XP_006720911.1:n.975+7T=
XM_011522381.2:c.222+7T= XP_011520683.1:n.222+7T=
XM_011522382.3:c.975+7T= XP_011520684.1:n.975+7T=
XM_017022944.1:c.975+7T= XP_016878433.1:n.975+7T=
NM_004380.3:c.975+7T= MANE Select NP_004371.2:n.975+7T=