Canonical Allele Identifier: CA2202939781
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3739581G= , CM000678.2:g.3739581G= GRCh38
NC_000016.9:g.3789582G= , CM000678.1:g.3789582G= GRCh37
NC_000016.8:g.3729583G= NCBI36
NG_009873.1:g.145540C=
NG_009873.2:g.146133C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.4277C= MANE Select ENSP00000262367.5:p.Thr1426=
ENST00000262367.9:c.4277C= ENSP00000262367.5:p.Thr1426=
ENST00000382070.7:c.4163C= ENSP00000371502.3:p.Thr1388=
ENST00000570939.2:c.2912C= ENSP00000461002.2:p.Thr971=
ENST00000573517.6:c.583C=
ENST00000574740.1:n.215+818C=
ENST00000576720.1:n.3214C=
NM_001079846.1:c.4163C= NP_001073315.1:p.Thr1388=
NM_004380.2:c.4277C= NP_004371.2:p.Thr1426=
XM_005255124.3:c.4232C= XP_005255181.1:p.Thr1411=
XM_005255125.3:c.3860C= XP_005255182.1:p.Thr1287=
XM_006720848.2:c.4133+818C= XP_006720911.1:n.4133+818C=
XM_011522380.1:c.4223C= XP_011520682.1:p.Thr1408=
XM_011522381.1:c.3524C= XP_011520683.1:p.Thr1175=
XM_005255124.4:c.4232C= XP_005255181.1:p.Thr1411=
XM_005255125.4:c.3860C= XP_005255182.1:p.Thr1287=
XM_006720848.3:c.4133+818C= XP_006720911.1:n.4133+818C=
XM_011522381.2:c.3524C= XP_011520683.1:p.Thr1175=
XM_017022944.1:c.4271C= XP_016878433.1:p.Thr1424=
NM_004380.3:c.4277C= MANE Select NP_004371.2:p.Thr1426=