Canonical Allele Identifier: CA2202958074
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3777557A= , CM000678.2:g.3777557A= GRCh38
NC_000016.9:g.3827558A= , CM000678.1:g.3827558A= GRCh37
NC_000016.8:g.3767559A= NCBI36
NG_009873.1:g.107564T=
NG_009873.2:g.108157T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.2158+56T= MANE Select ENSP00000262367.5:n.2158+56T=
ENST00000262367.9:c.2158+56T= ENSP00000262367.5:n.2158+56T=
ENST00000382070.7:c.2044+56T= ENSP00000371502.3:n.2044+56T=
ENST00000570939.2:c.763+56T= ENSP00000461002.2:n.763+56T=
ENST00000571826.5:c.207+56T=
ENST00000572134.1:c.426+454T=
NM_001079846.1:c.2044+56T= NP_001073315.1:n.2044+56T=
NM_004380.2:c.2158+56T= NP_004371.2:n.2158+56T=
XM_005255124.3:c.2113+454T= XP_005255181.1:n.2113+454T=
XM_005255125.3:c.2158+56T= XP_005255182.1:n.2158+56T=
XM_006720848.2:c.2158+56T= XP_006720911.1:n.2158+56T=
XM_011522380.1:c.2104+56T= XP_011520682.1:n.2104+56T=
XM_011522381.1:c.1405+56T= XP_011520683.1:n.1405+56T=
XM_011522382.1:c.2158+56T= XP_011520684.1:n.2158+56T=
XM_005255124.4:c.2113+454T= XP_005255181.1:n.2113+454T=
XM_005255125.4:c.2158+56T= XP_005255182.1:n.2158+56T=
XM_006720848.3:c.2158+56T= XP_006720911.1:n.2158+56T=
XM_011522381.2:c.1405+56T= XP_011520683.1:n.1405+56T=
XM_011522382.3:c.2158+56T= XP_011520684.1:n.2158+56T=
XM_017022944.1:c.2158+56T= XP_016878433.1:n.2158+56T=
NM_004380.3:c.2158+56T= MANE Select NP_004371.2:n.2158+56T=