Canonical Allele Identifier: CA2202958620
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3778000A= , CM000678.2:g.3778000A= GRCh38
NC_000016.9:g.3828001A= , CM000678.1:g.3828001A= GRCh37
NC_000016.8:g.3768002A= NCBI36
NG_009873.1:g.107121T=
NG_009873.2:g.107714T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.2113+11T= MANE Select ENSP00000262367.5:n.2113+11T=
ENST00000262367.9:c.2113+11T= ENSP00000262367.5:n.2113+11T=
ENST00000382070.7:c.1999+11T= ENSP00000371502.3:n.1999+11T=
ENST00000570939.2:c.718+11T= ENSP00000461002.2:n.718+11T=
ENST00000571826.5:c.162+11T=
ENST00000572134.1:c.426+11T=
ENST00000634839.1:n.286T=
NM_001079846.1:c.1999+11T= NP_001073315.1:n.1999+11T=
NM_004380.2:c.2113+11T= NP_004371.2:n.2113+11T=
XM_005255124.3:c.2113+11T= XP_005255181.1:n.2113+11T=
XM_005255125.3:c.2113+11T= XP_005255182.1:n.2113+11T=
XM_006720848.2:c.2113+11T= XP_006720911.1:n.2113+11T=
XM_011522380.1:c.2059+11T= XP_011520682.1:n.2059+11T=
XM_011522381.1:c.1360+11T= XP_011520683.1:n.1360+11T=
XM_011522382.1:c.2113+11T= XP_011520684.1:n.2113+11T=
XM_005255124.4:c.2113+11T= XP_005255181.1:n.2113+11T=
XM_005255125.4:c.2113+11T= XP_005255182.1:n.2113+11T=
XM_006720848.3:c.2113+11T= XP_006720911.1:n.2113+11T=
XM_011522381.2:c.1360+11T= XP_011520683.1:n.1360+11T=
XM_011522382.3:c.2113+11T= XP_011520684.1:n.2113+11T=
XM_017022944.1:c.2113+11T= XP_016878433.1:n.2113+11T=
NM_004380.3:c.2113+11T= MANE Select NP_004371.2:n.2113+11T=