Canonical Allele Identifier: CA2202958498
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3777888T= , CM000678.2:g.3777888T= GRCh38
NC_000016.9:g.3827889T= , CM000678.1:g.3827889T= GRCh37
NC_000016.8:g.3767890T= NCBI36
NG_009873.1:g.107233A=
NG_009873.2:g.107826A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.2113+123A= MANE Select ENSP00000262367.5:n.2113+123A=
ENST00000262367.9:c.2113+123A= ENSP00000262367.5:n.2113+123A=
ENST00000382070.7:c.1999+123A= ENSP00000371502.3:n.1999+123A=
ENST00000570939.2:c.718+123A= ENSP00000461002.2:n.718+123A=
ENST00000571826.5:c.162+123A=
ENST00000572134.1:c.426+123A=
NM_001079846.1:c.1999+123A= NP_001073315.1:n.1999+123A=
NM_004380.2:c.2113+123A= NP_004371.2:n.2113+123A=
XM_005255124.3:c.2113+123A= XP_005255181.1:n.2113+123A=
XM_005255125.3:c.2113+123A= XP_005255182.1:n.2113+123A=
XM_006720848.2:c.2113+123A= XP_006720911.1:n.2113+123A=
XM_011522380.1:c.2059+123A= XP_011520682.1:n.2059+123A=
XM_011522381.1:c.1360+123A= XP_011520683.1:n.1360+123A=
XM_011522382.1:c.2113+123A= XP_011520684.1:n.2113+123A=
XM_005255124.4:c.2113+123A= XP_005255181.1:n.2113+123A=
XM_005255125.4:c.2113+123A= XP_005255182.1:n.2113+123A=
XM_006720848.3:c.2113+123A= XP_006720911.1:n.2113+123A=
XM_011522381.2:c.1360+123A= XP_011520683.1:n.1360+123A=
XM_011522382.3:c.2113+123A= XP_011520684.1:n.2113+123A=
XM_017022944.1:c.2113+123A= XP_016878433.1:n.2113+123A=
NM_004380.3:c.2113+123A= MANE Select NP_004371.2:n.2113+123A=