Canonical Allele Identifier: CA2202958612
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3777991G= , CM000678.2:g.3777991G= GRCh38
NC_000016.9:g.3827992G= , CM000678.1:g.3827992G= GRCh37
NC_000016.8:g.3767993G= NCBI36
NG_009873.1:g.107130C=
NG_009873.2:g.107723C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.2113+20C= MANE Select ENSP00000262367.5:n.2113+20C=
ENST00000262367.9:c.2113+20C= ENSP00000262367.5:n.2113+20C=
ENST00000382070.7:c.1999+20C= ENSP00000371502.3:n.1999+20C=
ENST00000570939.2:c.718+20C= ENSP00000461002.2:n.718+20C=
ENST00000571826.5:c.162+20C=
ENST00000572134.1:c.426+20C=
ENST00000634839.1:n.295C=
NM_001079846.1:c.1999+20C= NP_001073315.1:n.1999+20C=
NM_004380.2:c.2113+20C= NP_004371.2:n.2113+20C=
XM_005255124.3:c.2113+20C= XP_005255181.1:n.2113+20C=
XM_005255125.3:c.2113+20C= XP_005255182.1:n.2113+20C=
XM_006720848.2:c.2113+20C= XP_006720911.1:n.2113+20C=
XM_011522380.1:c.2059+20C= XP_011520682.1:n.2059+20C=
XM_011522381.1:c.1360+20C= XP_011520683.1:n.1360+20C=
XM_011522382.1:c.2113+20C= XP_011520684.1:n.2113+20C=
XM_005255124.4:c.2113+20C= XP_005255181.1:n.2113+20C=
XM_005255125.4:c.2113+20C= XP_005255182.1:n.2113+20C=
XM_006720848.3:c.2113+20C= XP_006720911.1:n.2113+20C=
XM_011522381.2:c.1360+20C= XP_011520683.1:n.1360+20C=
XM_011522382.3:c.2113+20C= XP_011520684.1:n.2113+20C=
XM_017022944.1:c.2113+20C= XP_016878433.1:n.2113+20C=
NM_004380.3:c.2113+20C= MANE Select NP_004371.2:n.2113+20C=