Canonical Allele Identifier: CA2202958650
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3778026G= , CM000678.2:g.3778026G= GRCh38
NC_000016.9:g.3828027G= , CM000678.1:g.3828027G= GRCh37
NC_000016.8:g.3768028G= NCBI36
NG_009873.1:g.107095C=
NG_009873.2:g.107688C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.2098C= MANE Select ENSP00000262367.5:p.Pro700=
ENST00000262367.9:c.2098C= ENSP00000262367.5:p.Pro700=
ENST00000382070.7:c.1984C= ENSP00000371502.3:p.Pro662=
ENST00000570939.2:c.703C= ENSP00000461002.2:p.Pro235=
ENST00000571826.5:c.147C=
ENST00000572134.1:c.411C=
ENST00000634839.1:n.260C=
NM_001079846.1:c.1984C= NP_001073315.1:p.Pro662=
NM_004380.2:c.2098C= NP_004371.2:p.Pro700=
XM_005255124.3:c.2098C= XP_005255181.1:p.Pro700=
XM_005255125.3:c.2098C= XP_005255182.1:p.Pro700=
XM_006720848.2:c.2098C= XP_006720911.1:p.Pro700=
XM_011522380.1:c.2044C= XP_011520682.1:p.Pro682=
XM_011522381.1:c.1345C= XP_011520683.1:p.Pro449=
XM_011522382.1:c.2098C= XP_011520684.1:p.Pro700=
XM_005255124.4:c.2098C= XP_005255181.1:p.Pro700=
XM_005255125.4:c.2098C= XP_005255182.1:p.Pro700=
XM_006720848.3:c.2098C= XP_006720911.1:p.Pro700=
XM_011522381.2:c.1345C= XP_011520683.1:p.Pro449=
XM_011522382.3:c.2098C= XP_011520684.1:p.Pro700=
XM_017022944.1:c.2098C= XP_016878433.1:p.Pro700=
NM_004380.3:c.2098C= MANE Select NP_004371.2:p.Pro700=