Canonical Allele Identifier: CA2202936678
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3736750T= , CM000678.2:g.3736750T= GRCh38
NC_000016.9:g.3786751T= , CM000678.1:g.3786751T= GRCh37
NC_000016.8:g.3726752T= NCBI36
NG_009873.1:g.148371A=
NG_009873.2:g.148964A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.4460A= MANE Select ENSP00000262367.5:p.His1487=
ENST00000262367.9:c.4460A= ENSP00000262367.5:p.His1487=
ENST00000382070.7:c.4346A= ENSP00000371502.3:p.His1449=
ENST00000570939.2:c.3095A= ENSP00000461002.2:p.His1032=
ENST00000571763.5:n.250A=
ENST00000574740.1:n.281A=
ENST00000576720.1:n.3283A=
NM_001079846.1:c.4346A= NP_001073315.1:p.His1449=
NM_004380.2:c.4460A= NP_004371.2:p.His1487=
XM_005255124.3:c.4415A= XP_005255181.1:p.His1472=
XM_005255125.3:c.4043A= XP_005255182.1:p.His1348=
XM_006720848.2:c.4199A= XP_006720911.1:p.His1400=
XM_011522380.1:c.4406A= XP_011520682.1:p.His1469=
XM_011522381.1:c.3707A= XP_011520683.1:p.His1236=
XM_005255124.4:c.4415A= XP_005255181.1:p.His1472=
XM_005255125.4:c.4043A= XP_005255182.1:p.His1348=
XM_006720848.3:c.4199A= XP_006720911.1:p.His1400=
XM_011522381.2:c.3707A= XP_011520683.1:p.His1236=
XM_017022944.1:c.4454A= XP_016878433.1:p.His1485=
NM_004380.3:c.4460A= MANE Select NP_004371.2:p.His1487=