Canonical Allele Identifier: CA2202940674
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3740306T= , CM000678.2:g.3740306T= GRCh38
NC_000016.9:g.3790307T= , CM000678.1:g.3790307T= GRCh37
NC_000016.8:g.3730308T= NCBI36
NG_009873.1:g.144815A=
NG_009873.2:g.145408A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.4133+93A= MANE Select ENSP00000262367.5:n.4133+93A=
ENST00000262367.9:c.4133+93A= ENSP00000262367.5:n.4133+93A=
ENST00000382070.7:c.4019+93A= ENSP00000371502.3:n.4019+93A=
ENST00000570939.2:c.2768+93A= ENSP00000461002.2:n.2768+93A=
ENST00000573517.6:c.439+93A=
ENST00000574740.1:n.215+93A=
ENST00000576720.1:n.3070+93A=
NM_001079846.1:c.4019+93A= NP_001073315.1:n.4019+93A=
NM_004380.2:c.4133+93A= NP_004371.2:n.4133+93A=
XM_005255124.3:c.4088+93A= XP_005255181.1:n.4088+93A=
XM_005255125.3:c.3716+93A= XP_005255182.1:n.3716+93A=
XM_006720848.2:c.4133+93A= XP_006720911.1:n.4133+93A=
XM_011522380.1:c.4079+93A= XP_011520682.1:n.4079+93A=
XM_011522381.1:c.3380+93A= XP_011520683.1:n.3380+93A=
XM_005255124.4:c.4088+93A= XP_005255181.1:n.4088+93A=
XM_005255125.4:c.3716+93A= XP_005255182.1:n.3716+93A=
XM_006720848.3:c.4133+93A= XP_006720911.1:n.4133+93A=
XM_011522381.2:c.3380+93A= XP_011520683.1:n.3380+93A=
XM_017022944.1:c.4127+93A= XP_016878433.1:n.4127+93A=
NM_004380.3:c.4133+93A= MANE Select NP_004371.2:n.4133+93A=