Canonical Allele Identifier: CA2202940637
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3740265G= , CM000678.2:g.3740265G= GRCh38
NC_000016.9:g.3790266G= , CM000678.1:g.3790266G= GRCh37
NC_000016.8:g.3730267G= NCBI36
NG_009873.1:g.144856C=
NG_009873.2:g.145449C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.4133+134C= MANE Select ENSP00000262367.5:n.4133+134C=
ENST00000262367.9:c.4133+134C= ENSP00000262367.5:n.4133+134C=
ENST00000382070.7:c.4019+134C= ENSP00000371502.3:n.4019+134C=
ENST00000570939.2:c.2768+134C= ENSP00000461002.2:n.2768+134C=
ENST00000573517.6:c.439+134C=
ENST00000574740.1:n.215+134C=
ENST00000576720.1:n.3070+134C=
NM_001079846.1:c.4019+134C= NP_001073315.1:n.4019+134C=
NM_004380.2:c.4133+134C= NP_004371.2:n.4133+134C=
XM_005255124.3:c.4088+134C= XP_005255181.1:n.4088+134C=
XM_005255125.3:c.3716+134C= XP_005255182.1:n.3716+134C=
XM_006720848.2:c.4133+134C= XP_006720911.1:n.4133+134C=
XM_011522380.1:c.4079+134C= XP_011520682.1:n.4079+134C=
XM_011522381.1:c.3380+134C= XP_011520683.1:n.3380+134C=
XM_005255124.4:c.4088+134C= XP_005255181.1:n.4088+134C=
XM_005255125.4:c.3716+134C= XP_005255182.1:n.3716+134C=
XM_006720848.3:c.4133+134C= XP_006720911.1:n.4133+134C=
XM_011522381.2:c.3380+134C= XP_011520683.1:n.3380+134C=
XM_017022944.1:c.4127+134C= XP_016878433.1:n.4127+134C=
NM_004380.3:c.4133+134C= MANE Select NP_004371.2:n.4133+134C=