Canonical Allele Identifier: CA2202940904
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3740510C= , CM000678.2:g.3740510C= GRCh38
NC_000016.9:g.3790511C= , CM000678.1:g.3790511C= GRCh37
NC_000016.8:g.3730512C= NCBI36
NG_009873.1:g.144611G=
NG_009873.2:g.145204G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.4022G= MANE Select ENSP00000262367.5:p.Arg1341=
ENST00000262367.9:c.4022G= ENSP00000262367.5:p.Arg1341=
ENST00000382070.7:c.3908G= ENSP00000371502.3:p.Arg1303=
ENST00000570939.2:c.2657G= ENSP00000461002.2:p.Arg886=
ENST00000572569.1:n.486G=
ENST00000573517.6:c.328G=
ENST00000574740.1:n.104G=
ENST00000576720.1:n.2959G=
NM_001079846.1:c.3908G= NP_001073315.1:p.Arg1303=
NM_004380.2:c.4022G= NP_004371.2:p.Arg1341=
XM_005255124.3:c.3977G= XP_005255181.1:p.Arg1326=
XM_005255125.3:c.3605G= XP_005255182.1:p.Arg1202=
XM_006720848.2:c.4022G= XP_006720911.1:p.Arg1341=
XM_011522380.1:c.3968G= XP_011520682.1:p.Arg1323=
XM_011522381.1:c.3269G= XP_011520683.1:p.Arg1090=
XM_005255124.4:c.3977G= XP_005255181.1:p.Arg1326=
XM_005255125.4:c.3605G= XP_005255182.1:p.Arg1202=
XM_006720848.3:c.4022G= XP_006720911.1:p.Arg1341=
XM_011522381.2:c.3269G= XP_011520683.1:p.Arg1090=
XM_017022944.1:c.4016G= XP_016878433.1:p.Arg1339=
NM_004380.3:c.4022G= MANE Select NP_004371.2:p.Arg1341=