Canonical Allele Identifier: CA2202916496
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729701C= , CM000678.2:g.3729701C= GRCh38
NC_000016.9:g.3779702C= , CM000678.1:g.3779702C= GRCh37
NC_000016.8:g.3719703C= NCBI36
NG_009873.1:g.155420G=
NG_009873.2:g.156013G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5346G= MANE Select ENSP00000262367.5:p.Ala1782=
ENST00000262367.9:c.5346G= ENSP00000262367.5:p.Ala1782=
ENST00000382070.7:c.5232G= ENSP00000371502.3:p.Ala1744=
NM_001079846.1:c.5232G= NP_001073315.1:p.Ala1744=
NM_004380.2:c.5346G= NP_004371.2:p.Ala1782=
XM_005255124.3:c.5301G= XP_005255181.1:p.Ala1767=
XM_005255125.3:c.4929G= XP_005255182.1:p.Ala1643=
XM_006720848.2:c.5085G= XP_006720911.1:p.Ala1695=
XM_011522380.1:c.5292G= XP_011520682.1:p.Ala1764=
XM_011522381.1:c.4593G= XP_011520683.1:p.Ala1531=
XM_005255124.4:c.5301G= XP_005255181.1:p.Ala1767=
XM_005255125.4:c.4929G= XP_005255182.1:p.Ala1643=
XM_006720848.3:c.5085G= XP_006720911.1:p.Ala1695=
XM_011522381.2:c.4593G= XP_011520683.1:p.Ala1531=
XM_017022944.1:c.5340G= XP_016878433.1:p.Ala1780=
NM_004380.3:c.5346G= MANE Select NP_004371.2:p.Ala1782=