Canonical Allele Identifier: CA2202916447
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729557G= , CM000678.2:g.3729557G= GRCh38
NC_000016.9:g.3779558G= , CM000678.1:g.3779558G= GRCh37
NC_000016.8:g.3719559G= NCBI36
NG_009873.1:g.155564C=
NG_009873.2:g.156157C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5490C= MANE Select ENSP00000262367.5:p.Ala1830=
ENST00000262367.9:c.5490C= ENSP00000262367.5:p.Ala1830=
ENST00000382070.7:c.5376C= ENSP00000371502.3:p.Ala1792=
NM_001079846.1:c.5376C= NP_001073315.1:p.Ala1792=
NM_004380.2:c.5490C= NP_004371.2:p.Ala1830=
XM_005255124.3:c.5445C= XP_005255181.1:p.Ala1815=
XM_005255125.3:c.5073C= XP_005255182.1:p.Ala1691=
XM_006720848.2:c.5229C= XP_006720911.1:p.Ala1743=
XM_011522380.1:c.5436C= XP_011520682.1:p.Ala1812=
XM_011522381.1:c.4737C= XP_011520683.1:p.Ala1579=
XM_005255124.4:c.5445C= XP_005255181.1:p.Ala1815=
XM_005255125.4:c.5073C= XP_005255182.1:p.Ala1691=
XM_006720848.3:c.5229C= XP_006720911.1:p.Ala1743=
XM_011522381.2:c.4737C= XP_011520683.1:p.Ala1579=
XM_017022944.1:c.5484C= XP_016878433.1:p.Ala1828=
NM_004380.3:c.5490C= MANE Select NP_004371.2:p.Ala1830=