Canonical Allele Identifier: CA2202950880
Community Standard Title: NM_004380.3(CREBBP):c.2659C= (p.Gln887=)
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3770791G= , CM000678.2:g.3770791G= GRCh38
NC_000016.9:g.3820792G= , CM000678.1:g.3820792G= GRCh37
NC_000016.8:g.3760793G= NCBI36
NG_009873.1:g.114330C=
NG_009873.2:g.114923C=

Transcript Alleles

HGVS Amino-acid Change
NM_004380.3:c.2659C= MANE Select NP_004371.2:p.Gln887=
ENST00000262367.10:c.2659C= MANE Select ENSP00000262367.5:p.Gln887=
NM_001079846.1:c.2545C= NP_001073315.1:p.Gln849=
NM_004380.2:c.2659C= NP_004371.2:p.Gln887=
ENST00000262367.9:c.2659C= ENSP00000262367.5:p.Gln887=
ENST00000382070.7:c.2545C= ENSP00000371502.3:p.Gln849=
ENST00000570939.2:c.1264C= ENSP00000461002.2:p.Gln422=
XM_005255124.3:c.2614C= XP_005255181.1:p.Gln872=
XM_005255124.4:c.2614C= XP_005255181.1:p.Gln872=
XM_005255125.3:c.2464-1438C= XP_005255182.1:n.2464-1438C=
XM_005255125.4:c.2464-1438C= XP_005255182.1:n.2464-1438C=
XM_006720848.2:c.2659C= XP_006720911.1:p.Gln887=
XM_006720848.3:c.2659C= XP_006720911.1:p.Gln887=
XM_011522380.1:c.2605C= XP_011520682.1:p.Gln869=
XM_011522381.1:c.1906C= XP_011520683.1:p.Gln636=
XM_011522381.2:c.1906C= XP_011520683.1:p.Gln636=
XM_011522382.1:c.2659C= XP_011520684.1:p.Gln887=
XM_011522382.3:c.2659C= XP_011520684.1:p.Gln887=
XM_017022944.1:c.2653C= XP_016878433.1:p.Gln885=