Canonical Allele Identifier: CA2202928487
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728117C= , CM000678.2:g.3728117C= GRCh38
NC_000016.9:g.3778118C= , CM000678.1:g.3778118C= GRCh37
NC_000016.8:g.3718119C= NCBI36
NG_009873.1:g.157004G=
NG_009873.2:g.157597G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6930G= MANE Select ENSP00000262367.5:p.Gln2310=
ENST00000262367.9:c.6930G= ENSP00000262367.5:p.Gln2310=
ENST00000382070.7:c.6816G= ENSP00000371502.3:p.Gln2272=
NM_001079846.1:c.6816G= NP_001073315.1:p.Gln2272=
NM_004380.2:c.6930G= NP_004371.2:p.Gln2310=
XM_005255124.3:c.6885G= XP_005255181.1:p.Gln2295=
XM_005255125.3:c.6513G= XP_005255182.1:p.Gln2171=
XM_006720848.2:c.6669G= XP_006720911.1:p.Gln2223=
XM_011522380.1:c.6876G= XP_011520682.1:p.Gln2292=
XM_011522381.1:c.6177G= XP_011520683.1:p.Gln2059=
XM_005255124.4:c.6885G= XP_005255181.1:p.Gln2295=
XM_005255125.4:c.6513G= XP_005255182.1:p.Gln2171=
XM_006720848.3:c.6669G= XP_006720911.1:p.Gln2223=
XM_011522381.2:c.6177G= XP_011520683.1:p.Gln2059=
XM_017022944.1:c.6924G= XP_016878433.1:p.Gln2308=
NM_004380.3:c.6930G= MANE Select NP_004371.2:p.Gln2310=