Canonical Allele Identifier: CA2202928858
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728809G= , CM000678.2:g.3728809G= GRCh38
NC_000016.9:g.3778810G= , CM000678.1:g.3778810G= GRCh37
NC_000016.8:g.3718811G= NCBI36
NG_009873.1:g.156312C=
NG_009873.2:g.156905C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6238C= MANE Select ENSP00000262367.5:p.Pro2080=
ENST00000262367.9:c.6238C= ENSP00000262367.5:p.Pro2080=
ENST00000382070.7:c.6124C= ENSP00000371502.3:p.Pro2042=
NM_001079846.1:c.6124C= NP_001073315.1:p.Pro2042=
NM_004380.2:c.6238C= NP_004371.2:p.Pro2080=
XM_005255124.3:c.6193C= XP_005255181.1:p.Pro2065=
XM_005255125.3:c.5821C= XP_005255182.1:p.Pro1941=
XM_006720848.2:c.5977C= XP_006720911.1:p.Pro1993=
XM_011522380.1:c.6184C= XP_011520682.1:p.Pro2062=
XM_011522381.1:c.5485C= XP_011520683.1:p.Pro1829=
XM_005255124.4:c.6193C= XP_005255181.1:p.Pro2065=
XM_005255125.4:c.5821C= XP_005255182.1:p.Pro1941=
XM_006720848.3:c.5977C= XP_006720911.1:p.Pro1993=
XM_011522381.2:c.5485C= XP_011520683.1:p.Pro1829=
XM_017022944.1:c.6232C= XP_016878433.1:p.Pro2078=
NM_004380.3:c.6238C= MANE Select NP_004371.2:p.Pro2080=