Canonical Allele Identifier: CA2202928787
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728645G= , CM000678.2:g.3728645G= GRCh38
NC_000016.9:g.3778646G= , CM000678.1:g.3778646G= GRCh37
NC_000016.8:g.3718647G= NCBI36
NG_009873.1:g.156476C=
NG_009873.2:g.157069C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6402C= MANE Select ENSP00000262367.5:p.His2134=
ENST00000262367.9:c.6402C= ENSP00000262367.5:p.His2134=
ENST00000382070.7:c.6288C= ENSP00000371502.3:p.His2096=
NM_001079846.1:c.6288C= NP_001073315.1:p.His2096=
NM_004380.2:c.6402C= NP_004371.2:p.His2134=
XM_005255124.3:c.6357C= XP_005255181.1:p.His2119=
XM_005255125.3:c.5985C= XP_005255182.1:p.His1995=
XM_006720848.2:c.6141C= XP_006720911.1:p.His2047=
XM_011522380.1:c.6348C= XP_011520682.1:p.His2116=
XM_011522381.1:c.5649C= XP_011520683.1:p.His1883=
XM_005255124.4:c.6357C= XP_005255181.1:p.His2119=
XM_005255125.4:c.5985C= XP_005255182.1:p.His1995=
XM_006720848.3:c.6141C= XP_006720911.1:p.His2047=
XM_011522381.2:c.5649C= XP_011520683.1:p.His1883=
XM_017022944.1:c.6396C= XP_016878433.1:p.His2132=
NM_004380.3:c.6402C= MANE Select NP_004371.2:p.His2134=