Canonical Allele Identifier: CA2202916117
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728924G= , CM000678.2:g.3728924G= GRCh38
NC_000016.9:g.3778925G= , CM000678.1:g.3778925G= GRCh37
NC_000016.8:g.3718926G= NCBI36
NG_009873.1:g.156197C=
NG_009873.2:g.156790C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6123C= MANE Select ENSP00000262367.5:p.Ser2041=
ENST00000262367.9:c.6123C= ENSP00000262367.5:p.Ser2041=
ENST00000382070.7:c.6009C= ENSP00000371502.3:p.Ser2003=
NM_001079846.1:c.6009C= NP_001073315.1:p.Ser2003=
NM_004380.2:c.6123C= NP_004371.2:p.Ser2041=
XM_005255124.3:c.6078C= XP_005255181.1:p.Ser2026=
XM_005255125.3:c.5706C= XP_005255182.1:p.Ser1902=
XM_006720848.2:c.5862C= XP_006720911.1:p.Ser1954=
XM_011522380.1:c.6069C= XP_011520682.1:p.Ser2023=
XM_011522381.1:c.5370C= XP_011520683.1:p.Ser1790=
XM_005255124.4:c.6078C= XP_005255181.1:p.Ser2026=
XM_005255125.4:c.5706C= XP_005255182.1:p.Ser1902=
XM_006720848.3:c.5862C= XP_006720911.1:p.Ser1954=
XM_011522381.2:c.5370C= XP_011520683.1:p.Ser1790=
XM_017022944.1:c.6117C= XP_016878433.1:p.Ser2039=
NM_004380.3:c.6123C= MANE Select NP_004371.2:p.Ser2041=