Canonical Allele Identifier: CA2202916123
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728932C= , CM000678.2:g.3728932C= GRCh38
NC_000016.9:g.3778933C= , CM000678.1:g.3778933C= GRCh37
NC_000016.8:g.3718934C= NCBI36
NG_009873.1:g.156189G=
NG_009873.2:g.156782G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6115G= MANE Select ENSP00000262367.5:p.Val2039=
ENST00000262367.9:c.6115G= ENSP00000262367.5:p.Val2039=
ENST00000382070.7:c.6001G= ENSP00000371502.3:p.Val2001=
NM_001079846.1:c.6001G= NP_001073315.1:p.Val2001=
NM_004380.2:c.6115G= NP_004371.2:p.Val2039=
XM_005255124.3:c.6070G= XP_005255181.1:p.Val2024=
XM_005255125.3:c.5698G= XP_005255182.1:p.Val1900=
XM_006720848.2:c.5854G= XP_006720911.1:p.Val1952=
XM_011522380.1:c.6061G= XP_011520682.1:p.Val2021=
XM_011522381.1:c.5362G= XP_011520683.1:p.Val1788=
XM_005255124.4:c.6070G= XP_005255181.1:p.Val2024=
XM_005255125.4:c.5698G= XP_005255182.1:p.Val1900=
XM_006720848.3:c.5854G= XP_006720911.1:p.Val1952=
XM_011522381.2:c.5362G= XP_011520683.1:p.Val1788=
XM_017022944.1:c.6109G= XP_016878433.1:p.Val2037=
NM_004380.3:c.6115G= MANE Select NP_004371.2:p.Val2039=