Canonical Allele Identifier: CA394557171
Gene: CREBBP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729723C>A , CM000678.2:g.3729723C>A GRCh38
NC_000016.9:g.3779724C>A , CM000678.1:g.3779724C>A GRCh37
NC_000016.8:g.3719725C>A NCBI36
NG_009873.1:g.155398G>T
NG_009873.2:g.155991G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5324G>T MANE Select ENSP00000262367.5:p.Cys1775Phe
ENST00000262367.9:c.5324G>T ENSP00000262367.5:p.Cys1775Phe
ENST00000382070.7:c.5210G>T ENSP00000371502.3:p.Cys1737Phe
NM_001079846.1:c.5210G>T NP_001073315.1:p.Cys1737Phe
NM_004380.2:c.5324G>T NP_004371.2:p.Cys1775Phe
XM_005255124.3:c.5279G>T XP_005255181.1:p.Cys1760Phe
XM_005255125.3:c.4907G>T XP_005255182.1:p.Cys1636Phe
XM_006720848.2:c.5063G>T XP_006720911.1:p.Cys1688Phe
XM_011522380.1:c.5270G>T XP_011520682.1:p.Cys1757Phe
XM_011522381.1:c.4571G>T XP_011520683.1:p.Cys1524Phe
XM_005255124.4:c.5279G>T XP_005255181.1:p.Cys1760Phe
XM_005255125.4:c.4907G>T XP_005255182.1:p.Cys1636Phe
XM_006720848.3:c.5063G>T XP_006720911.1:p.Cys1688Phe
XM_011522381.2:c.4571G>T XP_011520683.1:p.Cys1524Phe
XM_017022944.1:c.5318G>T XP_016878433.1:p.Cys1773Phe
NM_004380.3:c.5324G>T MANE Select NP_004371.2:p.Cys1775Phe