Canonical Allele Identifier: CA2202928279
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3727676G= , CM000678.2:g.3727676G= GRCh38
NC_000016.9:g.3777677G= , CM000678.1:g.3777677G= GRCh37
NC_000016.8:g.3717678G= NCBI36
NG_009873.1:g.157445C=
NG_009873.2:g.158038C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.*42C= MANE Select ENSP00000262367.5:n.*42C=
ENST00000262367.9:c.*42C= ENSP00000262367.5:n.*42C=
ENST00000382070.7:c.*42C= ENSP00000371502.3:n.*42C=
NM_001079846.1:c.*42C= NP_001073315.1:n.*42C=
NM_004380.2:c.*42C= NP_004371.2:n.*42C=
XM_005255124.3:c.*42C= XP_005255181.1:n.*42C=
XM_005255125.3:c.*42C= XP_005255182.1:n.*42C=
XM_006720848.2:c.*42C= XP_006720911.1:n.*42C=
XM_011522380.1:c.*42C= XP_011520682.1:n.*42C=
XM_011522381.1:c.*42C= XP_011520683.1:n.*42C=
XM_005255124.4:c.*42C= XP_005255181.1:n.*42C=
XM_005255125.4:c.*42C= XP_005255182.1:n.*42C=
XM_006720848.3:c.*42C= XP_006720911.1:n.*42C=
XM_011522381.2:c.*42C= XP_011520683.1:n.*42C=
XM_017022944.1:c.*42C= XP_016878433.1:n.*42C=
NM_004380.3:c.*42C= MANE Select NP_004371.2:n.*42C=