Canonical Allele Identifier: CA394550132
Gene: CREBBP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3727755G>T , CM000678.2:g.3727755G>T GRCh38
NC_000016.9:g.3777756G>T , CM000678.1:g.3777756G>T GRCh37
NC_000016.8:g.3717757G>T NCBI36
NG_009873.1:g.157366C>A
NG_009873.2:g.157959C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.7292C>A MANE Select ENSP00000262367.5:p.Thr2431Lys
ENST00000262367.9:c.7292C>A ENSP00000262367.5:p.Thr2431Lys
ENST00000382070.7:c.7178C>A ENSP00000371502.3:p.Thr2393Lys
NM_001079846.1:c.7178C>A NP_001073315.1:p.Thr2393Lys
NM_004380.2:c.7292C>A NP_004371.2:p.Thr2431Lys
XM_005255124.3:c.7247C>A XP_005255181.1:p.Thr2416Lys
XM_005255125.3:c.6875C>A XP_005255182.1:p.Thr2292Lys
XM_006720848.2:c.7031C>A XP_006720911.1:p.Thr2344Lys
XM_011522380.1:c.7238C>A XP_011520682.1:p.Thr2413Lys
XM_011522381.1:c.6539C>A XP_011520683.1:p.Thr2180Lys
XM_005255124.4:c.7247C>A XP_005255181.1:p.Thr2416Lys
XM_005255125.4:c.6875C>A XP_005255182.1:p.Thr2292Lys
XM_006720848.3:c.7031C>A XP_006720911.1:p.Thr2344Lys
XM_011522381.2:c.6539C>A XP_011520683.1:p.Thr2180Lys
XM_017022944.1:c.7286C>A XP_016878433.1:p.Thr2429Lys
NM_004380.3:c.7292C>A MANE Select NP_004371.2:p.Thr2431Lys