Canonical Allele Identifier: CA394553745
Gene: CREBBP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728772G>T , CM000678.2:g.3728772G>T GRCh38
NC_000016.9:g.3778773G>T , CM000678.1:g.3778773G>T GRCh37
NC_000016.8:g.3718774G>T NCBI36
NG_009873.1:g.156349C>A
NG_009873.2:g.156942C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6275C>A MANE Select ENSP00000262367.5:p.Ser2092Ter
ENST00000262367.9:c.6275C>A ENSP00000262367.5:p.Ser2092Ter
ENST00000382070.7:c.6161C>A ENSP00000371502.3:p.Ser2054Ter
NM_001079846.1:c.6161C>A NP_001073315.1:p.Ser2054Ter
NM_004380.2:c.6275C>A NP_004371.2:p.Ser2092Ter
XM_005255124.3:c.6230C>A XP_005255181.1:p.Ser2077Ter
XM_005255125.3:c.5858C>A XP_005255182.1:p.Ser1953Ter
XM_006720848.2:c.6014C>A XP_006720911.1:p.Ser2005Ter
XM_011522380.1:c.6221C>A XP_011520682.1:p.Ser2074Ter
XM_011522381.1:c.5522C>A XP_011520683.1:p.Ser1841Ter
XM_005255124.4:c.6230C>A XP_005255181.1:p.Ser2077Ter
XM_005255125.4:c.5858C>A XP_005255182.1:p.Ser1953Ter
XM_006720848.3:c.6014C>A XP_006720911.1:p.Ser2005Ter
XM_011522381.2:c.5522C>A XP_011520683.1:p.Ser1841Ter
XM_017022944.1:c.6269C>A XP_016878433.1:p.Ser2090Ter
NM_004380.3:c.6275C>A MANE Select NP_004371.2:p.Ser2092Ter