Canonical Allele Identifier: CA394556106
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs2151310156

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729519C>T , CM000678.2:g.3729519C>T GRCh38
NC_000016.9:g.3779520C>T , CM000678.1:g.3779520C>T GRCh37
NC_000016.8:g.3719521C>T NCBI36
NG_009873.1:g.155602G>A
NG_009873.2:g.156195G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5528G>A MANE Select ENSP00000262367.5:p.Cys1843Tyr
ENST00000262367.9:c.5528G>A ENSP00000262367.5:p.Cys1843Tyr
ENST00000382070.7:c.5414G>A ENSP00000371502.3:p.Cys1805Tyr
NM_001079846.1:c.5414G>A NP_001073315.1:p.Cys1805Tyr
NM_004380.2:c.5528G>A NP_004371.2:p.Cys1843Tyr
XM_005255124.3:c.5483G>A XP_005255181.1:p.Cys1828Tyr
XM_005255125.3:c.5111G>A XP_005255182.1:p.Cys1704Tyr
XM_006720848.2:c.5267G>A XP_006720911.1:p.Cys1756Tyr
XM_011522380.1:c.5474G>A XP_011520682.1:p.Cys1825Tyr
XM_011522381.1:c.4775G>A XP_011520683.1:p.Cys1592Tyr
XM_005255124.4:c.5483G>A XP_005255181.1:p.Cys1828Tyr
XM_005255125.4:c.5111G>A XP_005255182.1:p.Cys1704Tyr
XM_006720848.3:c.5267G>A XP_006720911.1:p.Cys1756Tyr
XM_011522381.2:c.4775G>A XP_011520683.1:p.Cys1592Tyr
XM_017022944.1:c.5522G>A XP_016878433.1:p.Cys1841Tyr
NM_004380.3:c.5528G>A MANE Select NP_004371.2:p.Cys1843Tyr