Canonical Allele Identifier: CA394566159
Gene: CREBBP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3810752A>G , CM000678.2:g.3810752A>G GRCh38
NC_000016.9:g.3860753A>G , CM000678.1:g.3860753A>G GRCh37
NC_000016.8:g.3800754A>G NCBI36
NG_009873.1:g.74369T>C
NG_009873.2:g.74962T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.826T>C MANE Select ENSP00000262367.5:p.Phe276Leu
ENST00000635899.1:n.68T>C
ENST00000262367.9:c.826T>C ENSP00000262367.5:p.Phe276Leu
ENST00000382070.7:c.826T>C ENSP00000371502.3:p.Phe276Leu
NM_001079846.1:c.826T>C NP_001073315.1:p.Phe276Leu
NM_004380.2:c.826T>C NP_004371.2:p.Phe276Leu
XM_005255124.3:c.826T>C XP_005255181.1:p.Phe276Leu
XM_005255125.3:c.826T>C XP_005255182.1:p.Phe276Leu
XM_006720848.2:c.826T>C XP_006720911.1:p.Phe276Leu
XM_011522380.1:c.772T>C XP_011520682.1:p.Phe258Leu
XM_011522381.1:c.73T>C XP_011520683.1:p.Phe25Leu
XM_011522382.1:c.826T>C XP_011520684.1:p.Phe276Leu
XM_005255124.4:c.826T>C XP_005255181.1:p.Phe276Leu
XM_005255125.4:c.826T>C XP_005255182.1:p.Phe276Leu
XM_006720848.3:c.826T>C XP_006720911.1:p.Phe276Leu
XM_011522381.2:c.73T>C XP_011520683.1:p.Phe25Leu
XM_011522382.3:c.826T>C XP_011520684.1:p.Phe276Leu
XM_017022944.1:c.826T>C XP_016878433.1:p.Phe276Leu
NM_004380.3:c.826T>C MANE Select NP_004371.2:p.Phe276Leu