Canonical Allele Identifier: CA394553724
Gene: CREBBP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728763T>A , CM000678.2:g.3728763T>A GRCh38
NC_000016.9:g.3778764T>A , CM000678.1:g.3778764T>A GRCh37
NC_000016.8:g.3718765T>A NCBI36
NG_009873.1:g.156358A>T
NG_009873.2:g.156951A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6284A>T MANE Select ENSP00000262367.5:p.Gln2095Leu
ENST00000262367.9:c.6284A>T ENSP00000262367.5:p.Gln2095Leu
ENST00000382070.7:c.6170A>T ENSP00000371502.3:p.Gln2057Leu
NM_001079846.1:c.6170A>T NP_001073315.1:p.Gln2057Leu
NM_004380.2:c.6284A>T NP_004371.2:p.Gln2095Leu
XM_005255124.3:c.6239A>T XP_005255181.1:p.Gln2080Leu
XM_005255125.3:c.5867A>T XP_005255182.1:p.Gln1956Leu
XM_006720848.2:c.6023A>T XP_006720911.1:p.Gln2008Leu
XM_011522380.1:c.6230A>T XP_011520682.1:p.Gln2077Leu
XM_011522381.1:c.5531A>T XP_011520683.1:p.Gln1844Leu
XM_005255124.4:c.6239A>T XP_005255181.1:p.Gln2080Leu
XM_005255125.4:c.5867A>T XP_005255182.1:p.Gln1956Leu
XM_006720848.3:c.6023A>T XP_006720911.1:p.Gln2008Leu
XM_011522381.2:c.5531A>T XP_011520683.1:p.Gln1844Leu
XM_017022944.1:c.6278A>T XP_016878433.1:p.Gln2093Leu
NM_004380.3:c.6284A>T MANE Select NP_004371.2:p.Gln2095Leu