Canonical Allele Identifier: CA158168
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 133925
dbSNP Id: rs139050013
gnomAD v2: 16-3820912-G-T
gnomAD v3: 16-3770911-G-T
gnomAD v4: 16-3770911-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3770911G>T , CM000678.2:g.3770911G>T GRCh38
NC_000016.9:g.3820912G>T , CM000678.1:g.3820912G>T GRCh37
NC_000016.8:g.3760913G>T NCBI36
NG_009873.1:g.114210C>A
NG_009873.2:g.114803C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.2539C>A MANE Select ENSP00000262367.5:p.Pro847Thr
ENST00000262367.9:c.2539C>A ENSP00000262367.5:p.Pro847Thr
ENST00000382070.7:c.2425C>A ENSP00000371502.3:p.Pro809Thr
ENST00000570939.2:c.1144C>A ENSP00000461002.2:p.Pro382Thr
NM_001079846.1:c.2425C>A NP_001073315.1:p.Pro809Thr
NM_004380.2:c.2539C>A NP_004371.2:p.Pro847Thr
XM_005255124.3:c.2494C>A XP_005255181.1:p.Pro832Thr
XM_005255125.3:c.2464-1558C>A XP_005255182.1:n.2464-1558C>A
XM_006720848.2:c.2539C>A XP_006720911.1:p.Pro847Thr
XM_011522380.1:c.2485C>A XP_011520682.1:p.Pro829Thr
XM_011522381.1:c.1786C>A XP_011520683.1:p.Pro596Thr
XM_011522382.1:c.2539C>A XP_011520684.1:p.Pro847Thr
XM_005255124.4:c.2494C>A XP_005255181.1:p.Pro832Thr
XM_005255125.4:c.2464-1558C>A XP_005255182.1:n.2464-1558C>A
XM_006720848.3:c.2539C>A XP_006720911.1:p.Pro847Thr
XM_011522381.2:c.1786C>A XP_011520683.1:p.Pro596Thr
XM_011522382.3:c.2539C>A XP_011520684.1:p.Pro847Thr
XM_017022944.1:c.2533C>A XP_016878433.1:p.Pro845Thr
NM_004380.3:c.2539C>A MANE Select NP_004371.2:p.Pro847Thr