Canonical Allele Identifier: CA277007739
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 2210594
dbSNP Id: rs587778212
gnomAD v2: 16-3860615-C-T
gnomAD v3: 16-3810614-C-T
gnomAD v4: 16-3810614-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3810614C>T , CM000678.2:g.3810614C>T GRCh38
NC_000016.9:g.3860615C>T , CM000678.1:g.3860615C>T GRCh37
NC_000016.8:g.3800616C>T NCBI36
NG_009873.1:g.74507G>A
NG_009873.2:g.75100G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.964G>A MANE Select ENSP00000262367.5:p.Val322Met
ENST00000262367.9:c.964G>A ENSP00000262367.5:p.Val322Met
ENST00000382070.7:c.964G>A ENSP00000371502.3:p.Val322Met
NM_001079846.1:c.964G>A NP_001073315.1:p.Val322Met
NM_004380.2:c.964G>A NP_004371.2:p.Val322Met
XM_005255124.3:c.964G>A XP_005255181.1:p.Val322Met
XM_005255125.3:c.964G>A XP_005255182.1:p.Val322Met
XM_006720848.2:c.964G>A XP_006720911.1:p.Val322Met
XM_011522380.1:c.910G>A XP_011520682.1:p.Val304Met
XM_011522381.1:c.211G>A XP_011520683.1:p.Val71Met
XM_011522382.1:c.964G>A XP_011520684.1:p.Val322Met
XM_005255124.4:c.964G>A XP_005255181.1:p.Val322Met
XM_005255125.4:c.964G>A XP_005255182.1:p.Val322Met
XM_006720848.3:c.964G>A XP_006720911.1:p.Val322Met
XM_011522381.2:c.211G>A XP_011520683.1:p.Val71Met
XM_011522382.3:c.964G>A XP_011520684.1:p.Val322Met
XM_017022944.1:c.964G>A XP_016878433.1:p.Val322Met
NM_004380.3:c.964G>A MANE Select NP_004371.2:p.Val322Met