Canonical Allele Identifier: CA158207
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 133944
ClinVar RCV Id: RCV000120612
dbSNP Id: rs587778217
gnomAD v3: 16-3778074-C-T
gnomAD v4: 16-3778074-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3778074C>T , CM000678.2:g.3778074C>T GRCh38
NC_000016.9:g.3828075C>T , CM000678.1:g.3828075C>T GRCh37
NC_000016.8:g.3768076C>T NCBI36
NG_009873.1:g.107047G>A
NG_009873.2:g.107640G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.2050G>A MANE Select ENSP00000262367.5:p.Ala684Thr
ENST00000262367.9:c.2050G>A ENSP00000262367.5:p.Ala684Thr
ENST00000382070.7:c.1936G>A ENSP00000371502.3:p.Ala646Thr
ENST00000570939.2:c.655G>A ENSP00000461002.2:p.Ala219Thr
ENST00000571826.5:c.99G>A
ENST00000572134.1:c.363G>A
ENST00000634839.1:n.212G>A
NM_001079846.1:c.1936G>A NP_001073315.1:p.Ala646Thr
NM_004380.2:c.2050G>A NP_004371.2:p.Ala684Thr
XM_005255124.3:c.2050G>A XP_005255181.1:p.Ala684Thr
XM_005255125.3:c.2050G>A XP_005255182.1:p.Ala684Thr
XM_006720848.2:c.2050G>A XP_006720911.1:p.Ala684Thr
XM_011522380.1:c.1996G>A XP_011520682.1:p.Ala666Thr
XM_011522381.1:c.1297G>A XP_011520683.1:p.Ala433Thr
XM_011522382.1:c.2050G>A XP_011520684.1:p.Ala684Thr
XM_005255124.4:c.2050G>A XP_005255181.1:p.Ala684Thr
XM_005255125.4:c.2050G>A XP_005255182.1:p.Ala684Thr
XM_006720848.3:c.2050G>A XP_006720911.1:p.Ala684Thr
XM_011522381.2:c.1297G>A XP_011520683.1:p.Ala433Thr
XM_011522382.3:c.2050G>A XP_011520684.1:p.Ala684Thr
XM_017022944.1:c.2050G>A XP_016878433.1:p.Ala684Thr
NM_004380.3:c.2050G>A MANE Select NP_004371.2:p.Ala684Thr