Canonical Allele Identifier: CA276971136
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 2118250
ClinVar RCV Id: RCV003030383
dbSNP Id: rs543811185
gnomAD v2: 16-3778042-C-T
gnomAD v3: 16-3728041-C-T
gnomAD v4: 16-3728041-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728041C>T , CM000678.2:g.3728041C>T GRCh38
NC_000016.9:g.3778042C>T , CM000678.1:g.3778042C>T GRCh37
NC_000016.8:g.3718043C>T NCBI36
NG_009873.1:g.157080G>A
NG_009873.2:g.157673G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.7006G>A MANE Select ENSP00000262367.5:p.Ala2336Thr
ENST00000262367.9:c.7006G>A ENSP00000262367.5:p.Ala2336Thr
ENST00000382070.7:c.6892G>A ENSP00000371502.3:p.Ala2298Thr
NM_001079846.1:c.6892G>A NP_001073315.1:p.Ala2298Thr
NM_004380.2:c.7006G>A NP_004371.2:p.Ala2336Thr
XM_005255124.3:c.6961G>A XP_005255181.1:p.Ala2321Thr
XM_005255125.3:c.6589G>A XP_005255182.1:p.Ala2197Thr
XM_006720848.2:c.6745G>A XP_006720911.1:p.Ala2249Thr
XM_011522380.1:c.6952G>A XP_011520682.1:p.Ala2318Thr
XM_011522381.1:c.6253G>A XP_011520683.1:p.Ala2085Thr
XM_005255124.4:c.6961G>A XP_005255181.1:p.Ala2321Thr
XM_005255125.4:c.6589G>A XP_005255182.1:p.Ala2197Thr
XM_006720848.3:c.6745G>A XP_006720911.1:p.Ala2249Thr
XM_011522381.2:c.6253G>A XP_011520683.1:p.Ala2085Thr
XM_017022944.1:c.7000G>A XP_016878433.1:p.Ala2334Thr
NM_004380.3:c.7006G>A MANE Select NP_004371.2:p.Ala2336Thr