Canonical Allele Identifier: CA158195
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 133938
dbSNP Id: rs587778215
gnomAD v2: 16-3778092-T-A
gnomAD v3: 16-3728091-T-A
gnomAD v4: 16-3728091-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728091T>A , CM000678.2:g.3728091T>A GRCh38
NC_000016.9:g.3778092T>A , CM000678.1:g.3778092T>A GRCh37
NC_000016.8:g.3718093T>A NCBI36
NG_009873.1:g.157030A>T
NG_009873.2:g.157623A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6956A>T MANE Select ENSP00000262367.5:p.His2319Leu
ENST00000262367.9:c.6956A>T ENSP00000262367.5:p.His2319Leu
ENST00000382070.7:c.6842A>T ENSP00000371502.3:p.His2281Leu
NM_001079846.1:c.6842A>T NP_001073315.1:p.His2281Leu
NM_004380.2:c.6956A>T NP_004371.2:p.His2319Leu
XM_005255124.3:c.6911A>T XP_005255181.1:p.His2304Leu
XM_005255125.3:c.6539A>T XP_005255182.1:p.His2180Leu
XM_006720848.2:c.6695A>T XP_006720911.1:p.His2232Leu
XM_011522380.1:c.6902A>T XP_011520682.1:p.His2301Leu
XM_011522381.1:c.6203A>T XP_011520683.1:p.His2068Leu
XM_005255124.4:c.6911A>T XP_005255181.1:p.His2304Leu
XM_005255125.4:c.6539A>T XP_005255182.1:p.His2180Leu
XM_006720848.3:c.6695A>T XP_006720911.1:p.His2232Leu
XM_011522381.2:c.6203A>T XP_011520683.1:p.His2068Leu
XM_017022944.1:c.6950A>T XP_016878433.1:p.His2317Leu
NM_004380.3:c.6956A>T MANE Select NP_004371.2:p.His2319Leu