Canonical Allele Identifier: CA16620202
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 418148
dbSNP Id: rs1064793090
gnomAD v2: 16-3779844-G-A
gnomAD v4: 16-3729843-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729843G>A , CM000678.2:g.3729843G>A GRCh38
NC_000016.9:g.3779844G>A , CM000678.1:g.3779844G>A GRCh37
NC_000016.8:g.3719845G>A NCBI36
NG_009873.1:g.155278C>T
NG_009873.2:g.155871C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5204C>T MANE Select ENSP00000262367.5:p.Thr1735Met
ENST00000262367.9:c.5204C>T ENSP00000262367.5:p.Thr1735Met
ENST00000382070.7:c.5090C>T ENSP00000371502.3:p.Thr1697Met
NM_001079846.1:c.5090C>T NP_001073315.1:p.Thr1697Met
NM_004380.2:c.5204C>T NP_004371.2:p.Thr1735Met
XM_005255124.3:c.5159C>T XP_005255181.1:p.Thr1720Met
XM_005255125.3:c.4787C>T XP_005255182.1:p.Thr1596Met
XM_006720848.2:c.4943C>T XP_006720911.1:p.Thr1648Met
XM_011522380.1:c.5150C>T XP_011520682.1:p.Thr1717Met
XM_011522381.1:c.4451C>T XP_011520683.1:p.Thr1484Met
XM_005255124.4:c.5159C>T XP_005255181.1:p.Thr1720Met
XM_005255125.4:c.4787C>T XP_005255182.1:p.Thr1596Met
XM_006720848.3:c.4943C>T XP_006720911.1:p.Thr1648Met
XM_011522381.2:c.4451C>T XP_011520683.1:p.Thr1484Met
XM_017022944.1:c.5198C>T XP_016878433.1:p.Thr1733Met
NM_004380.3:c.5204C>T MANE Select NP_004371.2:p.Thr1735Met