Canonical Allele Identifier: CA394550521
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 1713362
ClinVar RCV Id: RCV002295403
dbSNP Id: rs1225528201
gnomAD v4: 16-3727941-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3727941G>A , CM000678.2:g.3727941G>A GRCh38
NC_000016.9:g.3777942G>A , CM000678.1:g.3777942G>A GRCh37
NC_000016.8:g.3717943G>A NCBI36
NG_009873.1:g.157180C>T
NG_009873.2:g.157773C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.7106C>T MANE Select ENSP00000262367.5:p.Pro2369Leu
ENST00000262367.9:c.7106C>T ENSP00000262367.5:p.Pro2369Leu
ENST00000382070.7:c.6992C>T ENSP00000371502.3:p.Pro2331Leu
NM_001079846.1:c.6992C>T NP_001073315.1:p.Pro2331Leu
NM_004380.2:c.7106C>T NP_004371.2:p.Pro2369Leu
XM_005255124.3:c.7061C>T XP_005255181.1:p.Pro2354Leu
XM_005255125.3:c.6689C>T XP_005255182.1:p.Pro2230Leu
XM_006720848.2:c.6845C>T XP_006720911.1:p.Pro2282Leu
XM_011522380.1:c.7052C>T XP_011520682.1:p.Pro2351Leu
XM_011522381.1:c.6353C>T XP_011520683.1:p.Pro2118Leu
XM_005255124.4:c.7061C>T XP_005255181.1:p.Pro2354Leu
XM_005255125.4:c.6689C>T XP_005255182.1:p.Pro2230Leu
XM_006720848.3:c.6845C>T XP_006720911.1:p.Pro2282Leu
XM_011522381.2:c.6353C>T XP_011520683.1:p.Pro2118Leu
XM_017022944.1:c.7100C>T XP_016878433.1:p.Pro2367Leu
NM_004380.3:c.7106C>T MANE Select NP_004371.2:p.Pro2369Leu