Canonical Allele Identifier: CA394563756
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 2046705
ClinVar RCV Id: RCV002913817
dbSNP Id: rs201156486

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3736739G>A , CM000678.2:g.3736739G>A GRCh38
NC_000016.9:g.3786740G>A , CM000678.1:g.3786740G>A GRCh37
NC_000016.8:g.3726741G>A NCBI36
NG_009873.1:g.148382C>T
NG_009873.2:g.148975C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.4471C>T MANE Select ENSP00000262367.5:p.Gln1491Ter
ENST00000262367.9:c.4471C>T ENSP00000262367.5:p.Gln1491Ter
ENST00000382070.7:c.4357C>T ENSP00000371502.3:p.Gln1453Ter
ENST00000570939.2:c.3106C>T ENSP00000461002.2:p.Gln1036Ter
ENST00000571763.5:n.261C>T
ENST00000574740.1:n.292C>T
ENST00000576720.1:n.3294C>T
NM_001079846.1:c.4357C>T NP_001073315.1:p.Gln1453Ter
NM_004380.2:c.4471C>T NP_004371.2:p.Gln1491Ter
XM_005255124.3:c.4426C>T XP_005255181.1:p.Gln1476Ter
XM_005255125.3:c.4054C>T XP_005255182.1:p.Gln1352Ter
XM_006720848.2:c.4210C>T XP_006720911.1:p.Gln1404Ter
XM_011522380.1:c.4417C>T XP_011520682.1:p.Gln1473Ter
XM_011522381.1:c.3718C>T XP_011520683.1:p.Gln1240Ter
XM_005255124.4:c.4426C>T XP_005255181.1:p.Gln1476Ter
XM_005255125.4:c.4054C>T XP_005255182.1:p.Gln1352Ter
XM_006720848.3:c.4210C>T XP_006720911.1:p.Gln1404Ter
XM_011522381.2:c.3718C>T XP_011520683.1:p.Gln1240Ter
XM_017022944.1:c.4465C>T XP_016878433.1:p.Gln1489Ter
NM_004380.3:c.4471C>T MANE Select NP_004371.2:p.Gln1491Ter