Canonical Allele Identifier: CA271436
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 158394
ClinVar RCV Id: RCV000145775
dbSNP Id: rs587783510
gnomAD v4: 16-3728959-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728959G>A , CM000678.2:g.3728959G>A GRCh38
NC_000016.9:g.3778960G>A , CM000678.1:g.3778960G>A GRCh37
NC_000016.8:g.3718961G>A NCBI36
NG_009873.1:g.156162C>T
NG_009873.2:g.156755C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6088C>T MANE Select ENSP00000262367.5:p.Gln2030Ter
ENST00000262367.9:c.6088C>T ENSP00000262367.5:p.Gln2030Ter
ENST00000382070.7:c.5974C>T ENSP00000371502.3:p.Gln1992Ter
NM_001079846.1:c.5974C>T NP_001073315.1:p.Gln1992Ter
NM_004380.2:c.6088C>T NP_004371.2:p.Gln2030Ter
XM_005255124.3:c.6043C>T XP_005255181.1:p.Gln2015Ter
XM_005255125.3:c.5671C>T XP_005255182.1:p.Gln1891Ter
XM_006720848.2:c.5827C>T XP_006720911.1:p.Gln1943Ter
XM_011522380.1:c.6034C>T XP_011520682.1:p.Gln2012Ter
XM_011522381.1:c.5335C>T XP_011520683.1:p.Gln1779Ter
XM_005255124.4:c.6043C>T XP_005255181.1:p.Gln2015Ter
XM_005255125.4:c.5671C>T XP_005255182.1:p.Gln1891Ter
XM_006720848.3:c.5827C>T XP_006720911.1:p.Gln1943Ter
XM_011522381.2:c.5335C>T XP_011520683.1:p.Gln1779Ter
XM_017022944.1:c.6082C>T XP_016878433.1:p.Gln2028Ter
NM_004380.3:c.6088C>T MANE Select NP_004371.2:p.Gln2030Ter