Canonical Allele Identifier: CA394554263
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs1596784872
gnomAD v4: 16-3728956-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728956G>T , CM000678.2:g.3728956G>T GRCh38
NC_000016.9:g.3778957G>T , CM000678.1:g.3778957G>T GRCh37
NC_000016.8:g.3718958G>T NCBI36
NG_009873.1:g.156165C>A
NG_009873.2:g.156758C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6091C>A MANE Select ENSP00000262367.5:p.Pro2031Thr
ENST00000262367.9:c.6091C>A ENSP00000262367.5:p.Pro2031Thr
ENST00000382070.7:c.5977C>A ENSP00000371502.3:p.Pro1993Thr
NM_001079846.1:c.5977C>A NP_001073315.1:p.Pro1993Thr
NM_004380.2:c.6091C>A NP_004371.2:p.Pro2031Thr
XM_005255124.3:c.6046C>A XP_005255181.1:p.Pro2016Thr
XM_005255125.3:c.5674C>A XP_005255182.1:p.Pro1892Thr
XM_006720848.2:c.5830C>A XP_006720911.1:p.Pro1944Thr
XM_011522380.1:c.6037C>A XP_011520682.1:p.Pro2013Thr
XM_011522381.1:c.5338C>A XP_011520683.1:p.Pro1780Thr
XM_005255124.4:c.6046C>A XP_005255181.1:p.Pro2016Thr
XM_005255125.4:c.5674C>A XP_005255182.1:p.Pro1892Thr
XM_006720848.3:c.5830C>A XP_006720911.1:p.Pro1944Thr
XM_011522381.2:c.5338C>A XP_011520683.1:p.Pro1780Thr
XM_017022944.1:c.6085C>A XP_016878433.1:p.Pro2029Thr
NM_004380.3:c.6091C>A MANE Select NP_004371.2:p.Pro2031Thr