Canonical Allele Identifier: CA394550956
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs2151300034

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728065A>T , CM000678.2:g.3728065A>T GRCh38
NC_000016.9:g.3778066A>T , CM000678.1:g.3778066A>T GRCh37
NC_000016.8:g.3718067A>T NCBI36
NG_009873.1:g.157056T>A
NG_009873.2:g.157649T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6982T>A MANE Select ENSP00000262367.5:p.Ser2328Thr
ENST00000262367.9:c.6982T>A ENSP00000262367.5:p.Ser2328Thr
ENST00000382070.7:c.6868T>A ENSP00000371502.3:p.Ser2290Thr
NM_001079846.1:c.6868T>A NP_001073315.1:p.Ser2290Thr
NM_004380.2:c.6982T>A NP_004371.2:p.Ser2328Thr
XM_005255124.3:c.6937T>A XP_005255181.1:p.Ser2313Thr
XM_005255125.3:c.6565T>A XP_005255182.1:p.Ser2189Thr
XM_006720848.2:c.6721T>A XP_006720911.1:p.Ser2241Thr
XM_011522380.1:c.6928T>A XP_011520682.1:p.Ser2310Thr
XM_011522381.1:c.6229T>A XP_011520683.1:p.Ser2077Thr
XM_005255124.4:c.6937T>A XP_005255181.1:p.Ser2313Thr
XM_005255125.4:c.6565T>A XP_005255182.1:p.Ser2189Thr
XM_006720848.3:c.6721T>A XP_006720911.1:p.Ser2241Thr
XM_011522381.2:c.6229T>A XP_011520683.1:p.Ser2077Thr
XM_017022944.1:c.6976T>A XP_016878433.1:p.Ser2326Thr
NM_004380.3:c.6982T>A MANE Select NP_004371.2:p.Ser2328Thr