Canonical Allele Identifier: CA394551132
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs2051796138

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728104T>G , CM000678.2:g.3728104T>G GRCh38
NC_000016.9:g.3778105T>G , CM000678.1:g.3778105T>G GRCh37
NC_000016.8:g.3718106T>G NCBI36
NG_009873.1:g.157017A>C
NG_009873.2:g.157610A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6943A>C MANE Select ENSP00000262367.5:p.Ser2315Arg
ENST00000262367.9:c.6943A>C ENSP00000262367.5:p.Ser2315Arg
ENST00000382070.7:c.6829A>C ENSP00000371502.3:p.Ser2277Arg
NM_001079846.1:c.6829A>C NP_001073315.1:p.Ser2277Arg
NM_004380.2:c.6943A>C NP_004371.2:p.Ser2315Arg
XM_005255124.3:c.6898A>C XP_005255181.1:p.Ser2300Arg
XM_005255125.3:c.6526A>C XP_005255182.1:p.Ser2176Arg
XM_006720848.2:c.6682A>C XP_006720911.1:p.Ser2228Arg
XM_011522380.1:c.6889A>C XP_011520682.1:p.Ser2297Arg
XM_011522381.1:c.6190A>C XP_011520683.1:p.Ser2064Arg
XM_005255124.4:c.6898A>C XP_005255181.1:p.Ser2300Arg
XM_005255125.4:c.6526A>C XP_005255182.1:p.Ser2176Arg
XM_006720848.3:c.6682A>C XP_006720911.1:p.Ser2228Arg
XM_011522381.2:c.6190A>C XP_011520683.1:p.Ser2064Arg
XM_017022944.1:c.6937A>C XP_016878433.1:p.Ser2313Arg
NM_004380.3:c.6943A>C MANE Select NP_004371.2:p.Ser2315Arg