Canonical Allele Identifier: CA394553917
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs1479729612

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728851C>G , CM000678.2:g.3728851C>G GRCh38
NC_000016.9:g.3778852C>G , CM000678.1:g.3778852C>G GRCh37
NC_000016.8:g.3718853C>G NCBI36
NG_009873.1:g.156270G>C
NG_009873.2:g.156863G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6196G>C MANE Select ENSP00000262367.5:p.Ala2066Pro
ENST00000262367.9:c.6196G>C ENSP00000262367.5:p.Ala2066Pro
ENST00000382070.7:c.6082G>C ENSP00000371502.3:p.Ala2028Pro
NM_001079846.1:c.6082G>C NP_001073315.1:p.Ala2028Pro
NM_004380.2:c.6196G>C NP_004371.2:p.Ala2066Pro
XM_005255124.3:c.6151G>C XP_005255181.1:p.Ala2051Pro
XM_005255125.3:c.5779G>C XP_005255182.1:p.Ala1927Pro
XM_006720848.2:c.5935G>C XP_006720911.1:p.Ala1979Pro
XM_011522380.1:c.6142G>C XP_011520682.1:p.Ala2048Pro
XM_011522381.1:c.5443G>C XP_011520683.1:p.Ala1815Pro
XM_005255124.4:c.6151G>C XP_005255181.1:p.Ala2051Pro
XM_005255125.4:c.5779G>C XP_005255182.1:p.Ala1927Pro
XM_006720848.3:c.5935G>C XP_006720911.1:p.Ala1979Pro
XM_011522381.2:c.5443G>C XP_011520683.1:p.Ala1815Pro
XM_017022944.1:c.6190G>C XP_016878433.1:p.Ala2064Pro
NM_004380.3:c.6196G>C MANE Select NP_004371.2:p.Ala2066Pro