Canonical Allele Identifier: CA394560520
Gene: CREBBP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3792000A>C , CM000678.2:g.3792000A>C GRCh38
NC_000016.9:g.3842001A>C , CM000678.1:g.3842001A>C GRCh37
NC_000016.8:g.3782002A>C NCBI36
NG_009873.1:g.93121T>G
NG_009873.2:g.93714T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.1311T>G MANE Select ENSP00000262367.5:p.Ser437Arg
ENST00000262367.9:c.1311T>G ENSP00000262367.5:p.Ser437Arg
ENST00000382070.7:c.1216+1386T>G ENSP00000371502.3:n.1216+1386T>G
NM_001079846.1:c.1216+1386T>G NP_001073315.1:n.1216+1386T>G
NM_004380.2:c.1311T>G NP_004371.2:p.Ser437Arg
XM_005255124.3:c.1311T>G XP_005255181.1:p.Ser437Arg
XM_005255125.3:c.1311T>G XP_005255182.1:p.Ser437Arg
XM_006720848.2:c.1311T>G XP_006720911.1:p.Ser437Arg
XM_011522380.1:c.1257T>G XP_011520682.1:p.Ser419Arg
XM_011522381.1:c.558T>G XP_011520683.1:p.Ser186Arg
XM_011522382.1:c.1311T>G XP_011520684.1:p.Ser437Arg
XM_005255124.4:c.1311T>G XP_005255181.1:p.Ser437Arg
XM_005255125.4:c.1311T>G XP_005255182.1:p.Ser437Arg
XM_006720848.3:c.1311T>G XP_006720911.1:p.Ser437Arg
XM_011522381.2:c.558T>G XP_011520683.1:p.Ser186Arg
XM_011522382.3:c.1311T>G XP_011520684.1:p.Ser437Arg
XM_017022944.1:c.1311T>G XP_016878433.1:p.Ser437Arg
NM_004380.3:c.1311T>G MANE Select NP_004371.2:p.Ser437Arg