Canonical Allele Identifier: CA271386
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3758913G>A , CM000678.2:g.3758913G>A GRCh38
NC_000016.9:g.3808914G>A , CM000678.1:g.3808914G>A GRCh37
NC_000016.8:g.3748915G>A NCBI36
NG_009873.1:g.126208C>T
NG_009873.2:g.126801C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.3310C>T MANE Select ENSP00000262367.5:p.Gln1104Ter
ENST00000262367.9:c.3310C>T ENSP00000262367.5:p.Gln1104Ter
ENST00000382070.7:c.3196C>T ENSP00000371502.3:p.Gln1066Ter
ENST00000570939.2:c.1915C>T ENSP00000461002.2:p.Gln639Ter
NM_001079846.1:c.3196C>T NP_001073315.1:p.Gln1066Ter
NM_004380.2:c.3310C>T NP_004371.2:p.Gln1104Ter
XM_005255124.3:c.3265C>T XP_005255181.1:p.Gln1089Ter
XM_005255125.3:c.2893C>T XP_005255182.1:p.Gln965Ter
XM_006720848.2:c.3310C>T XP_006720911.1:p.Gln1104Ter
XM_011522380.1:c.3256C>T XP_011520682.1:p.Gln1086Ter
XM_011522381.1:c.2557C>T XP_011520683.1:p.Gln853Ter
XM_011522382.1:c.3310C>T XP_011520684.1:p.Gln1104Ter
XM_005255124.4:c.3265C>T XP_005255181.1:p.Gln1089Ter
XM_005255125.4:c.2893C>T XP_005255182.1:p.Gln965Ter
XM_006720848.3:c.3310C>T XP_006720911.1:p.Gln1104Ter
XM_011522381.2:c.2557C>T XP_011520683.1:p.Gln853Ter
XM_011522382.3:c.3310C>T XP_011520684.1:p.Gln1104Ter
XM_017022944.1:c.3304C>T XP_016878433.1:p.Gln1102Ter
NM_004380.3:c.3310C>T MANE Select NP_004371.2:p.Gln1104Ter