Canonical Allele Identifier: CA2202953594
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3791968C= , CM000678.2:g.3791968C= GRCh38
NC_000016.9:g.3841969C= , CM000678.1:g.3841969C= GRCh37
NC_000016.8:g.3781970C= NCBI36
NG_009873.1:g.93153G=
NG_009873.2:g.93746G=

Transcript Alleles

HGVS Amino-acid change
ENST00000262367.10:c.1330+13G= MANE Select ENSP00000262367.5:n.1330+13G=
ENST00000262367.9:c.1330+13G= ENSP00000262367.5:n.1330+13G=
ENST00000382070.7:c.1216+1418G= ENSP00000371502.3:n.1216+1418G=
NM_001079846.1:c.1216+1418G= NP_001073315.1:n.1216+1418G=
NM_004380.2:c.1330+13G= NP_004371.2:n.1330+13G=
XM_005255124.3:c.1330+13G= XP_005255181.1:n.1330+13G=
XM_005255125.3:c.1330+13G= XP_005255182.1:n.1330+13G=
XM_006720848.2:c.1330+13G= XP_006720911.1:n.1330+13G=
XM_011522380.1:c.1276+13G= XP_011520682.1:n.1276+13G=
XM_011522381.1:c.577+13G= XP_011520683.1:n.577+13G=
XM_011522382.1:c.1330+13G= XP_011520684.1:n.1330+13G=
XM_005255124.4:c.1330+13G= XP_005255181.1:n.1330+13G=
XM_005255125.4:c.1330+13G= XP_005255182.1:n.1330+13G=
XM_006720848.3:c.1330+13G= XP_006720911.1:n.1330+13G=
XM_011522381.2:c.577+13G= XP_011520683.1:n.577+13G=
XM_011522382.3:c.1330+13G= XP_011520684.1:n.1330+13G=
XM_017022944.1:c.1330+13G= XP_016878433.1:n.1330+13G=
NM_004380.3:c.1330+13G= MANE Select NP_004371.2:n.1330+13G=