Canonical Allele Identifier: CA2202936530
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3736643C= , CM000678.2:g.3736643C= GRCh38
NC_000016.9:g.3786644C= , CM000678.1:g.3786644C= GRCh37
NC_000016.8:g.3726645C= NCBI36
NG_009873.1:g.148478G=
NG_009873.2:g.149071G=

Transcript Alleles

HGVS Amino-acid change
ENST00000262367.10:c.4560+7G= MANE Select ENSP00000262367.5:n.4560+7G=
ENST00000262367.9:c.4560+7G= ENSP00000262367.5:n.4560+7G=
ENST00000382070.7:c.4446+7G= ENSP00000371502.3:n.4446+7G=
ENST00000570939.2:c.3195+7G= ENSP00000461002.2:n.3195+7G=
ENST00000571763.5:n.350+7G=
ENST00000574740.1:n.388G=
ENST00000576720.1:n.3383+7G=
NM_001079846.1:c.4446+7G= NP_001073315.1:n.4446+7G=
NM_004380.2:c.4560+7G= NP_004371.2:n.4560+7G=
XM_005255124.3:c.4515+7G= XP_005255181.1:n.4515+7G=
XM_005255125.3:c.4143+7G= XP_005255182.1:n.4143+7G=
XM_006720848.2:c.4299+7G= XP_006720911.1:n.4299+7G=
XM_011522380.1:c.4506+7G= XP_011520682.1:n.4506+7G=
XM_011522381.1:c.3807+7G= XP_011520683.1:n.3807+7G=
XM_005255124.4:c.4515+7G= XP_005255181.1:n.4515+7G=
XM_005255125.4:c.4143+7G= XP_005255182.1:n.4143+7G=
XM_006720848.3:c.4299+7G= XP_006720911.1:n.4299+7G=
XM_011522381.2:c.3807+7G= XP_011520683.1:n.3807+7G=
XM_017022944.1:c.4554+7G= XP_016878433.1:n.4554+7G=
NM_004380.3:c.4560+7G= MANE Select NP_004371.2:n.4560+7G=