Canonical Allele Identifier: CA2202936229
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3736375C= , CM000678.2:g.3736375C= GRCh38
NC_000016.9:g.3786376C= , CM000678.1:g.3786376C= GRCh37
NC_000016.8:g.3726377C= NCBI36
NG_009873.1:g.148746G=
NG_009873.2:g.149339G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.4561-172G= MANE Select ENSP00000262367.5:n.4561-172G=
ENST00000262367.9:c.4561-172G= ENSP00000262367.5:n.4561-172G=
ENST00000382070.7:c.4447-172G= ENSP00000371502.3:n.4447-172G=
ENST00000570939.2:c.3196-172G= ENSP00000461002.2:n.3196-172G=
ENST00000571763.5:n.351-172G=
ENST00000576720.1:n.3384-172G=
NM_001079846.1:c.4447-172G= NP_001073315.1:n.4447-172G=
NM_004380.2:c.4561-172G= NP_004371.2:n.4561-172G=
XM_005255124.3:c.4516-172G= XP_005255181.1:n.4516-172G=
XM_005255125.3:c.4144-172G= XP_005255182.1:n.4144-172G=
XM_006720848.2:c.4300-172G= XP_006720911.1:n.4300-172G=
XM_011522380.1:c.4507-172G= XP_011520682.1:n.4507-172G=
XM_011522381.1:c.3808-172G= XP_011520683.1:n.3808-172G=
XM_005255124.4:c.4516-172G= XP_005255181.1:n.4516-172G=
XM_005255125.4:c.4144-172G= XP_005255182.1:n.4144-172G=
XM_006720848.3:c.4300-172G= XP_006720911.1:n.4300-172G=
XM_011522381.2:c.3808-172G= XP_011520683.1:n.3808-172G=
XM_017022944.1:c.4555-172G= XP_016878433.1:n.4555-172G=
NM_004380.3:c.4561-172G= MANE Select NP_004371.2:n.4561-172G=