Canonical Allele Identifier: CA2202939786
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3739585T= , CM000678.2:g.3739585T= GRCh38
NC_000016.9:g.3789586T= , CM000678.1:g.3789586T= GRCh37
NC_000016.8:g.3729587T= NCBI36
NG_009873.1:g.145536A=
NG_009873.2:g.146129A=

Transcript Alleles

HGVS Amino-acid change
ENST00000262367.10:c.4273A= MANE Select ENSP00000262367.5:p.Asn1425=
ENST00000262367.9:c.4273A= ENSP00000262367.5:p.Asn1425=
ENST00000382070.7:c.4159A= ENSP00000371502.3:p.Asn1387=
ENST00000570939.2:c.2908A= ENSP00000461002.2:p.Asn970=
ENST00000573517.6:c.579A=
ENST00000574740.1:n.215+814A=
ENST00000576720.1:n.3210A=
NM_001079846.1:c.4159A= NP_001073315.1:p.Asn1387=
NM_004380.2:c.4273A= NP_004371.2:p.Asn1425=
XM_005255124.3:c.4228A= XP_005255181.1:p.Asn1410=
XM_005255125.3:c.3856A= XP_005255182.1:p.Asn1286=
XM_006720848.2:c.4133+814A= XP_006720911.1:n.4133+814A=
XM_011522380.1:c.4219A= XP_011520682.1:p.Asn1407=
XM_011522381.1:c.3520A= XP_011520683.1:p.Asn1174=
XM_005255124.4:c.4228A= XP_005255181.1:p.Asn1410=
XM_005255125.4:c.3856A= XP_005255182.1:p.Asn1286=
XM_006720848.3:c.4133+814A= XP_006720911.1:n.4133+814A=
XM_011522381.2:c.3520A= XP_011520683.1:p.Asn1174=
XM_017022944.1:c.4267A= XP_016878433.1:p.Asn1423=
NM_004380.3:c.4273A= MANE Select NP_004371.2:p.Asn1425=