Canonical Allele Identifier: CA2202929965
Community Standard Title: NM_004380.3(CREBBP):c.5050T= (p.Ser1684=)
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3731314A= , CM000678.2:g.3731314A= GRCh38
NC_000016.9:g.3781315A= , CM000678.1:g.3781315A= GRCh37
NC_000016.8:g.3721316A= NCBI36
NG_009873.1:g.153807T=
NG_009873.2:g.154400T=

Transcript Alleles

HGVS Amino-acid Change
NM_004380.3:c.5050T= MANE Select NP_004371.2:p.Ser1684=
ENST00000262367.10:c.5050T= MANE Select ENSP00000262367.5:p.Ser1684=
NM_001079846.1:c.4936T= NP_001073315.1:p.Ser1646=
NM_004380.2:c.5050T= NP_004371.2:p.Ser1684=
ENST00000262367.9:c.5050T= ENSP00000262367.5:p.Ser1684=
ENST00000382070.7:c.4936T= ENSP00000371502.3:p.Ser1646=
XM_005255124.3:c.5005T= XP_005255181.1:p.Ser1669=
XM_005255124.4:c.5005T= XP_005255181.1:p.Ser1669=
XM_005255125.3:c.4633T= XP_005255182.1:p.Ser1545=
XM_005255125.4:c.4633T= XP_005255182.1:p.Ser1545=
XM_006720848.2:c.4789T= XP_006720911.1:p.Ser1597=
XM_006720848.3:c.4789T= XP_006720911.1:p.Ser1597=
XM_011522380.1:c.4996T= XP_011520682.1:p.Ser1666=
XM_011522381.1:c.4297T= XP_011520683.1:p.Ser1433=
XM_011522381.2:c.4297T= XP_011520683.1:p.Ser1433=
XM_017022944.1:c.5044T= XP_016878433.1:p.Ser1682=