Canonical Allele Identifier: CA2202916432
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729498A= , CM000678.2:g.3729498A= GRCh38
NC_000016.9:g.3779499A= , CM000678.1:g.3779499A= GRCh37
NC_000016.8:g.3719500A= NCBI36
NG_009873.1:g.155623T=
NG_009873.2:g.156216T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5549T= MANE Select ENSP00000262367.5:p.Leu1850=
ENST00000262367.9:c.5549T= ENSP00000262367.5:p.Leu1850=
ENST00000382070.7:c.5435T= ENSP00000371502.3:p.Leu1812=
NM_001079846.1:c.5435T= NP_001073315.1:p.Leu1812=
NM_004380.2:c.5549T= NP_004371.2:p.Leu1850=
XM_005255124.3:c.5504T= XP_005255181.1:p.Leu1835=
XM_005255125.3:c.5132T= XP_005255182.1:p.Leu1711=
XM_006720848.2:c.5288T= XP_006720911.1:p.Leu1763=
XM_011522380.1:c.5495T= XP_011520682.1:p.Leu1832=
XM_011522381.1:c.4796T= XP_011520683.1:p.Leu1599=
XM_005255124.4:c.5504T= XP_005255181.1:p.Leu1835=
XM_005255125.4:c.5132T= XP_005255182.1:p.Leu1711=
XM_006720848.3:c.5288T= XP_006720911.1:p.Leu1763=
XM_011522381.2:c.4796T= XP_011520683.1:p.Leu1599=
XM_017022944.1:c.5543T= XP_016878433.1:p.Leu1848=
NM_004380.3:c.5549T= MANE Select NP_004371.2:p.Leu1850=