Canonical Allele Identifier: CA2202916511
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729737C= , CM000678.2:g.3729737C= GRCh38
NC_000016.9:g.3779738C= , CM000678.1:g.3779738C= GRCh37
NC_000016.8:g.3719739C= NCBI36
NG_009873.1:g.155384G=
NG_009873.2:g.155977G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5310G= MANE Select ENSP00000262367.5:p.Leu1770=
ENST00000262367.9:c.5310G= ENSP00000262367.5:p.Leu1770=
ENST00000382070.7:c.5196G= ENSP00000371502.3:p.Leu1732=
NM_001079846.1:c.5196G= NP_001073315.1:p.Leu1732=
NM_004380.2:c.5310G= NP_004371.2:p.Leu1770=
XM_005255124.3:c.5265G= XP_005255181.1:p.Leu1755=
XM_005255125.3:c.4893G= XP_005255182.1:p.Leu1631=
XM_006720848.2:c.5049G= XP_006720911.1:p.Leu1683=
XM_011522380.1:c.5256G= XP_011520682.1:p.Leu1752=
XM_011522381.1:c.4557G= XP_011520683.1:p.Leu1519=
XM_005255124.4:c.5265G= XP_005255181.1:p.Leu1755=
XM_005255125.4:c.4893G= XP_005255182.1:p.Leu1631=
XM_006720848.3:c.5049G= XP_006720911.1:p.Leu1683=
XM_011522381.2:c.4557G= XP_011520683.1:p.Leu1519=
XM_017022944.1:c.5304G= XP_016878433.1:p.Leu1768=
NM_004380.3:c.5310G= MANE Select NP_004371.2:p.Leu1770=