Canonical Allele Identifier: CA394554712
Gene: CREBBP HGNC NCBI

Linked Data

gnomAD v4: 16-3729060-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729060G>T , CM000678.2:g.3729060G>T GRCh38
NC_000016.9:g.3779061G>T , CM000678.1:g.3779061G>T GRCh37
NC_000016.8:g.3719062G>T NCBI36
NG_009873.1:g.156061C>A
NG_009873.2:g.156654C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5987C>A MANE Select ENSP00000262367.5:p.Ala1996Asp
ENST00000262367.9:c.5987C>A ENSP00000262367.5:p.Ala1996Asp
ENST00000382070.7:c.5873C>A ENSP00000371502.3:p.Ala1958Asp
NM_001079846.1:c.5873C>A NP_001073315.1:p.Ala1958Asp
NM_004380.2:c.5987C>A NP_004371.2:p.Ala1996Asp
XM_005255124.3:c.5942C>A XP_005255181.1:p.Ala1981Asp
XM_005255125.3:c.5570C>A XP_005255182.1:p.Ala1857Asp
XM_006720848.2:c.5726C>A XP_006720911.1:p.Ala1909Asp
XM_011522380.1:c.5933C>A XP_011520682.1:p.Ala1978Asp
XM_011522381.1:c.5234C>A XP_011520683.1:p.Ala1745Asp
XM_005255124.4:c.5942C>A XP_005255181.1:p.Ala1981Asp
XM_005255125.4:c.5570C>A XP_005255182.1:p.Ala1857Asp
XM_006720848.3:c.5726C>A XP_006720911.1:p.Ala1909Asp
XM_011522381.2:c.5234C>A XP_011520683.1:p.Ala1745Asp
XM_017022944.1:c.5981C>A XP_016878433.1:p.Ala1994Asp
NM_004380.3:c.5987C>A MANE Select NP_004371.2:p.Ala1996Asp