Canonical Allele Identifier: CA394557000
Gene: CREBBP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729661G>T , CM000678.2:g.3729661G>T GRCh38
NC_000016.9:g.3779662G>T , CM000678.1:g.3779662G>T GRCh37
NC_000016.8:g.3719663G>T NCBI36
NG_009873.1:g.155460C>A
NG_009873.2:g.156053C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5386C>A MANE Select ENSP00000262367.5:p.Gln1796Lys
ENST00000262367.9:c.5386C>A ENSP00000262367.5:p.Gln1796Lys
ENST00000382070.7:c.5272C>A ENSP00000371502.3:p.Gln1758Lys
NM_001079846.1:c.5272C>A NP_001073315.1:p.Gln1758Lys
NM_004380.2:c.5386C>A NP_004371.2:p.Gln1796Lys
XM_005255124.3:c.5341C>A XP_005255181.1:p.Gln1781Lys
XM_005255125.3:c.4969C>A XP_005255182.1:p.Gln1657Lys
XM_006720848.2:c.5125C>A XP_006720911.1:p.Gln1709Lys
XM_011522380.1:c.5332C>A XP_011520682.1:p.Gln1778Lys
XM_011522381.1:c.4633C>A XP_011520683.1:p.Gln1545Lys
XM_005255124.4:c.5341C>A XP_005255181.1:p.Gln1781Lys
XM_005255125.4:c.4969C>A XP_005255182.1:p.Gln1657Lys
XM_006720848.3:c.5125C>A XP_006720911.1:p.Gln1709Lys
XM_011522381.2:c.4633C>A XP_011520683.1:p.Gln1545Lys
XM_017022944.1:c.5380C>A XP_016878433.1:p.Gln1794Lys
NM_004380.3:c.5386C>A MANE Select NP_004371.2:p.Gln1796Lys