Canonical Allele Identifier: CA394553866
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs2151305398

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728824T>G , CM000678.2:g.3728824T>G GRCh38
NC_000016.9:g.3778825T>G , CM000678.1:g.3778825T>G GRCh37
NC_000016.8:g.3718826T>G NCBI36
NG_009873.1:g.156297A>C
NG_009873.2:g.156890A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6223A>C MANE Select ENSP00000262367.5:p.Lys2075Gln
ENST00000262367.9:c.6223A>C ENSP00000262367.5:p.Lys2075Gln
ENST00000382070.7:c.6109A>C ENSP00000371502.3:p.Lys2037Gln
NM_001079846.1:c.6109A>C NP_001073315.1:p.Lys2037Gln
NM_004380.2:c.6223A>C NP_004371.2:p.Lys2075Gln
XM_005255124.3:c.6178A>C XP_005255181.1:p.Lys2060Gln
XM_005255125.3:c.5806A>C XP_005255182.1:p.Lys1936Gln
XM_006720848.2:c.5962A>C XP_006720911.1:p.Lys1988Gln
XM_011522380.1:c.6169A>C XP_011520682.1:p.Lys2057Gln
XM_011522381.1:c.5470A>C XP_011520683.1:p.Lys1824Gln
XM_005255124.4:c.6178A>C XP_005255181.1:p.Lys2060Gln
XM_005255125.4:c.5806A>C XP_005255182.1:p.Lys1936Gln
XM_006720848.3:c.5962A>C XP_006720911.1:p.Lys1988Gln
XM_011522381.2:c.5470A>C XP_011520683.1:p.Lys1824Gln
XM_017022944.1:c.6217A>C XP_016878433.1:p.Lys2073Gln
NM_004380.3:c.6223A>C MANE Select NP_004371.2:p.Lys2075Gln