Canonical Allele Identifier: CA394553752
Gene: CREBBP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728775T>G , CM000678.2:g.3728775T>G GRCh38
NC_000016.9:g.3778776T>G , CM000678.1:g.3778776T>G GRCh37
NC_000016.8:g.3718777T>G NCBI36
NG_009873.1:g.156346A>C
NG_009873.2:g.156939A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6272A>C MANE Select ENSP00000262367.5:p.Lys2091Thr
ENST00000262367.9:c.6272A>C ENSP00000262367.5:p.Lys2091Thr
ENST00000382070.7:c.6158A>C ENSP00000371502.3:p.Lys2053Thr
NM_001079846.1:c.6158A>C NP_001073315.1:p.Lys2053Thr
NM_004380.2:c.6272A>C NP_004371.2:p.Lys2091Thr
XM_005255124.3:c.6227A>C XP_005255181.1:p.Lys2076Thr
XM_005255125.3:c.5855A>C XP_005255182.1:p.Lys1952Thr
XM_006720848.2:c.6011A>C XP_006720911.1:p.Lys2004Thr
XM_011522380.1:c.6218A>C XP_011520682.1:p.Lys2073Thr
XM_011522381.1:c.5519A>C XP_011520683.1:p.Lys1840Thr
XM_005255124.4:c.6227A>C XP_005255181.1:p.Lys2076Thr
XM_005255125.4:c.5855A>C XP_005255182.1:p.Lys1952Thr
XM_006720848.3:c.6011A>C XP_006720911.1:p.Lys2004Thr
XM_011522381.2:c.5519A>C XP_011520683.1:p.Lys1840Thr
XM_017022944.1:c.6266A>C XP_016878433.1:p.Lys2089Thr
NM_004380.3:c.6272A>C MANE Select NP_004371.2:p.Lys2091Thr