Canonical Allele Identifier: CA394550964
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs2151300059

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728068C>T , CM000678.2:g.3728068C>T GRCh38
NC_000016.9:g.3778069C>T , CM000678.1:g.3778069C>T GRCh37
NC_000016.8:g.3718070C>T NCBI36
NG_009873.1:g.157053G>A
NG_009873.2:g.157646G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6979G>A MANE Select ENSP00000262367.5:p.Ala2327Thr
ENST00000262367.9:c.6979G>A ENSP00000262367.5:p.Ala2327Thr
ENST00000382070.7:c.6865G>A ENSP00000371502.3:p.Ala2289Thr
NM_001079846.1:c.6865G>A NP_001073315.1:p.Ala2289Thr
NM_004380.2:c.6979G>A NP_004371.2:p.Ala2327Thr
XM_005255124.3:c.6934G>A XP_005255181.1:p.Ala2312Thr
XM_005255125.3:c.6562G>A XP_005255182.1:p.Ala2188Thr
XM_006720848.2:c.6718G>A XP_006720911.1:p.Ala2240Thr
XM_011522380.1:c.6925G>A XP_011520682.1:p.Ala2309Thr
XM_011522381.1:c.6226G>A XP_011520683.1:p.Ala2076Thr
XM_005255124.4:c.6934G>A XP_005255181.1:p.Ala2312Thr
XM_005255125.4:c.6562G>A XP_005255182.1:p.Ala2188Thr
XM_006720848.3:c.6718G>A XP_006720911.1:p.Ala2240Thr
XM_011522381.2:c.6226G>A XP_011520683.1:p.Ala2076Thr
XM_017022944.1:c.6973G>A XP_016878433.1:p.Ala2325Thr
NM_004380.3:c.6979G>A MANE Select NP_004371.2:p.Ala2327Thr