Canonical Allele Identifier: CA394559302
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs761381106

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3850353G>T , CM000678.2:g.3850353G>T GRCh38
NC_000016.9:g.3900354G>T , CM000678.1:g.3900354G>T GRCh37
NC_000016.8:g.3840355G>T NCBI36
NG_009873.1:g.34768C>A
NG_009873.2:g.35361C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.742C>A MANE Select ENSP00000262367.5:p.Pro248Thr
ENST00000262367.9:c.742C>A ENSP00000262367.5:p.Pro248Thr
ENST00000382070.7:c.742C>A ENSP00000371502.3:p.Pro248Thr
NM_001079846.1:c.742C>A NP_001073315.1:p.Pro248Thr
NM_004380.2:c.742C>A NP_004371.2:p.Pro248Thr
XM_005255124.3:c.742C>A XP_005255181.1:p.Pro248Thr
XM_005255125.3:c.742C>A XP_005255182.1:p.Pro248Thr
XM_006720848.2:c.742C>A XP_006720911.1:p.Pro248Thr
XM_011522380.1:c.688C>A XP_011520682.1:p.Pro230Thr
XM_011522382.1:c.742C>A XP_011520684.1:p.Pro248Thr
XM_005255124.4:c.742C>A XP_005255181.1:p.Pro248Thr
XM_005255125.4:c.742C>A XP_005255182.1:p.Pro248Thr
XM_006720848.3:c.742C>A XP_006720911.1:p.Pro248Thr
XM_011522382.3:c.742C>A XP_011520684.1:p.Pro248Thr
XM_017022944.1:c.742C>A XP_016878433.1:p.Pro248Thr
NM_004380.3:c.742C>A MANE Select NP_004371.2:p.Pro248Thr