Canonical Allele Identifier: CA394550401
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs2151298849

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3727882C>A , CM000678.2:g.3727882C>A GRCh38
NC_000016.9:g.3777883C>A , CM000678.1:g.3777883C>A GRCh37
NC_000016.8:g.3717884C>A NCBI36
NG_009873.1:g.157239G>T
NG_009873.2:g.157832G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.7165G>T MANE Select ENSP00000262367.5:p.Val2389Phe
ENST00000262367.9:c.7165G>T ENSP00000262367.5:p.Val2389Phe
ENST00000382070.7:c.7051G>T ENSP00000371502.3:p.Val2351Phe
NM_001079846.1:c.7051G>T NP_001073315.1:p.Val2351Phe
NM_004380.2:c.7165G>T NP_004371.2:p.Val2389Phe
XM_005255124.3:c.7120G>T XP_005255181.1:p.Val2374Phe
XM_005255125.3:c.6748G>T XP_005255182.1:p.Val2250Phe
XM_006720848.2:c.6904G>T XP_006720911.1:p.Val2302Phe
XM_011522380.1:c.7111G>T XP_011520682.1:p.Val2371Phe
XM_011522381.1:c.6412G>T XP_011520683.1:p.Val2138Phe
XM_005255124.4:c.7120G>T XP_005255181.1:p.Val2374Phe
XM_005255125.4:c.6748G>T XP_005255182.1:p.Val2250Phe
XM_006720848.3:c.6904G>T XP_006720911.1:p.Val2302Phe
XM_011522381.2:c.6412G>T XP_011520683.1:p.Val2138Phe
XM_017022944.1:c.7159G>T XP_016878433.1:p.Val2387Phe
NM_004380.3:c.7165G>T MANE Select NP_004371.2:p.Val2389Phe