Canonical Allele Identifier: CA394550696
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs2151299626

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728001A>C , CM000678.2:g.3728001A>C GRCh38
NC_000016.9:g.3778002A>C , CM000678.1:g.3778002A>C GRCh37
NC_000016.8:g.3718003A>C NCBI36
NG_009873.1:g.157120T>G
NG_009873.2:g.157713T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.7046T>G MANE Select ENSP00000262367.5:p.Val2349Gly
ENST00000262367.9:c.7046T>G ENSP00000262367.5:p.Val2349Gly
ENST00000382070.7:c.6932T>G ENSP00000371502.3:p.Val2311Gly
NM_001079846.1:c.6932T>G NP_001073315.1:p.Val2311Gly
NM_004380.2:c.7046T>G NP_004371.2:p.Val2349Gly
XM_005255124.3:c.7001T>G XP_005255181.1:p.Val2334Gly
XM_005255125.3:c.6629T>G XP_005255182.1:p.Val2210Gly
XM_006720848.2:c.6785T>G XP_006720911.1:p.Val2262Gly
XM_011522380.1:c.6992T>G XP_011520682.1:p.Val2331Gly
XM_011522381.1:c.6293T>G XP_011520683.1:p.Val2098Gly
XM_005255124.4:c.7001T>G XP_005255181.1:p.Val2334Gly
XM_005255125.4:c.6629T>G XP_005255182.1:p.Val2210Gly
XM_006720848.3:c.6785T>G XP_006720911.1:p.Val2262Gly
XM_011522381.2:c.6293T>G XP_011520683.1:p.Val2098Gly
XM_017022944.1:c.7040T>G XP_016878433.1:p.Val2347Gly
NM_004380.3:c.7046T>G MANE Select NP_004371.2:p.Val2349Gly