Canonical Allele Identifier: CA394557663
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs2151312491

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729835G>C , CM000678.2:g.3729835G>C GRCh38
NC_000016.9:g.3779836G>C , CM000678.1:g.3779836G>C GRCh37
NC_000016.8:g.3719837G>C NCBI36
NG_009873.1:g.155286C>G
NG_009873.2:g.155879C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5212C>G MANE Select ENSP00000262367.5:p.His1738Asp
ENST00000262367.9:c.5212C>G ENSP00000262367.5:p.His1738Asp
ENST00000382070.7:c.5098C>G ENSP00000371502.3:p.His1700Asp
NM_001079846.1:c.5098C>G NP_001073315.1:p.His1700Asp
NM_004380.2:c.5212C>G NP_004371.2:p.His1738Asp
XM_005255124.3:c.5167C>G XP_005255181.1:p.His1723Asp
XM_005255125.3:c.4795C>G XP_005255182.1:p.His1599Asp
XM_006720848.2:c.4951C>G XP_006720911.1:p.His1651Asp
XM_011522380.1:c.5158C>G XP_011520682.1:p.His1720Asp
XM_011522381.1:c.4459C>G XP_011520683.1:p.His1487Asp
XM_005255124.4:c.5167C>G XP_005255181.1:p.His1723Asp
XM_005255125.4:c.4795C>G XP_005255182.1:p.His1599Asp
XM_006720848.3:c.4951C>G XP_006720911.1:p.His1651Asp
XM_011522381.2:c.4459C>G XP_011520683.1:p.His1487Asp
XM_017022944.1:c.5206C>G XP_016878433.1:p.His1736Asp
NM_004380.3:c.5212C>G MANE Select NP_004371.2:p.His1738Asp