Canonical Allele Identifier: CA394554084
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs2151305869

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728904A>G , CM000678.2:g.3728904A>G GRCh38
NC_000016.9:g.3778905A>G , CM000678.1:g.3778905A>G GRCh37
NC_000016.8:g.3718906A>G NCBI36
NG_009873.1:g.156217T>C
NG_009873.2:g.156810T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6143T>C MANE Select ENSP00000262367.5:p.Val2048Ala
ENST00000262367.9:c.6143T>C ENSP00000262367.5:p.Val2048Ala
ENST00000382070.7:c.6029T>C ENSP00000371502.3:p.Val2010Ala
NM_001079846.1:c.6029T>C NP_001073315.1:p.Val2010Ala
NM_004380.2:c.6143T>C NP_004371.2:p.Val2048Ala
XM_005255124.3:c.6098T>C XP_005255181.1:p.Val2033Ala
XM_005255125.3:c.5726T>C XP_005255182.1:p.Val1909Ala
XM_006720848.2:c.5882T>C XP_006720911.1:p.Val1961Ala
XM_011522380.1:c.6089T>C XP_011520682.1:p.Val2030Ala
XM_011522381.1:c.5390T>C XP_011520683.1:p.Val1797Ala
XM_005255124.4:c.6098T>C XP_005255181.1:p.Val2033Ala
XM_005255125.4:c.5726T>C XP_005255182.1:p.Val1909Ala
XM_006720848.3:c.5882T>C XP_006720911.1:p.Val1961Ala
XM_011522381.2:c.5390T>C XP_011520683.1:p.Val1797Ala
XM_017022944.1:c.6137T>C XP_016878433.1:p.Val2046Ala
NM_004380.3:c.6143T>C MANE Select NP_004371.2:p.Val2048Ala