Canonical Allele Identifier: CA493394095
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs2151310113
MyVariant Identifiers: chr16:g.3779516G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729515G>C , CM000678.2:g.3729515G>C GRCh38
NC_000016.9:g.3779516G>C , CM000678.1:g.3779516G>C GRCh37
NC_000016.8:g.3719517G>C NCBI36
NG_009873.1:g.155606C>G
NG_009873.2:g.156199C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5532C>G MANE Select ENSP00000262367.5:p.Leu1844=
ENST00000262367.9:c.5532C>G ENSP00000262367.5:p.Leu1844=
ENST00000382070.7:c.5418C>G ENSP00000371502.3:p.Leu1806=
NM_001079846.1:c.5418C>G NP_001073315.1:p.Leu1806=
NM_004380.2:c.5532C>G NP_004371.2:p.Leu1844=
XM_005255124.3:c.5487C>G XP_005255181.1:p.Leu1829=
XM_005255125.3:c.5115C>G XP_005255182.1:p.Leu1705=
XM_006720848.2:c.5271C>G XP_006720911.1:p.Leu1757=
XM_011522380.1:c.5478C>G XP_011520682.1:p.Leu1826=
XM_011522381.1:c.4779C>G XP_011520683.1:p.Leu1593=
XM_005255124.4:c.5487C>G XP_005255181.1:p.Leu1829=
XM_005255125.4:c.5115C>G XP_005255182.1:p.Leu1705=
XM_006720848.3:c.5271C>G XP_006720911.1:p.Leu1757=
XM_011522381.2:c.4779C>G XP_011520683.1:p.Leu1593=
XM_017022944.1:c.5526C>G XP_016878433.1:p.Leu1842=
NM_004380.3:c.5532C>G MANE Select NP_004371.2:p.Leu1844=