Canonical Allele Identifier: CA493394034
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs2151309809
MyVariant Identifiers: chr16:g.3779474G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729473G>T , CM000678.2:g.3729473G>T GRCh38
NC_000016.9:g.3779474G>T , CM000678.1:g.3779474G>T GRCh37
NC_000016.8:g.3719475G>T NCBI36
NG_009873.1:g.155648C>A
NG_009873.2:g.156241C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5574C>A MANE Select ENSP00000262367.5:p.Arg1858=
ENST00000262367.9:c.5574C>A ENSP00000262367.5:p.Arg1858=
ENST00000382070.7:c.5460C>A ENSP00000371502.3:p.Arg1820=
NM_001079846.1:c.5460C>A NP_001073315.1:p.Arg1820=
NM_004380.2:c.5574C>A NP_004371.2:p.Arg1858=
XM_005255124.3:c.5529C>A XP_005255181.1:p.Arg1843=
XM_005255125.3:c.5157C>A XP_005255182.1:p.Arg1719=
XM_006720848.2:c.5313C>A XP_006720911.1:p.Arg1771=
XM_011522380.1:c.5520C>A XP_011520682.1:p.Arg1840=
XM_011522381.1:c.4821C>A XP_011520683.1:p.Arg1607=
XM_005255124.4:c.5529C>A XP_005255181.1:p.Arg1843=
XM_005255125.4:c.5157C>A XP_005255182.1:p.Arg1719=
XM_006720848.3:c.5313C>A XP_006720911.1:p.Arg1771=
XM_011522381.2:c.4821C>A XP_011520683.1:p.Arg1607=
XM_017022944.1:c.5568C>A XP_016878433.1:p.Arg1856=
NM_004380.3:c.5574C>A MANE Select NP_004371.2:p.Arg1858=