Canonical Allele Identifier: CA493393651
Gene: CREBBP HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.3778763C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728762C>T , CM000678.2:g.3728762C>T GRCh38
NC_000016.9:g.3778763C>T , CM000678.1:g.3778763C>T GRCh37
NC_000016.8:g.3718764C>T NCBI36
NG_009873.1:g.156359G>A
NG_009873.2:g.156952G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6285G>A MANE Select ENSP00000262367.5:p.Gln2095=
ENST00000262367.9:c.6285G>A ENSP00000262367.5:p.Gln2095=
ENST00000382070.7:c.6171G>A ENSP00000371502.3:p.Gln2057=
NM_001079846.1:c.6171G>A NP_001073315.1:p.Gln2057=
NM_004380.2:c.6285G>A NP_004371.2:p.Gln2095=
XM_005255124.3:c.6240G>A XP_005255181.1:p.Gln2080=
XM_005255125.3:c.5868G>A XP_005255182.1:p.Gln1956=
XM_006720848.2:c.6024G>A XP_006720911.1:p.Gln2008=
XM_011522380.1:c.6231G>A XP_011520682.1:p.Gln2077=
XM_011522381.1:c.5532G>A XP_011520683.1:p.Gln1844=
XM_005255124.4:c.6240G>A XP_005255181.1:p.Gln2080=
XM_005255125.4:c.5868G>A XP_005255182.1:p.Gln1956=
XM_006720848.3:c.6024G>A XP_006720911.1:p.Gln2008=
XM_011522381.2:c.5532G>A XP_011520683.1:p.Gln1844=
XM_017022944.1:c.6279G>A XP_016878433.1:p.Gln2093=
NM_004380.3:c.6285G>A MANE Select NP_004371.2:p.Gln2095=