Canonical Allele Identifier: CA493394282
Gene: CREBBP HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.3779099T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729098T>G , CM000678.2:g.3729098T>G GRCh38
NC_000016.9:g.3779099T>G , CM000678.1:g.3779099T>G GRCh37
NC_000016.8:g.3719100T>G NCBI36
NG_009873.1:g.156023A>C
NG_009873.2:g.156616A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5949A>C MANE Select ENSP00000262367.5:p.Pro1983=
ENST00000262367.9:c.5949A>C ENSP00000262367.5:p.Pro1983=
ENST00000382070.7:c.5835A>C ENSP00000371502.3:p.Pro1945=
NM_001079846.1:c.5835A>C NP_001073315.1:p.Pro1945=
NM_004380.2:c.5949A>C NP_004371.2:p.Pro1983=
XM_005255124.3:c.5904A>C XP_005255181.1:p.Pro1968=
XM_005255125.3:c.5532A>C XP_005255182.1:p.Pro1844=
XM_006720848.2:c.5688A>C XP_006720911.1:p.Pro1896=
XM_011522380.1:c.5895A>C XP_011520682.1:p.Pro1965=
XM_011522381.1:c.5196A>C XP_011520683.1:p.Pro1732=
XM_005255124.4:c.5904A>C XP_005255181.1:p.Pro1968=
XM_005255125.4:c.5532A>C XP_005255182.1:p.Pro1844=
XM_006720848.3:c.5688A>C XP_006720911.1:p.Pro1896=
XM_011522381.2:c.5196A>C XP_011520683.1:p.Pro1732=
XM_017022944.1:c.5943A>C XP_016878433.1:p.Pro1981=
NM_004380.3:c.5949A>C MANE Select NP_004371.2:p.Pro1983=