Canonical Allele Identifier: CA493393277
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs2151298896
MyVariant Identifiers: chr16:g.3777890T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3727889T>G , CM000678.2:g.3727889T>G GRCh38
NC_000016.9:g.3777890T>G , CM000678.1:g.3777890T>G GRCh37
NC_000016.8:g.3717891T>G NCBI36
NG_009873.1:g.157232A>C
NG_009873.2:g.157825A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.7158A>C MANE Select ENSP00000262367.5:p.Gly2386=
ENST00000262367.9:c.7158A>C ENSP00000262367.5:p.Gly2386=
ENST00000382070.7:c.7044A>C ENSP00000371502.3:p.Gly2348=
NM_001079846.1:c.7044A>C NP_001073315.1:p.Gly2348=
NM_004380.2:c.7158A>C NP_004371.2:p.Gly2386=
XM_005255124.3:c.7113A>C XP_005255181.1:p.Gly2371=
XM_005255125.3:c.6741A>C XP_005255182.1:p.Gly2247=
XM_006720848.2:c.6897A>C XP_006720911.1:p.Gly2299=
XM_011522380.1:c.7104A>C XP_011520682.1:p.Gly2368=
XM_011522381.1:c.6405A>C XP_011520683.1:p.Gly2135=
XM_005255124.4:c.7113A>C XP_005255181.1:p.Gly2371=
XM_005255125.4:c.6741A>C XP_005255182.1:p.Gly2247=
XM_006720848.3:c.6897A>C XP_006720911.1:p.Gly2299=
XM_011522381.2:c.6405A>C XP_011520683.1:p.Gly2135=
XM_017022944.1:c.7152A>C XP_016878433.1:p.Gly2384=
NM_004380.3:c.7158A>C MANE Select NP_004371.2:p.Gly2386=