Canonical Allele Identifier: CA276972205
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs988000147
gnomAD v3: 16-3729495-C-T
gnomAD v4: 16-3729495-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729495C>T , CM000678.2:g.3729495C>T GRCh38
NC_000016.9:g.3779496C>T , CM000678.1:g.3779496C>T GRCh37
NC_000016.8:g.3719497C>T NCBI36
NG_009873.1:g.155626G>A
NG_009873.2:g.156219G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5552G>A MANE Select ENSP00000262367.5:p.Arg1851His
ENST00000262367.9:c.5552G>A ENSP00000262367.5:p.Arg1851His
ENST00000382070.7:c.5438G>A ENSP00000371502.3:p.Arg1813His
NM_001079846.1:c.5438G>A NP_001073315.1:p.Arg1813His
NM_004380.2:c.5552G>A NP_004371.2:p.Arg1851His
XM_005255124.3:c.5507G>A XP_005255181.1:p.Arg1836His
XM_005255125.3:c.5135G>A XP_005255182.1:p.Arg1712His
XM_006720848.2:c.5291G>A XP_006720911.1:p.Arg1764His
XM_011522380.1:c.5498G>A XP_011520682.1:p.Arg1833His
XM_011522381.1:c.4799G>A XP_011520683.1:p.Arg1600His
XM_005255124.4:c.5507G>A XP_005255181.1:p.Arg1836His
XM_005255125.4:c.5135G>A XP_005255182.1:p.Arg1712His
XM_006720848.3:c.5291G>A XP_006720911.1:p.Arg1764His
XM_011522381.2:c.4799G>A XP_011520683.1:p.Arg1600His
XM_017022944.1:c.5546G>A XP_016878433.1:p.Arg1849His
NM_004380.3:c.5552G>A MANE Select NP_004371.2:p.Arg1851His