Canonical Allele Identifier: CA394550480
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs746116315

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3727922G>C , CM000678.2:g.3727922G>C GRCh38
NC_000016.9:g.3777923G>C , CM000678.1:g.3777923G>C GRCh37
NC_000016.8:g.3717924G>C NCBI36
NG_009873.1:g.157199C>G
NG_009873.2:g.157792C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.7125C>G MANE Select ENSP00000262367.5:p.His2375Gln
ENST00000262367.9:c.7125C>G ENSP00000262367.5:p.His2375Gln
ENST00000382070.7:c.7011C>G ENSP00000371502.3:p.His2337Gln
NM_001079846.1:c.7011C>G NP_001073315.1:p.His2337Gln
NM_004380.2:c.7125C>G NP_004371.2:p.His2375Gln
XM_005255124.3:c.7080C>G XP_005255181.1:p.His2360Gln
XM_005255125.3:c.6708C>G XP_005255182.1:p.His2236Gln
XM_006720848.2:c.6864C>G XP_006720911.1:p.His2288Gln
XM_011522380.1:c.7071C>G XP_011520682.1:p.His2357Gln
XM_011522381.1:c.6372C>G XP_011520683.1:p.His2124Gln
XM_005255124.4:c.7080C>G XP_005255181.1:p.His2360Gln
XM_005255125.4:c.6708C>G XP_005255182.1:p.His2236Gln
XM_006720848.3:c.6864C>G XP_006720911.1:p.His2288Gln
XM_011522381.2:c.6372C>G XP_011520683.1:p.His2124Gln
XM_017022944.1:c.7119C>G XP_016878433.1:p.His2373Gln
NM_004380.3:c.7125C>G MANE Select NP_004371.2:p.His2375Gln