Canonical Allele Identifier: CA394550119
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs2151297951

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3727748G>C , CM000678.2:g.3727748G>C GRCh38
NC_000016.9:g.3777749G>C , CM000678.1:g.3777749G>C GRCh37
NC_000016.8:g.3717750G>C NCBI36
NG_009873.1:g.157373C>G
NG_009873.2:g.157966C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.7299C>G MANE Select ENSP00000262367.5:p.Asp2433Glu
ENST00000262367.9:c.7299C>G ENSP00000262367.5:p.Asp2433Glu
ENST00000382070.7:c.7185C>G ENSP00000371502.3:p.Asp2395Glu
NM_001079846.1:c.7185C>G NP_001073315.1:p.Asp2395Glu
NM_004380.2:c.7299C>G NP_004371.2:p.Asp2433Glu
XM_005255124.3:c.7254C>G XP_005255181.1:p.Asp2418Glu
XM_005255125.3:c.6882C>G XP_005255182.1:p.Asp2294Glu
XM_006720848.2:c.7038C>G XP_006720911.1:p.Asp2346Glu
XM_011522380.1:c.7245C>G XP_011520682.1:p.Asp2415Glu
XM_011522381.1:c.6546C>G XP_011520683.1:p.Asp2182Glu
XM_005255124.4:c.7254C>G XP_005255181.1:p.Asp2418Glu
XM_005255125.4:c.6882C>G XP_005255182.1:p.Asp2294Glu
XM_006720848.3:c.7038C>G XP_006720911.1:p.Asp2346Glu
XM_011522381.2:c.6546C>G XP_011520683.1:p.Asp2182Glu
XM_017022944.1:c.7293C>G XP_016878433.1:p.Asp2431Glu
NM_004380.3:c.7299C>G MANE Select NP_004371.2:p.Asp2433Glu