Canonical Allele Identifier: CA394554253
Gene: CREBBP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728953T>C , CM000678.2:g.3728953T>C GRCh38
NC_000016.9:g.3778954T>C , CM000678.1:g.3778954T>C GRCh37
NC_000016.8:g.3718955T>C NCBI36
NG_009873.1:g.156168A>G
NG_009873.2:g.156761A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6094A>G MANE Select ENSP00000262367.5:p.Met2032Val
ENST00000262367.9:c.6094A>G ENSP00000262367.5:p.Met2032Val
ENST00000382070.7:c.5980A>G ENSP00000371502.3:p.Met1994Val
NM_001079846.1:c.5980A>G NP_001073315.1:p.Met1994Val
NM_004380.2:c.6094A>G NP_004371.2:p.Met2032Val
XM_005255124.3:c.6049A>G XP_005255181.1:p.Met2017Val
XM_005255125.3:c.5677A>G XP_005255182.1:p.Met1893Val
XM_006720848.2:c.5833A>G XP_006720911.1:p.Met1945Val
XM_011522380.1:c.6040A>G XP_011520682.1:p.Met2014Val
XM_011522381.1:c.5341A>G XP_011520683.1:p.Met1781Val
XM_005255124.4:c.6049A>G XP_005255181.1:p.Met2017Val
XM_005255125.4:c.5677A>G XP_005255182.1:p.Met1893Val
XM_006720848.3:c.5833A>G XP_006720911.1:p.Met1945Val
XM_011522381.2:c.5341A>G XP_011520683.1:p.Met1781Val
XM_017022944.1:c.6088A>G XP_016878433.1:p.Met2030Val
NM_004380.3:c.6094A>G MANE Select NP_004371.2:p.Met2032Val