Canonical Allele Identifier: CA493393905
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs2051841339
MyVariant Identifiers: chr16:g.3779201G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729200G>C , CM000678.2:g.3729200G>C GRCh38
NC_000016.9:g.3779201G>C , CM000678.1:g.3779201G>C GRCh37
NC_000016.8:g.3719202G>C NCBI36
NG_009873.1:g.155921C>G
NG_009873.2:g.156514C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5847C>G MANE Select ENSP00000262367.5:p.Ala1949=
ENST00000262367.9:c.5847C>G ENSP00000262367.5:p.Ala1949=
ENST00000382070.7:c.5733C>G ENSP00000371502.3:p.Ala1911=
NM_001079846.1:c.5733C>G NP_001073315.1:p.Ala1911=
NM_004380.2:c.5847C>G NP_004371.2:p.Ala1949=
XM_005255124.3:c.5802C>G XP_005255181.1:p.Ala1934=
XM_005255125.3:c.5430C>G XP_005255182.1:p.Ala1810=
XM_006720848.2:c.5586C>G XP_006720911.1:p.Ala1862=
XM_011522380.1:c.5793C>G XP_011520682.1:p.Ala1931=
XM_011522381.1:c.5094C>G XP_011520683.1:p.Ala1698=
XM_005255124.4:c.5802C>G XP_005255181.1:p.Ala1934=
XM_005255125.4:c.5430C>G XP_005255182.1:p.Ala1810=
XM_006720848.3:c.5586C>G XP_006720911.1:p.Ala1862=
XM_011522381.2:c.5094C>G XP_011520683.1:p.Ala1698=
XM_017022944.1:c.5841C>G XP_016878433.1:p.Ala1947=
NM_004380.3:c.5847C>G MANE Select NP_004371.2:p.Ala1949=