Canonical Allele Identifier: CA493276447
Gene: CREBBP HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.3900331T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3850330T>C , CM000678.2:g.3850330T>C GRCh38
NC_000016.9:g.3900331T>C , CM000678.1:g.3900331T>C GRCh37
NC_000016.8:g.3840332T>C NCBI36
NG_009873.1:g.34791A>G
NG_009873.2:g.35384A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.765A>G MANE Select ENSP00000262367.5:p.Gly255=
ENST00000262367.9:c.765A>G ENSP00000262367.5:p.Gly255=
ENST00000382070.7:c.765A>G ENSP00000371502.3:p.Gly255=
NM_001079846.1:c.765A>G NP_001073315.1:p.Gly255=
NM_004380.2:c.765A>G NP_004371.2:p.Gly255=
XM_005255124.3:c.765A>G XP_005255181.1:p.Gly255=
XM_005255125.3:c.765A>G XP_005255182.1:p.Gly255=
XM_006720848.2:c.765A>G XP_006720911.1:p.Gly255=
XM_011522380.1:c.711A>G XP_011520682.1:p.Gly237=
XM_011522382.1:c.765A>G XP_011520684.1:p.Gly255=
XM_005255124.4:c.765A>G XP_005255181.1:p.Gly255=
XM_005255125.4:c.765A>G XP_005255182.1:p.Gly255=
XM_006720848.3:c.765A>G XP_006720911.1:p.Gly255=
XM_011522382.3:c.765A>G XP_011520684.1:p.Gly255=
XM_017022944.1:c.765A>G XP_016878433.1:p.Gly255=
NM_004380.3:c.765A>G MANE Select NP_004371.2:p.Gly255=