Canonical Allele Identifier: CA394554428
Gene: CREBBP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3778059C>A , CM000678.2:g.3778059C>A GRCh38
NC_000016.9:g.3828060C>A , CM000678.1:g.3828060C>A GRCh37
NC_000016.8:g.3768061C>A NCBI36
NG_009873.1:g.107062G>T
NG_009873.2:g.107655G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.2065G>T MANE Select ENSP00000262367.5:p.Gly689Trp
ENST00000262367.9:c.2065G>T ENSP00000262367.5:p.Gly689Trp
ENST00000382070.7:c.1951G>T ENSP00000371502.3:p.Gly651Trp
ENST00000570939.2:c.670G>T ENSP00000461002.2:p.Gly224Trp
ENST00000571826.5:c.114G>T
ENST00000572134.1:c.378G>T
ENST00000634839.1:n.227G>T
NM_001079846.1:c.1951G>T NP_001073315.1:p.Gly651Trp
NM_004380.2:c.2065G>T NP_004371.2:p.Gly689Trp
XM_005255124.3:c.2065G>T XP_005255181.1:p.Gly689Trp
XM_005255125.3:c.2065G>T XP_005255182.1:p.Gly689Trp
XM_006720848.2:c.2065G>T XP_006720911.1:p.Gly689Trp
XM_011522380.1:c.2011G>T XP_011520682.1:p.Gly671Trp
XM_011522381.1:c.1312G>T XP_011520683.1:p.Gly438Trp
XM_011522382.1:c.2065G>T XP_011520684.1:p.Gly689Trp
XM_005255124.4:c.2065G>T XP_005255181.1:p.Gly689Trp
XM_005255125.4:c.2065G>T XP_005255182.1:p.Gly689Trp
XM_006720848.3:c.2065G>T XP_006720911.1:p.Gly689Trp
XM_011522381.2:c.1312G>T XP_011520683.1:p.Gly438Trp
XM_011522382.3:c.2065G>T XP_011520684.1:p.Gly689Trp
XM_017022944.1:c.2065G>T XP_016878433.1:p.Gly689Trp
NM_004380.3:c.2065G>T MANE Select NP_004371.2:p.Gly689Trp