Canonical Allele Identifier: CA2202943284
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3757918T= , CM000678.2:g.3757918T= GRCh38
NC_000016.9:g.3807919T= , CM000678.1:g.3807919T= GRCh37
NC_000016.8:g.3747920T= NCBI36
NG_009873.1:g.127203A=
NG_009873.2:g.127796A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.3500A= MANE Select ENSP00000262367.5:p.Tyr1167=
ENST00000262367.9:c.3500A= ENSP00000262367.5:p.Tyr1167=
ENST00000382070.7:c.3386A= ENSP00000371502.3:p.Tyr1129=
ENST00000570939.2:c.2105A= ENSP00000461002.2:p.Tyr702=
NM_001079846.1:c.3386A= NP_001073315.1:p.Tyr1129=
NM_004380.2:c.3500A= NP_004371.2:p.Tyr1167=
XM_005255124.3:c.3455A= XP_005255181.1:p.Tyr1152=
XM_005255125.3:c.3083A= XP_005255182.1:p.Tyr1028=
XM_006720848.2:c.3500A= XP_006720911.1:p.Tyr1167=
XM_011522380.1:c.3446A= XP_011520682.1:p.Tyr1149=
XM_011522381.1:c.2747A= XP_011520683.1:p.Tyr916=
XM_011522382.1:c.3500A= XP_011520684.1:p.Tyr1167=
XM_005255124.4:c.3455A= XP_005255181.1:p.Tyr1152=
XM_005255125.4:c.3083A= XP_005255182.1:p.Tyr1028=
XM_006720848.3:c.3500A= XP_006720911.1:p.Tyr1167=
XM_011522381.2:c.2747A= XP_011520683.1:p.Tyr916=
XM_011522382.3:c.3500A= XP_011520684.1:p.Tyr1167=
XM_017022944.1:c.3494A= XP_016878433.1:p.Tyr1165=
NM_004380.3:c.3500A= MANE Select NP_004371.2:p.Tyr1167=