Canonical Allele Identifier: CA2202930201
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3745291G= , CM000678.2:g.3745291G= GRCh38
NC_000016.9:g.3795292G= , CM000678.1:g.3795292G= GRCh37
NC_000016.8:g.3735293G= NCBI36
NG_009873.1:g.139830C=
NG_009873.2:g.140423C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.3900C= MANE Select ENSP00000262367.5:p.Ile1300=
ENST00000262367.9:c.3900C= ENSP00000262367.5:p.Ile1300=
ENST00000382070.7:c.3786C= ENSP00000371502.3:p.Ile1262=
ENST00000570939.2:c.2535C= ENSP00000461002.2:p.Ile845=
ENST00000572569.1:n.364C=
ENST00000573517.6:c.206C=
NM_001079846.1:c.3786C= NP_001073315.1:p.Ile1262=
NM_004380.2:c.3900C= NP_004371.2:p.Ile1300=
XM_005255124.3:c.3855C= XP_005255181.1:p.Ile1285=
XM_005255125.3:c.3483C= XP_005255182.1:p.Ile1161=
XM_006720848.2:c.3900C= XP_006720911.1:p.Ile1300=
XM_011522380.1:c.3846C= XP_011520682.1:p.Ile1282=
XM_011522381.1:c.3147C= XP_011520683.1:p.Ile1049=
XM_005255124.4:c.3855C= XP_005255181.1:p.Ile1285=
XM_005255125.4:c.3483C= XP_005255182.1:p.Ile1161=
XM_006720848.3:c.3900C= XP_006720911.1:p.Ile1300=
XM_011522381.2:c.3147C= XP_011520683.1:p.Ile1049=
XM_017022944.1:c.3894C= XP_016878433.1:p.Ile1298=
NM_004380.3:c.3900C= MANE Select NP_004371.2:p.Ile1300=