Canonical Allele Identifier: CA2202954852
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3793321G= , CM000678.2:g.3793321G= GRCh38
NC_000016.9:g.3843322G= , CM000678.1:g.3843322G= GRCh37
NC_000016.8:g.3783323G= NCBI36
NG_009873.1:g.91800C=
NG_009873.2:g.92393C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.1216+65C= MANE Select ENSP00000262367.5:n.1216+65C=
ENST00000262367.9:c.1216+65C= ENSP00000262367.5:n.1216+65C=
ENST00000382070.7:c.1216+65C= ENSP00000371502.3:n.1216+65C=
NM_001079846.1:c.1216+65C= NP_001073315.1:n.1216+65C=
NM_004380.2:c.1216+65C= NP_004371.2:n.1216+65C=
XM_005255124.3:c.1216+65C= XP_005255181.1:n.1216+65C=
XM_005255125.3:c.1216+65C= XP_005255182.1:n.1216+65C=
XM_006720848.2:c.1216+65C= XP_006720911.1:n.1216+65C=
XM_011522380.1:c.1162+65C= XP_011520682.1:n.1162+65C=
XM_011522381.1:c.463+65C= XP_011520683.1:n.463+65C=
XM_011522382.1:c.1216+65C= XP_011520684.1:n.1216+65C=
XM_005255124.4:c.1216+65C= XP_005255181.1:n.1216+65C=
XM_005255125.4:c.1216+65C= XP_005255182.1:n.1216+65C=
XM_006720848.3:c.1216+65C= XP_006720911.1:n.1216+65C=
XM_011522381.2:c.463+65C= XP_011520683.1:n.463+65C=
XM_011522382.3:c.1216+65C= XP_011520684.1:n.1216+65C=
XM_017022944.1:c.1216+65C= XP_016878433.1:n.1216+65C=
NM_004380.3:c.1216+65C= MANE Select NP_004371.2:n.1216+65C=