Canonical Allele Identifier: CA2202936586
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3736690A= , CM000678.2:g.3736690A= GRCh38
NC_000016.9:g.3786691A= , CM000678.1:g.3786691A= GRCh37
NC_000016.8:g.3726692A= NCBI36
NG_009873.1:g.148431T=
NG_009873.2:g.149024T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.4520T= MANE Select ENSP00000262367.5:p.Leu1507=
ENST00000262367.9:c.4520T= ENSP00000262367.5:p.Leu1507=
ENST00000382070.7:c.4406T= ENSP00000371502.3:p.Leu1469=
ENST00000570939.2:c.3155T= ENSP00000461002.2:p.Leu1052=
ENST00000571763.5:n.310T=
ENST00000574740.1:n.341T=
ENST00000576720.1:n.3343T=
NM_001079846.1:c.4406T= NP_001073315.1:p.Leu1469=
NM_004380.2:c.4520T= NP_004371.2:p.Leu1507=
XM_005255124.3:c.4475T= XP_005255181.1:p.Leu1492=
XM_005255125.3:c.4103T= XP_005255182.1:p.Leu1368=
XM_006720848.2:c.4259T= XP_006720911.1:p.Leu1420=
XM_011522380.1:c.4466T= XP_011520682.1:p.Leu1489=
XM_011522381.1:c.3767T= XP_011520683.1:p.Leu1256=
XM_005255124.4:c.4475T= XP_005255181.1:p.Leu1492=
XM_005255125.4:c.4103T= XP_005255182.1:p.Leu1368=
XM_006720848.3:c.4259T= XP_006720911.1:p.Leu1420=
XM_011522381.2:c.3767T= XP_011520683.1:p.Leu1256=
XM_017022944.1:c.4514T= XP_016878433.1:p.Leu1505=
NM_004380.3:c.4520T= MANE Select NP_004371.2:p.Leu1507=