Canonical Allele Identifier: CA2202938954
Community Standard Title: NM_004380.3(CREBBP):c.4336C= (p.Arg1446=)
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3738617G= , CM000678.2:g.3738617G= GRCh38
NC_000016.9:g.3788618G= , CM000678.1:g.3788618G= GRCh37
NC_000016.8:g.3728619G= NCBI36
NG_009873.1:g.146504C=
NG_009873.2:g.147097C=

Transcript Alleles

HGVS Amino-acid Change
NM_004380.3:c.4336C= MANE Select NP_004371.2:p.Arg1446=
ENST00000262367.10:c.4336C= MANE Select ENSP00000262367.5:p.Arg1446=
NM_001079846.1:c.4222C= NP_001073315.1:p.Arg1408=
NM_004380.2:c.4336C= NP_004371.2:p.Arg1446=
ENST00000262367.9:c.4336C= ENSP00000262367.5:p.Arg1446=
ENST00000382070.7:c.4222C= ENSP00000371502.3:p.Arg1408=
ENST00000570939.2:c.2971C= ENSP00000461002.2:p.Arg991=
ENST00000574740.1:n.215+1782C=
ENST00000576720.1:n.3217+961C=
XM_005255124.3:c.4291C= XP_005255181.1:p.Arg1431=
XM_005255124.4:c.4291C= XP_005255181.1:p.Arg1431=
XM_005255125.3:c.3919C= XP_005255182.1:p.Arg1307=
XM_005255125.4:c.3919C= XP_005255182.1:p.Arg1307=
XM_006720848.2:c.4133+1782C= XP_006720911.1:n.4133+1782C=
XM_006720848.3:c.4133+1782C= XP_006720911.1:n.4133+1782C=
XM_011522380.1:c.4282C= XP_011520682.1:p.Arg1428=
XM_011522381.1:c.3583C= XP_011520683.1:p.Arg1195=
XM_011522381.2:c.3583C= XP_011520683.1:p.Arg1195=
XM_017022944.1:c.4330C= XP_016878433.1:p.Arg1444=