Canonical Allele Identifier: CA7869470

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736090T>C , CM000678.2:g.3736090T>C	GRCh38
NC_000016.9:g.3786091T>C , CM000678.1:g.3786091T>C	GRCh37
NC_000016.8:g.3726092T>C	NCBI36
NG_009873.1:g.149031A>G
NG_009873.2:g.149624A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4674A>G MANE Select	NP_004371.2:p.Gln1558=
ENST00000262367.10:c.4674A>G MANE Select	ENSP00000262367.5:p.Gln1558=
NM_001079846.1:c.4560A>G	NP_001073315.1:p.Gln1520=
NM_004380.2:c.4674A>G	NP_004371.2:p.Gln1558=
ENST00000262367.9:c.4674A>G	ENSP00000262367.5:p.Gln1558=
ENST00000382070.7:c.4560A>G	ENSP00000371502.3:p.Gln1520=
ENST00000570939.2:c.3309A>G	ENSP00000461002.2:p.Gln1103=
ENST00000571763.5:n.464A>G
ENST00000576720.1:n.3497A>G
XM_005255124.3:c.4629A>G	XP_005255181.1:p.Gln1543=
XM_005255124.4:c.4629A>G	XP_005255181.1:p.Gln1543=
XM_005255125.3:c.4257A>G	XP_005255182.1:p.Gln1419=
XM_005255125.4:c.4257A>G	XP_005255182.1:p.Gln1419=
XM_006720848.2:c.4413A>G	XP_006720911.1:p.Gln1471=
XM_006720848.3:c.4413A>G	XP_006720911.1:p.Gln1471=
XM_011522380.1:c.4620A>G	XP_011520682.1:p.Gln1540=
XM_011522381.1:c.3921A>G	XP_011520683.1:p.Gln1307=
XM_011522381.2:c.3921A>G	XP_011520683.1:p.Gln1307=
XM_017022944.1:c.4668A>G	XP_016878433.1:p.Gln1556=