Canonical Allele Identifier: CA394563933

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736768T>C , CM000678.2:g.3736768T>C	GRCh38
NC_000016.9:g.3786769T>C , CM000678.1:g.3786769T>C	GRCh37
NC_000016.8:g.3726770T>C	NCBI36
NG_009873.1:g.148353A>G
NG_009873.2:g.148946A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4442A>G MANE Select	NP_004371.2:p.Asp1481Gly
ENST00000262367.10:c.4442A>G MANE Select	ENSP00000262367.5:p.Asp1481Gly
NM_001079846.1:c.4328A>G	NP_001073315.1:p.Asp1443Gly
NM_004380.2:c.4442A>G	NP_004371.2:p.Asp1481Gly
ENST00000262367.9:c.4442A>G	ENSP00000262367.5:p.Asp1481Gly
ENST00000382070.7:c.4328A>G	ENSP00000371502.3:p.Asp1443Gly
ENST00000570939.2:c.3077A>G	ENSP00000461002.2:p.Asp1026Gly
ENST00000571763.5:n.232A>G
ENST00000574740.1:n.263A>G
ENST00000576720.1:n.3265A>G
XM_005255124.3:c.4397A>G	XP_005255181.1:p.Asp1466Gly
XM_005255124.4:c.4397A>G	XP_005255181.1:p.Asp1466Gly
XM_005255125.3:c.4025A>G	XP_005255182.1:p.Asp1342Gly
XM_005255125.4:c.4025A>G	XP_005255182.1:p.Asp1342Gly
XM_006720848.2:c.4181A>G	XP_006720911.1:p.Asp1394Gly
XM_006720848.3:c.4181A>G	XP_006720911.1:p.Asp1394Gly
XM_011522380.1:c.4388A>G	XP_011520682.1:p.Asp1463Gly
XM_011522381.1:c.3689A>G	XP_011520683.1:p.Asp1230Gly
XM_011522381.2:c.3689A>G	XP_011520683.1:p.Asp1230Gly
XM_017022944.1:c.4436A>G	XP_016878433.1:p.Asp1479Gly