Canonical Allele Identifier: CA394559126

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3731470A>C , CM000678.2:g.3731470A>C	GRCh38
NC_000016.9:g.3781471A>C , CM000678.1:g.3781471A>C	GRCh37
NC_000016.8:g.3721472A>C	NCBI36
NG_009873.1:g.153651T>G
NG_009873.2:g.154244T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4894T>G MANE Select	NP_004371.2:p.Phe1632Val
ENST00000262367.10:c.4894T>G MANE Select	ENSP00000262367.5:p.Phe1632Val
NM_001079846.1:c.4780T>G	NP_001073315.1:p.Phe1594Val
NM_004380.2:c.4894T>G	NP_004371.2:p.Phe1632Val
ENST00000262367.9:c.4894T>G	ENSP00000262367.5:p.Phe1632Val
ENST00000382070.7:c.4780T>G	ENSP00000371502.3:p.Phe1594Val
XM_005255124.3:c.4849T>G	XP_005255181.1:p.Phe1617Val
XM_005255124.4:c.4849T>G	XP_005255181.1:p.Phe1617Val
XM_005255125.3:c.4477T>G	XP_005255182.1:p.Phe1493Val
XM_005255125.4:c.4477T>G	XP_005255182.1:p.Phe1493Val
XM_006720848.2:c.4633T>G	XP_006720911.1:p.Phe1545Val
XM_006720848.3:c.4633T>G	XP_006720911.1:p.Phe1545Val
XM_011522380.1:c.4840T>G	XP_011520682.1:p.Phe1614Val
XM_011522381.1:c.4141T>G	XP_011520683.1:p.Phe1381Val
XM_011522381.2:c.4141T>G	XP_011520683.1:p.Phe1381Val
XM_017022944.1:c.4888T>G	XP_016878433.1:p.Phe1630Val