Canonical Allele Identifier: CA7869422

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3731871T>C , CM000678.2:g.3731871T>C	GRCh38
NC_000016.9:g.3781872T>C , CM000678.1:g.3781872T>C	GRCh37
NC_000016.8:g.3721873T>C	NCBI36
NG_009873.1:g.153250A>G
NG_009873.2:g.153843A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4795A>G MANE Select	NP_004371.2:p.Ser1599Gly
ENST00000262367.10:c.4795A>G MANE Select	ENSP00000262367.5:p.Ser1599Gly
NM_001079846.1:c.4681A>G	NP_001073315.1:p.Ser1561Gly
NM_004380.2:c.4795A>G	NP_004371.2:p.Ser1599Gly
ENST00000262367.9:c.4795A>G	ENSP00000262367.5:p.Ser1599Gly
ENST00000382070.7:c.4681A>G	ENSP00000371502.3:p.Ser1561Gly
XM_005255124.3:c.4750A>G	XP_005255181.1:p.Ser1584Gly
XM_005255124.4:c.4750A>G	XP_005255181.1:p.Ser1584Gly
XM_005255125.3:c.4378A>G	XP_005255182.1:p.Ser1460Gly
XM_005255125.4:c.4378A>G	XP_005255182.1:p.Ser1460Gly
XM_006720848.2:c.4534A>G	XP_006720911.1:p.Ser1512Gly
XM_006720848.3:c.4534A>G	XP_006720911.1:p.Ser1512Gly
XM_011522380.1:c.4741A>G	XP_011520682.1:p.Ser1581Gly
XM_011522381.1:c.4042A>G	XP_011520683.1:p.Ser1348Gly
XM_011522381.2:c.4042A>G	XP_011520683.1:p.Ser1348Gly
XM_017022944.1:c.4789A>G	XP_016878433.1:p.Ser1597Gly