Canonical Allele Identifier: CA394563635

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736717C>T , CM000678.2:g.3736717C>T	GRCh38
NC_000016.9:g.3786718C>T , CM000678.1:g.3786718C>T	GRCh37
NC_000016.8:g.3726719C>T	NCBI36
NG_009873.1:g.148404G>A
NG_009873.2:g.148997G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4493G>A MANE Select	NP_004371.2:p.Arg1498Gln
ENST00000262367.10:c.4493G>A MANE Select	ENSP00000262367.5:p.Arg1498Gln
NM_001079846.1:c.4379G>A	NP_001073315.1:p.Arg1460Gln
NM_004380.2:c.4493G>A	NP_004371.2:p.Arg1498Gln
ENST00000262367.9:c.4493G>A	ENSP00000262367.5:p.Arg1498Gln
ENST00000382070.7:c.4379G>A	ENSP00000371502.3:p.Arg1460Gln
ENST00000570939.2:c.3128G>A	ENSP00000461002.2:p.Arg1043Gln
ENST00000571763.5:n.283G>A
ENST00000574740.1:n.314G>A
ENST00000576720.1:n.3316G>A
XM_005255124.3:c.4448G>A	XP_005255181.1:p.Arg1483Gln
XM_005255124.4:c.4448G>A	XP_005255181.1:p.Arg1483Gln
XM_005255125.3:c.4076G>A	XP_005255182.1:p.Arg1359Gln
XM_005255125.4:c.4076G>A	XP_005255182.1:p.Arg1359Gln
XM_006720848.2:c.4232G>A	XP_006720911.1:p.Arg1411Gln
XM_006720848.3:c.4232G>A	XP_006720911.1:p.Arg1411Gln
XM_011522380.1:c.4439G>A	XP_011520682.1:p.Arg1480Gln
XM_011522381.1:c.3740G>A	XP_011520683.1:p.Arg1247Gln
XM_011522381.2:c.3740G>A	XP_011520683.1:p.Arg1247Gln
XM_017022944.1:c.4487G>A	XP_016878433.1:p.Arg1496Gln