Canonical Allele Identifier: CA394563830

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736750T>C , CM000678.2:g.3736750T>C	GRCh38
NC_000016.9:g.3786751T>C , CM000678.1:g.3786751T>C	GRCh37
NC_000016.8:g.3726752T>C	NCBI36
NG_009873.1:g.148371A>G
NG_009873.2:g.148964A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4460A>G MANE Select	NP_004371.2:p.His1487Arg
ENST00000262367.10:c.4460A>G MANE Select	ENSP00000262367.5:p.His1487Arg
NM_001079846.1:c.4346A>G	NP_001073315.1:p.His1449Arg
NM_004380.2:c.4460A>G	NP_004371.2:p.His1487Arg
ENST00000262367.9:c.4460A>G	ENSP00000262367.5:p.His1487Arg
ENST00000382070.7:c.4346A>G	ENSP00000371502.3:p.His1449Arg
ENST00000570939.2:c.3095A>G	ENSP00000461002.2:p.His1032Arg
ENST00000571763.5:n.250A>G
ENST00000574740.1:n.281A>G
ENST00000576720.1:n.3283A>G
XM_005255124.3:c.4415A>G	XP_005255181.1:p.His1472Arg
XM_005255124.4:c.4415A>G	XP_005255181.1:p.His1472Arg
XM_005255125.3:c.4043A>G	XP_005255182.1:p.His1348Arg
XM_005255125.4:c.4043A>G	XP_005255182.1:p.His1348Arg
XM_006720848.2:c.4199A>G	XP_006720911.1:p.His1400Arg
XM_006720848.3:c.4199A>G	XP_006720911.1:p.His1400Arg
XM_011522380.1:c.4406A>G	XP_011520682.1:p.His1469Arg
XM_011522381.1:c.3707A>G	XP_011520683.1:p.His1236Arg
XM_011522381.2:c.3707A>G	XP_011520683.1:p.His1236Arg
XM_017022944.1:c.4454A>G	XP_016878433.1:p.His1485Arg