Canonical Allele Identifier: CA394558748

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3731373C>T , CM000678.2:g.3731373C>T	GRCh38
NC_000016.9:g.3781374C>T , CM000678.1:g.3781374C>T	GRCh37
NC_000016.8:g.3721375C>T	NCBI36
NG_009873.1:g.153748G>A
NG_009873.2:g.154341G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4991G>A MANE Select	NP_004371.2:p.Arg1664His
ENST00000262367.10:c.4991G>A MANE Select	ENSP00000262367.5:p.Arg1664His
NM_001079846.1:c.4877G>A	NP_001073315.1:p.Arg1626His
NM_004380.2:c.4991G>A	NP_004371.2:p.Arg1664His
ENST00000262367.9:c.4991G>A	ENSP00000262367.5:p.Arg1664His
ENST00000382070.7:c.4877G>A	ENSP00000371502.3:p.Arg1626His
XM_005255124.3:c.4946G>A	XP_005255181.1:p.Arg1649His
XM_005255124.4:c.4946G>A	XP_005255181.1:p.Arg1649His
XM_005255125.3:c.4574G>A	XP_005255182.1:p.Arg1525His
XM_005255125.4:c.4574G>A	XP_005255182.1:p.Arg1525His
XM_006720848.2:c.4730G>A	XP_006720911.1:p.Arg1577His
XM_006720848.3:c.4730G>A	XP_006720911.1:p.Arg1577His
XM_011522380.1:c.4937G>A	XP_011520682.1:p.Arg1646His
XM_011522381.1:c.4238G>A	XP_011520683.1:p.Arg1413His
XM_011522381.2:c.4238G>A	XP_011520683.1:p.Arg1413His
XM_017022944.1:c.4985G>A	XP_016878433.1:p.Arg1662His