Canonical Allele Identifier: CA394555930

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729448G>A , CM000678.2:g.3729448G>A	GRCh38
NC_000016.9:g.3779449G>A , CM000678.1:g.3779449G>A	GRCh37
NC_000016.8:g.3719450G>A	NCBI36
NG_009873.1:g.155673C>T
NG_009873.2:g.156266C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.5599C>T MANE Select	NP_004371.2:p.Arg1867Trp
ENST00000262367.10:c.5599C>T MANE Select	ENSP00000262367.5:p.Arg1867Trp
NM_001079846.1:c.5485C>T	NP_001073315.1:p.Arg1829Trp
NM_004380.2:c.5599C>T	NP_004371.2:p.Arg1867Trp
ENST00000262367.9:c.5599C>T	ENSP00000262367.5:p.Arg1867Trp
ENST00000382070.7:c.5485C>T	ENSP00000371502.3:p.Arg1829Trp
XM_005255124.3:c.5554C>T	XP_005255181.1:p.Arg1852Trp
XM_005255124.4:c.5554C>T	XP_005255181.1:p.Arg1852Trp
XM_005255125.3:c.5182C>T	XP_005255182.1:p.Arg1728Trp
XM_005255125.4:c.5182C>T	XP_005255182.1:p.Arg1728Trp
XM_006720848.2:c.5338C>T	XP_006720911.1:p.Arg1780Trp
XM_006720848.3:c.5338C>T	XP_006720911.1:p.Arg1780Trp
XM_011522380.1:c.5545C>T	XP_011520682.1:p.Arg1849Trp
XM_011522381.1:c.4846C>T	XP_011520683.1:p.Arg1616Trp
XM_011522381.2:c.4846C>T	XP_011520683.1:p.Arg1616Trp
XM_017022944.1:c.5593C>T	XP_016878433.1:p.Arg1865Trp