Canonical Allele Identifier: CA394555927

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729447C>A , CM000678.2:g.3729447C>A	GRCh38
NC_000016.9:g.3779448C>A , CM000678.1:g.3779448C>A	GRCh37
NC_000016.8:g.3719449C>A	NCBI36
NG_009873.1:g.155674G>T
NG_009873.2:g.156267G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.5600G>T MANE Select	NP_004371.2:p.Arg1867Leu
ENST00000262367.10:c.5600G>T MANE Select	ENSP00000262367.5:p.Arg1867Leu
NM_001079846.1:c.5486G>T	NP_001073315.1:p.Arg1829Leu
NM_004380.2:c.5600G>T	NP_004371.2:p.Arg1867Leu
ENST00000262367.9:c.5600G>T	ENSP00000262367.5:p.Arg1867Leu
ENST00000382070.7:c.5486G>T	ENSP00000371502.3:p.Arg1829Leu
XM_005255124.3:c.5555G>T	XP_005255181.1:p.Arg1852Leu
XM_005255124.4:c.5555G>T	XP_005255181.1:p.Arg1852Leu
XM_005255125.3:c.5183G>T	XP_005255182.1:p.Arg1728Leu
XM_005255125.4:c.5183G>T	XP_005255182.1:p.Arg1728Leu
XM_006720848.2:c.5339G>T	XP_006720911.1:p.Arg1780Leu
XM_006720848.3:c.5339G>T	XP_006720911.1:p.Arg1780Leu
XM_011522380.1:c.5546G>T	XP_011520682.1:p.Arg1849Leu
XM_011522381.1:c.4847G>T	XP_011520683.1:p.Arg1616Leu
XM_011522381.2:c.4847G>T	XP_011520683.1:p.Arg1616Leu
XM_017022944.1:c.5594G>T	XP_016878433.1:p.Arg1865Leu