Canonical Allele Identifier: CA394565439

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740511G>A , CM000678.2:g.3740511G>A	GRCh38
NC_000016.9:g.3790512G>A , CM000678.1:g.3790512G>A	GRCh37
NC_000016.8:g.3730513G>A	NCBI36
NG_009873.1:g.144610C>T
NG_009873.2:g.145203C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4021C>T MANE Select	NP_004371.2:p.Arg1341Ter
ENST00000262367.10:c.4021C>T MANE Select	ENSP00000262367.5:p.Arg1341Ter
NM_001079846.1:c.3907C>T	NP_001073315.1:p.Arg1303Ter
NM_004380.2:c.4021C>T	NP_004371.2:p.Arg1341Ter
ENST00000262367.9:c.4021C>T	ENSP00000262367.5:p.Arg1341Ter
ENST00000382070.7:c.3907C>T	ENSP00000371502.3:p.Arg1303Ter
ENST00000570939.2:c.2656C>T	ENSP00000461002.2:p.Arg886Ter
ENST00000572569.1:n.485C>T
ENST00000573517.6:c.327C>T
ENST00000574740.1:n.103C>T
ENST00000576720.1:n.2958C>T
XM_005255124.3:c.3976C>T	XP_005255181.1:p.Arg1326Ter
XM_005255124.4:c.3976C>T	XP_005255181.1:p.Arg1326Ter
XM_005255125.3:c.3604C>T	XP_005255182.1:p.Arg1202Ter
XM_005255125.4:c.3604C>T	XP_005255182.1:p.Arg1202Ter
XM_006720848.2:c.4021C>T	XP_006720911.1:p.Arg1341Ter
XM_006720848.3:c.4021C>T	XP_006720911.1:p.Arg1341Ter
XM_011522380.1:c.3967C>T	XP_011520682.1:p.Arg1323Ter
XM_011522381.1:c.3268C>T	XP_011520683.1:p.Arg1090Ter
XM_011522381.2:c.3268C>T	XP_011520683.1:p.Arg1090Ter
XM_017022944.1:c.4015C>T	XP_016878433.1:p.Arg1339Ter