Canonical Allele Identifier: CA394564635

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3738670C>G , CM000678.2:g.3738670C>G	GRCh38
NC_000016.9:g.3788671C>G , CM000678.1:g.3788671C>G	GRCh37
NC_000016.8:g.3728672C>G	NCBI36
NG_009873.1:g.146451G>C
NG_009873.2:g.147044G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4283G>C MANE Select	NP_004371.2:p.Arg1428Pro
ENST00000262367.10:c.4283G>C MANE Select	ENSP00000262367.5:p.Arg1428Pro
NM_001079846.1:c.4169G>C	NP_001073315.1:p.Arg1390Pro
NM_004380.2:c.4283G>C	NP_004371.2:p.Arg1428Pro
ENST00000262367.9:c.4283G>C	ENSP00000262367.5:p.Arg1428Pro
ENST00000382070.7:c.4169G>C	ENSP00000371502.3:p.Arg1390Pro
ENST00000570939.2:c.2918G>C	ENSP00000461002.2:p.Arg973Pro
ENST00000574740.1:n.215+1729G>C
ENST00000576720.1:n.3217+908G>C
XM_005255124.3:c.4238G>C	XP_005255181.1:p.Arg1413Pro
XM_005255124.4:c.4238G>C	XP_005255181.1:p.Arg1413Pro
XM_005255125.3:c.3866G>C	XP_005255182.1:p.Arg1289Pro
XM_005255125.4:c.3866G>C	XP_005255182.1:p.Arg1289Pro
XM_006720848.2:c.4133+1729G>C	XP_006720911.1:n.4133+1729G>C
XM_006720848.3:c.4133+1729G>C	XP_006720911.1:n.4133+1729G>C
XM_011522380.1:c.4229G>C	XP_011520682.1:p.Arg1410Pro
XM_011522381.1:c.3530G>C	XP_011520683.1:p.Arg1177Pro
XM_011522381.2:c.3530G>C	XP_011520683.1:p.Arg1177Pro
XM_017022944.1:c.4277G>C	XP_016878433.1:p.Arg1426Pro