Canonical Allele Identifier: CA16602825

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3738616C>A , CM000678.2:g.3738616C>A	GRCh38
NC_000016.9:g.3788617C>A , CM000678.1:g.3788617C>A	GRCh37
NC_000016.8:g.3728618C>A	NCBI36
NG_009873.1:g.146505G>T
NG_009873.2:g.147098G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4337G>T MANE Select	NP_004371.2:p.Arg1446Leu
ENST00000262367.10:c.4337G>T MANE Select	ENSP00000262367.5:p.Arg1446Leu
NM_001079846.1:c.4223G>T	NP_001073315.1:p.Arg1408Leu
NM_004380.2:c.4337G>T	NP_004371.2:p.Arg1446Leu
ENST00000262367.9:c.4337G>T	ENSP00000262367.5:p.Arg1446Leu
ENST00000382070.7:c.4223G>T	ENSP00000371502.3:p.Arg1408Leu
ENST00000570939.2:c.2972G>T	ENSP00000461002.2:p.Arg991Leu
ENST00000574740.1:n.215+1783G>T
ENST00000576720.1:n.3217+962G>T
XM_005255124.3:c.4292G>T	XP_005255181.1:p.Arg1431Leu
XM_005255124.4:c.4292G>T	XP_005255181.1:p.Arg1431Leu
XM_005255125.3:c.3920G>T	XP_005255182.1:p.Arg1307Leu
XM_005255125.4:c.3920G>T	XP_005255182.1:p.Arg1307Leu
XM_006720848.2:c.4133+1783G>T	XP_006720911.1:n.4133+1783G>T
XM_006720848.3:c.4133+1783G>T	XP_006720911.1:n.4133+1783G>T
XM_011522380.1:c.4283G>T	XP_011520682.1:p.Arg1428Leu
XM_011522381.1:c.3584G>T	XP_011520683.1:p.Arg1195Leu
XM_011522381.2:c.3584G>T	XP_011520683.1:p.Arg1195Leu
XM_017022944.1:c.4331G>T	XP_016878433.1:p.Arg1444Leu