Canonical Allele Identifier: CA394564418

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3738613G>A , CM000678.2:g.3738613G>A	GRCh38
NC_000016.9:g.3788614G>A , CM000678.1:g.3788614G>A	GRCh37
NC_000016.8:g.3728615G>A	NCBI36
NG_009873.1:g.146508C>T
NG_009873.2:g.147101C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4340C>T MANE Select	NP_004371.2:p.Thr1447Ile
ENST00000262367.10:c.4340C>T MANE Select	ENSP00000262367.5:p.Thr1447Ile
NM_001079846.1:c.4226C>T	NP_001073315.1:p.Thr1409Ile
NM_004380.2:c.4340C>T	NP_004371.2:p.Thr1447Ile
ENST00000262367.9:c.4340C>T	ENSP00000262367.5:p.Thr1447Ile
ENST00000382070.7:c.4226C>T	ENSP00000371502.3:p.Thr1409Ile
ENST00000570939.2:c.2975C>T	ENSP00000461002.2:p.Thr992Ile
ENST00000574740.1:n.215+1786C>T
ENST00000576720.1:n.3217+965C>T
XM_005255124.3:c.4295C>T	XP_005255181.1:p.Thr1432Ile
XM_005255124.4:c.4295C>T	XP_005255181.1:p.Thr1432Ile
XM_005255125.3:c.3923C>T	XP_005255182.1:p.Thr1308Ile
XM_005255125.4:c.3923C>T	XP_005255182.1:p.Thr1308Ile
XM_006720848.2:c.4133+1786C>T	XP_006720911.1:n.4133+1786C>T
XM_006720848.3:c.4133+1786C>T	XP_006720911.1:n.4133+1786C>T
XM_011522380.1:c.4286C>T	XP_011520682.1:p.Thr1429Ile
XM_011522381.1:c.3587C>T	XP_011520683.1:p.Thr1196Ile
XM_011522381.2:c.3587C>T	XP_011520683.1:p.Thr1196Ile
XM_017022944.1:c.4334C>T	XP_016878433.1:p.Thr1445Ile