Canonical Allele Identifier: CA394568038

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3751762T>A , CM000678.2:g.3751762T>A	GRCh38
NC_000016.9:g.3801763T>A , CM000678.1:g.3801763T>A	GRCh37
NC_000016.8:g.3741764T>A	NCBI36
NG_009873.1:g.133359A>T
NG_009873.2:g.133952A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.3743A>T MANE Select	NP_004371.2:p.Asn1248Ile
ENST00000262367.10:c.3743A>T MANE Select	ENSP00000262367.5:p.Asn1248Ile
NM_001079846.1:c.3629A>T	NP_001073315.1:p.Asn1210Ile
NM_004380.2:c.3743A>T	NP_004371.2:p.Asn1248Ile
ENST00000262367.9:c.3743A>T	ENSP00000262367.5:p.Asn1248Ile
ENST00000382070.7:c.3629A>T	ENSP00000371502.3:p.Asn1210Ile
ENST00000570939.2:c.2378A>T	ENSP00000461002.2:p.Asn793Ile
ENST00000573517.6:c.49A>T
XM_005255124.3:c.3698A>T	XP_005255181.1:p.Asn1233Ile
XM_005255124.4:c.3698A>T	XP_005255181.1:p.Asn1233Ile
XM_005255125.3:c.3326A>T	XP_005255182.1:p.Asn1109Ile
XM_005255125.4:c.3326A>T	XP_005255182.1:p.Asn1109Ile
XM_006720848.2:c.3743A>T	XP_006720911.1:p.Asn1248Ile
XM_006720848.3:c.3743A>T	XP_006720911.1:p.Asn1248Ile
XM_011522380.1:c.3689A>T	XP_011520682.1:p.Asn1230Ile
XM_011522381.1:c.2990A>T	XP_011520683.1:p.Asn997Ile
XM_011522381.2:c.2990A>T	XP_011520683.1:p.Asn997Ile
XM_011522382.1:c.3743A>T	XP_011520684.1:p.Asn1248Ile
XM_011522382.3:c.3743A>T	XP_011520684.1:p.Asn1248Ile
XM_017022944.1:c.3737A>T	XP_016878433.1:p.Asn1246Ile