Canonical Allele Identifier: CA394558496

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3731314A>T , CM000678.2:g.3731314A>T	GRCh38
NC_000016.9:g.3781315A>T , CM000678.1:g.3781315A>T	GRCh37
NC_000016.8:g.3721316A>T	NCBI36
NG_009873.1:g.153807T>A
NG_009873.2:g.154400T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.5050T>A MANE Select	NP_004371.2:p.Ser1684Thr
ENST00000262367.10:c.5050T>A MANE Select	ENSP00000262367.5:p.Ser1684Thr
NM_001079846.1:c.4936T>A	NP_001073315.1:p.Ser1646Thr
NM_004380.2:c.5050T>A	NP_004371.2:p.Ser1684Thr
ENST00000262367.9:c.5050T>A	ENSP00000262367.5:p.Ser1684Thr
ENST00000382070.7:c.4936T>A	ENSP00000371502.3:p.Ser1646Thr
XM_005255124.3:c.5005T>A	XP_005255181.1:p.Ser1669Thr
XM_005255124.4:c.5005T>A	XP_005255181.1:p.Ser1669Thr
XM_005255125.3:c.4633T>A	XP_005255182.1:p.Ser1545Thr
XM_005255125.4:c.4633T>A	XP_005255182.1:p.Ser1545Thr
XM_006720848.2:c.4789T>A	XP_006720911.1:p.Ser1597Thr
XM_006720848.3:c.4789T>A	XP_006720911.1:p.Ser1597Thr
XM_011522380.1:c.4996T>A	XP_011520682.1:p.Ser1666Thr
XM_011522381.1:c.4297T>A	XP_011520683.1:p.Ser1433Thr
XM_011522381.2:c.4297T>A	XP_011520683.1:p.Ser1433Thr
XM_017022944.1:c.5044T>A	XP_016878433.1:p.Ser1682Thr