Canonical Allele Identifier: CA394558212

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3731245A>T , CM000678.2:g.3731245A>T	GRCh38
NC_000016.9:g.3781246A>T , CM000678.1:g.3781246A>T	GRCh37
NC_000016.8:g.3721247A>T	NCBI36
NG_009873.1:g.153876T>A
NG_009873.2:g.154469T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.5119T>A MANE Select	NP_004371.2:p.Cys1707Ser
ENST00000262367.10:c.5119T>A MANE Select	ENSP00000262367.5:p.Cys1707Ser
NM_001079846.1:c.5005T>A	NP_001073315.1:p.Cys1669Ser
NM_004380.2:c.5119T>A	NP_004371.2:p.Cys1707Ser
ENST00000262367.9:c.5119T>A	ENSP00000262367.5:p.Cys1707Ser
ENST00000382070.7:c.5005T>A	ENSP00000371502.3:p.Cys1669Ser
ENST00000637492.1:c.6T>A
XM_005255124.3:c.5074T>A	XP_005255181.1:p.Cys1692Ser
XM_005255124.4:c.5074T>A	XP_005255181.1:p.Cys1692Ser
XM_005255125.3:c.4702T>A	XP_005255182.1:p.Cys1568Ser
XM_005255125.4:c.4702T>A	XP_005255182.1:p.Cys1568Ser
XM_006720848.2:c.4858T>A	XP_006720911.1:p.Cys1620Ser
XM_006720848.3:c.4858T>A	XP_006720911.1:p.Cys1620Ser
XM_011522380.1:c.5065T>A	XP_011520682.1:p.Cys1689Ser
XM_011522381.1:c.4366T>A	XP_011520683.1:p.Cys1456Ser
XM_011522381.2:c.4366T>A	XP_011520683.1:p.Cys1456Ser
XM_017022944.1:c.5113T>A	XP_016878433.1:p.Cys1705Ser