Canonical Allele Identifier: CA394558036

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3731206A>G , CM000678.2:g.3731206A>G	GRCh38
NC_000016.9:g.3781207A>G , CM000678.1:g.3781207A>G	GRCh37
NC_000016.8:g.3721208A>G	NCBI36
NG_009873.1:g.153915T>C
NG_009873.2:g.154508T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.5158T>C MANE Select	NP_004371.2:p.Cys1720Arg
ENST00000262367.10:c.5158T>C MANE Select	ENSP00000262367.5:p.Cys1720Arg
NM_001079846.1:c.5044T>C	NP_001073315.1:p.Cys1682Arg
NM_004380.2:c.5158T>C	NP_004371.2:p.Cys1720Arg
ENST00000262367.9:c.5158T>C	ENSP00000262367.5:p.Cys1720Arg
ENST00000382070.7:c.5044T>C	ENSP00000371502.3:p.Cys1682Arg
ENST00000637492.1:c.45T>C
XM_005255124.3:c.5113T>C	XP_005255181.1:p.Cys1705Arg
XM_005255124.4:c.5113T>C	XP_005255181.1:p.Cys1705Arg
XM_005255125.3:c.4741T>C	XP_005255182.1:p.Cys1581Arg
XM_005255125.4:c.4741T>C	XP_005255182.1:p.Cys1581Arg
XM_006720848.2:c.4897T>C	XP_006720911.1:p.Cys1633Arg
XM_006720848.3:c.4897T>C	XP_006720911.1:p.Cys1633Arg
XM_011522380.1:c.5104T>C	XP_011520682.1:p.Cys1702Arg
XM_011522381.1:c.4405T>C	XP_011520683.1:p.Cys1469Arg
XM_011522381.2:c.4405T>C	XP_011520683.1:p.Cys1469Arg
XM_017022944.1:c.5152T>C	XP_016878433.1:p.Cys1718Arg