Canonical Allele Identifier: CA2333926048

Gene: SYNE4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006791G= , CM000681.2:g.36006791G=	GRCh38
NC_000019.9:g.36497693G= , CM000681.1:g.36497693G=	GRCh37
NC_000019.8:g.41189533G=	NCBI36
NG_042831.1:g.7003C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.577C= MANE Select	ENSP00000316130.3:p.Arg193=
ENST00000397428.8:c.67-1354C=
ENST00000465425.2:n.689C=
ENST00000324444.7:c.577C=	ENSP00000316130.3:p.Arg193=
ENST00000340477.9:c.280-120C=	ENSP00000343152.5:n.280-120C=
ENST00000397428.7:c.40-1354C=	ENSP00000380572.3:n.40-1354C=
ENST00000465425.1:n.689C=
ENST00000490730.1:c.577C=	ENSP00000422716.1:p.Arg193=
ENST00000503121.5:c.242+1426C=
ENST00000505054.2:n.395-1354C=
NM_001039876.1:c.577C=	NP_001034965.1:p.Arg193=
NM_001039876.2:c.577C=	NP_001034965.1:p.Arg193=
NM_001297735.1:c.280-120C=	NP_001284664.1:n.280-120C=
NM_001297735.2:c.280-120C=	NP_001284664.1:n.280-120C=
XM_005258598.2:c.577C=	XP_005258655.1:p.Arg193=
XM_005258601.2:c.577C=	XP_005258658.1:p.Arg193=
XM_005258604.3:c.577C=	XP_005258661.1:p.Arg193=
NM_001039876.3:c.577C= MANE Select	NP_001034965.1:p.Arg193=
NM_001297735.3:c.280-120C=	NP_001284664.1:n.280-120C=