Canonical Allele Identifier: CA2333926045

Gene: SYNE4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006787A= , CM000681.2:g.36006787A=	GRCh38
NC_000019.9:g.36497689A= , CM000681.1:g.36497689A=	GRCh37
NC_000019.8:g.41189529A=	NCBI36
NG_042831.1:g.7007T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.581T= MANE Select	ENSP00000316130.3:p.Leu194=
ENST00000397428.8:c.67-1350T=
ENST00000465425.2:n.693T=
ENST00000324444.7:c.581T=	ENSP00000316130.3:p.Leu194=
ENST00000340477.9:c.280-116T=	ENSP00000343152.5:n.280-116T=
ENST00000397428.7:c.40-1350T=	ENSP00000380572.3:n.40-1350T=
ENST00000465425.1:n.693T=
ENST00000490730.1:c.581T=	ENSP00000422716.1:p.Leu194=
ENST00000503121.5:c.242+1430T=
ENST00000505054.2:n.395-1350T=
NM_001039876.1:c.581T=	NP_001034965.1:p.Leu194=
NM_001039876.2:c.581T=	NP_001034965.1:p.Leu194=
NM_001297735.1:c.280-116T=	NP_001284664.1:n.280-116T=
NM_001297735.2:c.280-116T=	NP_001284664.1:n.280-116T=
XM_005258598.2:c.581T=	XP_005258655.1:p.Leu194=
XM_005258601.2:c.581T=	XP_005258658.1:p.Leu194=
XM_005258604.3:c.581T=	XP_005258661.1:p.Leu194=
NM_001039876.3:c.581T= MANE Select	NP_001034965.1:p.Leu194=
NM_001297735.3:c.280-116T=	NP_001284664.1:n.280-116T=