Canonical Allele Identifier: CA2333925881

Gene: SYNE4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006467G= , CM000681.2:g.36006467G=	GRCh38
NC_000019.9:g.36497369G= , CM000681.1:g.36497369G=	GRCh37
NC_000019.8:g.41189209G=	NCBI36
NG_042831.1:g.7327C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.823C= MANE Select	ENSP00000316130.3:p.Leu275=
ENST00000397428.8:c.67-1030C=
ENST00000465425.2:n.935C=
ENST00000324444.7:c.823C=	ENSP00000316130.3:p.Leu275=
ENST00000340477.9:c.484C=	ENSP00000343152.5:p.Leu162=
ENST00000397428.7:c.40-1030C=	ENSP00000380572.3:n.40-1030C=
ENST00000465425.1:n.935C=
ENST00000490730.1:c.688+135C=	ENSP00000422716.1:n.688+135C=
ENST00000503121.5:c.242+1750C=
ENST00000505054.2:n.395-1030C=
NM_001039876.1:c.823C=	NP_001034965.1:p.Leu275=
NM_001039876.2:c.823C=	NP_001034965.1:p.Leu275=
NM_001297735.1:c.484C=	NP_001284664.1:p.Leu162=
NM_001297735.2:c.484C=	NP_001284664.1:p.Leu162=
XM_005258598.2:c.688+135C=	XP_005258655.1:n.688+135C=
XM_005258601.2:c.618+283C=	XP_005258658.1:n.618+283C=
XM_005258604.3:c.688+135C=	XP_005258661.1:n.688+135C=
NM_001039876.3:c.823C= MANE Select	NP_001034965.1:p.Leu275=
NM_001297735.3:c.484C=	NP_001284664.1:p.Leu162=