Canonical Allele Identifier: CA405431428

Gene: SYNE4

Linked Data

• MyVariant Identifiers: chr19:g.36497347T>A (hg19) ; chr19:g.36006445T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006445T>A , CM000681.2:g.36006445T>A	GRCh38
NC_000019.9:g.36497347T>A , CM000681.1:g.36497347T>A	GRCh37
NC_000019.8:g.41189187T>A	NCBI36
NG_042831.1:g.7349A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.845A>T MANE Select	ENSP00000316130.3:p.Gln282Leu
ENST00000397428.8:c.67-1008A>T
ENST00000465425.2:n.957A>T
ENST00000324444.7:c.845A>T	ENSP00000316130.3:p.Gln282Leu
ENST00000340477.9:c.506A>T	ENSP00000343152.5:p.Gln169Leu
ENST00000397428.7:c.40-1008A>T	ENSP00000380572.3:n.40-1008A>T
ENST00000465425.1:n.957A>T
ENST00000490730.1:c.688+157A>T	ENSP00000422716.1:n.688+157A>T
ENST00000503121.5:c.242+1772A>T
ENST00000505054.2:n.395-1008A>T
NM_001039876.1:c.845A>T	NP_001034965.1:p.Gln282Leu
NM_001039876.2:c.845A>T	NP_001034965.1:p.Gln282Leu
NM_001297735.1:c.506A>T	NP_001284664.1:p.Gln169Leu
NM_001297735.2:c.506A>T	NP_001284664.1:p.Gln169Leu
XM_005258598.2:c.688+157A>T	XP_005258655.1:n.688+157A>T
XM_005258601.2:c.618+305A>T	XP_005258658.1:n.618+305A>T
XM_005258604.3:c.688+157A>T	XP_005258661.1:n.688+157A>T
NM_001039876.3:c.845A>T MANE Select	NP_001034965.1:p.Gln282Leu
NM_001297735.3:c.506A>T	NP_001284664.1:p.Gln169Leu