Canonical Allele Identifier: CA405433217

Gene: SYNE4

Linked Data

• MyVariant Identifiers: chr19:g.36497701A>T (hg19) ; chr19:g.36006799A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006799A>T , CM000681.2:g.36006799A>T	GRCh38
NC_000019.9:g.36497701A>T , CM000681.1:g.36497701A>T	GRCh37
NC_000019.8:g.41189541A>T	NCBI36
NG_042831.1:g.6995T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.569T>A MANE Select	ENSP00000316130.3:p.Ile190Asn
ENST00000397428.8:c.67-1362T>A
ENST00000465425.2:n.681T>A
ENST00000324444.7:c.569T>A	ENSP00000316130.3:p.Ile190Asn
ENST00000340477.9:c.280-128T>A	ENSP00000343152.5:n.280-128T>A
ENST00000397428.7:c.40-1362T>A	ENSP00000380572.3:n.40-1362T>A
ENST00000465425.1:n.681T>A
ENST00000490730.1:c.569T>A	ENSP00000422716.1:p.Ile190Asn
ENST00000503121.5:c.242+1418T>A
ENST00000505054.2:n.395-1362T>A
NM_001039876.1:c.569T>A	NP_001034965.1:p.Ile190Asn
NM_001039876.2:c.569T>A	NP_001034965.1:p.Ile190Asn
NM_001297735.1:c.280-128T>A	NP_001284664.1:n.280-128T>A
NM_001297735.2:c.280-128T>A	NP_001284664.1:n.280-128T>A
XM_005258598.2:c.569T>A	XP_005258655.1:p.Ile190Asn
XM_005258601.2:c.569T>A	XP_005258658.1:p.Ile190Asn
XM_005258604.3:c.569T>A	XP_005258661.1:p.Ile190Asn
NM_001039876.3:c.569T>A MANE Select	NP_001034965.1:p.Ile190Asn
NM_001297735.3:c.280-128T>A	NP_001284664.1:n.280-128T>A