Canonical Allele Identifier: CA405432808

Gene: SYNE4

Linked Data

• ClinVar Variation Id: 2445877
• ClinVar RCV Id: RCV003155796
• MyVariant Identifiers: chr19:g.36497539A>T (hg19) ; chr19:g.36006637A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006637A>T , CM000681.2:g.36006637A>T	GRCh38
NC_000019.9:g.36497539A>T , CM000681.1:g.36497539A>T	GRCh37
NC_000019.8:g.41189379A>T	NCBI36
NG_042831.1:g.7157T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.653T>A MANE Select	ENSP00000316130.3:p.Leu218Ter
ENST00000397428.8:c.67-1200T>A
ENST00000465425.2:n.765T>A
ENST00000324444.7:c.653T>A	ENSP00000316130.3:p.Leu218Ter
ENST00000340477.9:c.314T>A	ENSP00000343152.5:p.Leu105Ter
ENST00000397428.7:c.40-1200T>A	ENSP00000380572.3:n.40-1200T>A
ENST00000465425.1:n.765T>A
ENST00000490730.1:c.653T>A	ENSP00000422716.1:p.Leu218Ter
ENST00000503121.5:c.242+1580T>A
ENST00000505054.2:n.395-1200T>A
NM_001039876.1:c.653T>A	NP_001034965.1:p.Leu218Ter
NM_001039876.2:c.653T>A	NP_001034965.1:p.Leu218Ter
NM_001297735.1:c.314T>A	NP_001284664.1:p.Leu105Ter
NM_001297735.2:c.314T>A	NP_001284664.1:p.Leu105Ter
XM_005258598.2:c.653T>A	XP_005258655.1:p.Leu218Ter
XM_005258601.2:c.618+113T>A	XP_005258658.1:n.618+113T>A
XM_005258604.3:c.653T>A	XP_005258661.1:p.Leu218Ter
NM_001039876.3:c.653T>A MANE Select	NP_001034965.1:p.Leu218Ter
NM_001297735.3:c.314T>A	NP_001284664.1:p.Leu105Ter