Canonical Allele Identifier: CA405432908

Gene: SYNE4

Linked Data

• MyVariant Identifiers: chr19:g.36497561C>A (hg19) ; chr19:g.36006659C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006659C>A , CM000681.2:g.36006659C>A	GRCh38
NC_000019.9:g.36497561C>A , CM000681.1:g.36497561C>A	GRCh37
NC_000019.8:g.41189401C>A	NCBI36
NG_042831.1:g.7135G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.631G>T MANE Select	ENSP00000316130.3:p.Ala211Ser
ENST00000397428.8:c.67-1222G>T
ENST00000465425.2:n.743G>T
ENST00000324444.7:c.631G>T	ENSP00000316130.3:p.Ala211Ser
ENST00000340477.9:c.292G>T	ENSP00000343152.5:p.Ala98Ser
ENST00000397428.7:c.40-1222G>T	ENSP00000380572.3:n.40-1222G>T
ENST00000465425.1:n.743G>T
ENST00000490730.1:c.631G>T	ENSP00000422716.1:p.Ala211Ser
ENST00000503121.5:c.242+1558G>T
ENST00000505054.2:n.395-1222G>T
NM_001039876.1:c.631G>T	NP_001034965.1:p.Ala211Ser
NM_001039876.2:c.631G>T	NP_001034965.1:p.Ala211Ser
NM_001297735.1:c.292G>T	NP_001284664.1:p.Ala98Ser
NM_001297735.2:c.292G>T	NP_001284664.1:p.Ala98Ser
XM_005258598.2:c.631G>T	XP_005258655.1:p.Ala211Ser
XM_005258601.2:c.618+91G>T	XP_005258658.1:n.618+91G>T
XM_005258604.3:c.631G>T	XP_005258661.1:p.Ala211Ser
NM_001039876.3:c.631G>T MANE Select	NP_001034965.1:p.Ala211Ser
NM_001297735.3:c.292G>T	NP_001284664.1:p.Ala98Ser