Canonical Allele Identifier: CA9393876

Gene: SYNE4

Linked Data

• dbSNP Id: rs774590400
• ExAC: 19:36497531 C / T
• gnomAD v2: 19-36497531-C-T
• gnomAD v3: 19-36006629-C-T
• gnomAD v4: 19-36006629-C-T
• MyVariant Identifiers: chr19:g.36497531C>T (hg19) ; chr19:g.36006629C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006629C>T , CM000681.2:g.36006629C>T	GRCh38
NC_000019.9:g.36497531C>T , CM000681.1:g.36497531C>T	GRCh37
NC_000019.8:g.41189371C>T	NCBI36
NG_042831.1:g.7165G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.661G>A MANE Select	ENSP00000316130.3:p.Glu221Lys
ENST00000397428.8:c.67-1192G>A
ENST00000465425.2:n.773G>A
ENST00000324444.7:c.661G>A	ENSP00000316130.3:p.Glu221Lys
ENST00000340477.9:c.322G>A	ENSP00000343152.5:p.Glu108Lys
ENST00000397428.7:c.40-1192G>A	ENSP00000380572.3:n.40-1192G>A
ENST00000465425.1:n.773G>A
ENST00000490730.1:c.661G>A	ENSP00000422716.1:p.Glu221Lys
ENST00000503121.5:c.242+1588G>A
ENST00000505054.2:n.395-1192G>A
NM_001039876.1:c.661G>A	NP_001034965.1:p.Glu221Lys
NM_001039876.2:c.661G>A	NP_001034965.1:p.Glu221Lys
NM_001297735.1:c.322G>A	NP_001284664.1:p.Glu108Lys
NM_001297735.2:c.322G>A	NP_001284664.1:p.Glu108Lys
XM_005258598.2:c.661G>A	XP_005258655.1:p.Glu221Lys
XM_005258601.2:c.618+121G>A	XP_005258658.1:n.618+121G>A
XM_005258604.3:c.661G>A	XP_005258661.1:p.Glu221Lys
NM_001039876.3:c.661G>A MANE Select	NP_001034965.1:p.Glu221Lys
NM_001297735.3:c.322G>A	NP_001284664.1:p.Glu108Lys