Canonical Allele Identifier: CA9393911

Gene: SYNE4

Linked Data

• dbSNP Id: rs778930927
• ExAC: 19:36497731 A / G
• gnomAD v2: 19-36497731-A-G
• gnomAD v4: 19-36006829-A-G
• MyVariant Identifiers: chr19:g.36497731A>G (hg19) ; chr19:g.36006829A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006829A>G , CM000681.2:g.36006829A>G	GRCh38
NC_000019.9:g.36497731A>G , CM000681.1:g.36497731A>G	GRCh37
NC_000019.8:g.41189571A>G	NCBI36
NG_042831.1:g.6965T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.539T>C MANE Select	ENSP00000316130.3:p.Leu180Pro
ENST00000397428.8:c.67-1392T>C
ENST00000465425.2:n.651T>C
ENST00000324444.7:c.539T>C	ENSP00000316130.3:p.Leu180Pro
ENST00000340477.9:c.280-158T>C	ENSP00000343152.5:n.280-158T>C
ENST00000397428.7:c.40-1392T>C	ENSP00000380572.3:n.40-1392T>C
ENST00000465425.1:n.651T>C
ENST00000490730.1:c.539T>C	ENSP00000422716.1:p.Leu180Pro
ENST00000503121.5:c.242+1388T>C
ENST00000505054.2:n.394+1388T>C
NM_001039876.1:c.539T>C	NP_001034965.1:p.Leu180Pro
NM_001039876.2:c.539T>C	NP_001034965.1:p.Leu180Pro
NM_001297735.1:c.280-158T>C	NP_001284664.1:n.280-158T>C
NM_001297735.2:c.280-158T>C	NP_001284664.1:n.280-158T>C
XM_005258598.2:c.539T>C	XP_005258655.1:p.Leu180Pro
XM_005258601.2:c.539T>C	XP_005258658.1:p.Leu180Pro
XM_005258604.3:c.539T>C	XP_005258661.1:p.Leu180Pro
NM_001039876.3:c.539T>C MANE Select	NP_001034965.1:p.Leu180Pro
NM_001297735.3:c.280-158T>C	NP_001284664.1:n.280-158T>C