Canonical Allele Identifier: CA9393904

Gene: SYNE4

Linked Data

• dbSNP Id: rs562611583
• ExAC: 19:36497698 A / T
• gnomAD v2: 19-36497698-A-T
• gnomAD v3: 19-36006796-A-T
• gnomAD v4: 19-36006796-A-T
• MyVariant Identifiers: chr19:g.36497698A>T (hg19) ; chr19:g.36497698_36497700delinsTAG (hg19) ; chr19:g.36006796A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006796A>T , CM000681.2:g.36006796A>T	GRCh38
NC_000019.9:g.36497698A>T , CM000681.1:g.36497698A>T	GRCh37
NC_000019.8:g.41189538A>T	NCBI36
NG_042831.1:g.6998T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.572T>A MANE Select	ENSP00000316130.3:p.Phe191Tyr
ENST00000397428.8:c.67-1359T>A
ENST00000465425.2:n.684T>A
ENST00000324444.7:c.572T>A	ENSP00000316130.3:p.Phe191Tyr
ENST00000340477.9:c.280-125T>A	ENSP00000343152.5:n.280-125T>A
ENST00000397428.7:c.40-1359T>A	ENSP00000380572.3:n.40-1359T>A
ENST00000465425.1:n.684T>A
ENST00000490730.1:c.572T>A	ENSP00000422716.1:p.Phe191Tyr
ENST00000503121.5:c.242+1421T>A
ENST00000505054.2:n.395-1359T>A
NM_001039876.1:c.572T>A	NP_001034965.1:p.Phe191Tyr
NM_001039876.2:c.572T>A	NP_001034965.1:p.Phe191Tyr
NM_001297735.1:c.280-125T>A	NP_001284664.1:n.280-125T>A
NM_001297735.2:c.280-125T>A	NP_001284664.1:n.280-125T>A
XM_005258598.2:c.572T>A	XP_005258655.1:p.Phe191Tyr
XM_005258601.2:c.572T>A	XP_005258658.1:p.Phe191Tyr
XM_005258604.3:c.572T>A	XP_005258661.1:p.Phe191Tyr
NM_001039876.3:c.572T>A MANE Select	NP_001034965.1:p.Phe191Tyr
NM_001297735.3:c.280-125T>A	NP_001284664.1:n.280-125T>A