Canonical Allele Identifier: CA405432828

Gene: SYNE4

Linked Data

• gnomAD v4: 19-36006641-C-A
• MyVariant Identifiers: chr19:g.36497543C>A (hg19) ; chr19:g.36006641C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006641C>A , CM000681.2:g.36006641C>A	GRCh38
NC_000019.9:g.36497543C>A , CM000681.1:g.36497543C>A	GRCh37
NC_000019.8:g.41189383C>A	NCBI36
NG_042831.1:g.7153G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.649G>T MANE Select	ENSP00000316130.3:p.Asp217Tyr
ENST00000397428.8:c.67-1204G>T
ENST00000465425.2:n.761G>T
ENST00000324444.7:c.649G>T	ENSP00000316130.3:p.Asp217Tyr
ENST00000340477.9:c.310G>T	ENSP00000343152.5:p.Asp104Tyr
ENST00000397428.7:c.40-1204G>T	ENSP00000380572.3:n.40-1204G>T
ENST00000465425.1:n.761G>T
ENST00000490730.1:c.649G>T	ENSP00000422716.1:p.Asp217Tyr
ENST00000503121.5:c.242+1576G>T
ENST00000505054.2:n.395-1204G>T
NM_001039876.1:c.649G>T	NP_001034965.1:p.Asp217Tyr
NM_001039876.2:c.649G>T	NP_001034965.1:p.Asp217Tyr
NM_001297735.1:c.310G>T	NP_001284664.1:p.Asp104Tyr
NM_001297735.2:c.310G>T	NP_001284664.1:p.Asp104Tyr
XM_005258598.2:c.649G>T	XP_005258655.1:p.Asp217Tyr
XM_005258601.2:c.618+109G>T	XP_005258658.1:n.618+109G>T
XM_005258604.3:c.649G>T	XP_005258661.1:p.Asp217Tyr
NM_001039876.3:c.649G>T MANE Select	NP_001034965.1:p.Asp217Tyr
NM_001297735.3:c.310G>T	NP_001284664.1:p.Asp104Tyr