Canonical Allele Identifier: CA405431813

Gene: SYNE4

Linked Data

• gnomAD v4: 19-36006487-G-A
• MyVariant Identifiers: chr19:g.36497389G>A (hg19) ; chr19:g.36006487G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006487G>A , CM000681.2:g.36006487G>A	GRCh38
NC_000019.9:g.36497389G>A , CM000681.1:g.36497389G>A	GRCh37
NC_000019.8:g.41189229G>A	NCBI36
NG_042831.1:g.7307C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.803C>T MANE Select	ENSP00000316130.3:p.Thr268Ile
ENST00000397428.8:c.67-1050C>T
ENST00000465425.2:n.915C>T
ENST00000324444.7:c.803C>T	ENSP00000316130.3:p.Thr268Ile
ENST00000340477.9:c.464C>T	ENSP00000343152.5:p.Thr155Ile
ENST00000397428.7:c.40-1050C>T	ENSP00000380572.3:n.40-1050C>T
ENST00000465425.1:n.915C>T
ENST00000490730.1:c.688+115C>T	ENSP00000422716.1:n.688+115C>T
ENST00000503121.5:c.242+1730C>T
ENST00000505054.2:n.395-1050C>T
NM_001039876.1:c.803C>T	NP_001034965.1:p.Thr268Ile
NM_001039876.2:c.803C>T	NP_001034965.1:p.Thr268Ile
NM_001297735.1:c.464C>T	NP_001284664.1:p.Thr155Ile
NM_001297735.2:c.464C>T	NP_001284664.1:p.Thr155Ile
XM_005258598.2:c.688+115C>T	XP_005258655.1:n.688+115C>T
XM_005258601.2:c.618+263C>T	XP_005258658.1:n.618+263C>T
XM_005258604.3:c.688+115C>T	XP_005258661.1:n.688+115C>T
NM_001039876.3:c.803C>T MANE Select	NP_001034965.1:p.Thr268Ile
NM_001297735.3:c.464C>T	NP_001284664.1:p.Thr155Ile