Canonical Allele Identifier: CA405432655

Gene: SYNE4

Linked Data

• gnomAD v4: 19-36006602-C-A
• MyVariant Identifiers: chr19:g.36497504C>A (hg19) ; chr19:g.36006602C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006602C>A , CM000681.2:g.36006602C>A	GRCh38
NC_000019.9:g.36497504C>A , CM000681.1:g.36497504C>A	GRCh37
NC_000019.8:g.41189344C>A	NCBI36
NG_042831.1:g.7192G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.688G>T MANE Select	ENSP00000316130.3:p.Gly230Cys
ENST00000397428.8:c.67-1165G>T
ENST00000465425.2:n.800G>T
ENST00000324444.7:c.688G>T	ENSP00000316130.3:p.Gly230Cys
ENST00000340477.9:c.349G>T	ENSP00000343152.5:p.Gly117Cys
ENST00000397428.7:c.40-1165G>T	ENSP00000380572.3:n.40-1165G>T
ENST00000465425.1:n.800G>T
ENST00000490730.1:c.688G>T	ENSP00000422716.1:p.Gly230Ter
ENST00000503121.5:c.242+1615G>T
ENST00000505054.2:n.395-1165G>T
NM_001039876.1:c.688G>T	NP_001034965.1:p.Gly230Cys
NM_001039876.2:c.688G>T	NP_001034965.1:p.Gly230Cys
NM_001297735.1:c.349G>T	NP_001284664.1:p.Gly117Cys
NM_001297735.2:c.349G>T	NP_001284664.1:p.Gly117Cys
XM_005258598.2:c.688G>T	XP_005258655.1:p.Gly230Ter
XM_005258601.2:c.618+148G>T	XP_005258658.1:n.618+148G>T
XM_005258604.3:c.688G>T	XP_005258661.1:p.Gly230Ter
NM_001039876.3:c.688G>T MANE Select	NP_001034965.1:p.Gly230Cys
NM_001297735.3:c.349G>T	NP_001284664.1:p.Gly117Cys