Canonical Allele Identifier: CA405432481

Gene: SYNE4

Linked Data

• gnomAD v4: 19-36006563-T-G
• MyVariant Identifiers: chr19:g.36497465T>G (hg19) ; chr19:g.36006563T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006563T>G , CM000681.2:g.36006563T>G	GRCh38
NC_000019.9:g.36497465T>G , CM000681.1:g.36497465T>G	GRCh37
NC_000019.8:g.41189305T>G	NCBI36
NG_042831.1:g.7231A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.727A>C MANE Select	ENSP00000316130.3:p.Thr243Pro
ENST00000397428.8:c.67-1126A>C
ENST00000465425.2:n.839A>C
ENST00000324444.7:c.727A>C	ENSP00000316130.3:p.Thr243Pro
ENST00000340477.9:c.388A>C	ENSP00000343152.5:p.Thr130Pro
ENST00000397428.7:c.40-1126A>C	ENSP00000380572.3:n.40-1126A>C
ENST00000465425.1:n.839A>C
ENST00000490730.1:c.688+39A>C	ENSP00000422716.1:n.688+39A>C
ENST00000503121.5:c.242+1654A>C
ENST00000505054.2:n.395-1126A>C
NM_001039876.1:c.727A>C	NP_001034965.1:p.Thr243Pro
NM_001039876.2:c.727A>C	NP_001034965.1:p.Thr243Pro
NM_001297735.1:c.388A>C	NP_001284664.1:p.Thr130Pro
NM_001297735.2:c.388A>C	NP_001284664.1:p.Thr130Pro
XM_005258598.2:c.688+39A>C	XP_005258655.1:n.688+39A>C
XM_005258601.2:c.618+187A>C	XP_005258658.1:n.618+187A>C
XM_005258604.3:c.688+39A>C	XP_005258661.1:n.688+39A>C
NM_001039876.3:c.727A>C MANE Select	NP_001034965.1:p.Thr243Pro
NM_001297735.3:c.388A>C	NP_001284664.1:p.Thr130Pro