Canonical Allele Identifier: CA9393870
Gene: SYNE4 HGNC NCBI

Linked Data

dbSNP Id: rs746374169

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.36006605G>T , CM000681.2:g.36006605G>T GRCh38
NC_000019.9:g.36497507G>T , CM000681.1:g.36497507G>T GRCh37
NC_000019.8:g.41189347G>T NCBI36
NG_042831.1:g.7189C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000324444.9:c.685C>A MANE Select ENSP00000316130.3:p.Pro229Thr
ENST00000397428.8:c.67-1168C>A
ENST00000465425.2:n.797C>A
ENST00000324444.7:c.685C>A ENSP00000316130.3:p.Pro229Thr
ENST00000340477.9:c.346C>A ENSP00000343152.5:p.Pro116Thr
ENST00000397428.7:c.40-1168C>A ENSP00000380572.3:n.40-1168C>A
ENST00000465425.1:n.797C>A
ENST00000490730.1:c.685C>A ENSP00000422716.1:p.Pro229Thr
ENST00000503121.5:c.242+1612C>A
ENST00000505054.2:n.395-1168C>A
NM_001039876.1:c.685C>A NP_001034965.1:p.Pro229Thr
NM_001039876.2:c.685C>A NP_001034965.1:p.Pro229Thr
NM_001297735.1:c.346C>A NP_001284664.1:p.Pro116Thr
NM_001297735.2:c.346C>A NP_001284664.1:p.Pro116Thr
XM_005258598.2:c.685C>A XP_005258655.1:p.Pro229Thr
XM_005258601.2:c.618+145C>A XP_005258658.1:n.618+145C>A
XM_005258604.3:c.685C>A XP_005258661.1:p.Pro229Thr
NM_001039876.3:c.685C>A MANE Select NP_001034965.1:p.Pro229Thr
NM_001297735.3:c.346C>A NP_001284664.1:p.Pro116Thr