Canonical Allele Identifier: CA9393846
Gene: SYNE4 HGNC NCBI

Linked Data

dbSNP Id: rs748964412

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.36006475G>A , CM000681.2:g.36006475G>A GRCh38
NC_000019.9:g.36497377G>A , CM000681.1:g.36497377G>A GRCh37
NC_000019.8:g.41189217G>A NCBI36
NG_042831.1:g.7319C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000324444.9:c.815C>T MANE Select ENSP00000316130.3:p.Pro272Leu
ENST00000397428.8:c.67-1038C>T
ENST00000465425.2:n.927C>T
ENST00000324444.7:c.815C>T ENSP00000316130.3:p.Pro272Leu
ENST00000340477.9:c.476C>T ENSP00000343152.5:p.Pro159Leu
ENST00000397428.7:c.40-1038C>T ENSP00000380572.3:n.40-1038C>T
ENST00000465425.1:n.927C>T
ENST00000490730.1:c.688+127C>T ENSP00000422716.1:n.688+127C>T
ENST00000503121.5:c.242+1742C>T
ENST00000505054.2:n.395-1038C>T
NM_001039876.1:c.815C>T NP_001034965.1:p.Pro272Leu
NM_001039876.2:c.815C>T NP_001034965.1:p.Pro272Leu
NM_001297735.1:c.476C>T NP_001284664.1:p.Pro159Leu
NM_001297735.2:c.476C>T NP_001284664.1:p.Pro159Leu
XM_005258598.2:c.688+127C>T XP_005258655.1:n.688+127C>T
XM_005258601.2:c.618+275C>T XP_005258658.1:n.618+275C>T
XM_005258604.3:c.688+127C>T XP_005258661.1:n.688+127C>T
NM_001039876.3:c.815C>T MANE Select NP_001034965.1:p.Pro272Leu
NM_001297735.3:c.476C>T NP_001284664.1:p.Pro159Leu