Canonical Allele Identifier: CA366141424
Community Standard Title: NM_182961.4(SYNE1):c.1171A>T (p.Arg391Ter)
Gene: SYNE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152484849T>A , CM000668.2:g.152484849T>A GRCh38
NC_000006.11:g.152805984T>A , CM000668.1:g.152805984T>A GRCh37
NC_000006.10:g.152847677T>A NCBI36
NG_012855.1:g.157551A>T
NG_012855.2:g.157551A>T

Transcript Alleles

HGVS Amino-acid Change
NM_182961.4:c.1171A>T MANE Select NP_892006.3:p.Arg391Ter
ENST00000367255.10:c.1171A>T MANE Select ENSP00000356224.5:p.Arg391Ter
NM_033071.3:c.1192A>T NP_149062.1:p.Arg398Ter
NM_033071.5:c.1192A>T NP_149062.2:p.Arg398Ter
NM_182961.3:c.1171A>T NP_892006.3:p.Arg391Ter
ENST00000341594.9:c.1120A>T ENSP00000341887.6:p.Arg374Ter
ENST00000367248.7:c.1141A>T ENSP00000356217.3:p.Arg381Ter
ENST00000367253.8:c.1171A>T ENSP00000356222.4:p.Arg391Ter
ENST00000367255.9:c.1171A>T ENSP00000356224.5:p.Arg391Ter
ENST00000413186.6:c.1171A>T ENSP00000414510.2:p.Arg391Ter
ENST00000423061.5:c.1192A>T ENSP00000396024.1:p.Arg398Ter
ENST00000423061.6:c.1192A>T ENSP00000396024.1:p.Arg398Ter
ENST00000461872.6:n.1389A>T
ENST00000466159.6:c.1171A>T ENSP00000446021.1:p.Arg391Ter
ENST00000535896.7:c.1165A>T ENSP00000500235.1:p.Arg389Ter
ENST00000537750.5:c.1120A>T ENSP00000441264.1:p.Arg374Ter
ENST00000610489.1:c.1141A>T ENSP00000481873.1:p.Arg381Ter
ENST00000610489.2:c.1192A>T ENSP00000481873.2:p.Arg398Ter
ENST00000672122.1:c.1114A>T ENSP00000500559.1:p.Arg372Ter
ENST00000673163.1:c.*1141A>T ENSP00000499934.1:n.*1141A>T
ENST00000673281.1:c.1165A>T ENSP00000500893.1:p.Arg389Ter
XM_006715407.1:c.1192A>T XP_006715470.1:p.Arg398Ter
XM_006715408.1:c.1192A>T XP_006715471.1:p.Arg398Ter
XM_006715408.2:c.1192A>T XP_006715471.1:p.Arg398Ter
XM_006715409.1:c.1171A>T XP_006715472.1:p.Arg391Ter
XM_006715410.1:c.1192A>T XP_006715473.1:p.Arg398Ter
XM_006715410.2:c.1192A>T XP_006715473.1:p.Arg398Ter
XM_006715411.1:c.1141A>T XP_006715474.1:p.Arg381Ter
XM_006715412.1:c.1192A>T XP_006715475.1:p.Arg398Ter
XM_006715412.2:c.1192A>T XP_006715475.1:p.Arg398Ter
XM_006715413.1:c.1192A>T XP_006715476.1:p.Arg398Ter
XM_006715413.2:c.1192A>T XP_006715476.1:p.Arg398Ter
XM_006715414.1:c.1120A>T XP_006715477.1:p.Arg374Ter
XM_006715415.1:c.1192A>T XP_006715478.1:p.Arg398Ter
XM_006715415.2:c.1192A>T XP_006715478.1:p.Arg398Ter
XM_006715416.1:c.1192A>T XP_006715479.1:p.Arg398Ter
XM_006715416.2:c.1192A>T XP_006715479.1:p.Arg398Ter
XM_006715417.1:c.1192A>T XP_006715480.1:p.Arg398Ter
XM_006715417.2:c.1192A>T XP_006715480.1:p.Arg398Ter
XM_006715420.1:c.1192A>T XP_006715483.1:p.Arg398Ter
XM_006715420.2:c.1192A>T XP_006715483.1:p.Arg398Ter
XM_006715421.1:c.1192A>T XP_006715484.1:p.Arg398Ter
XM_006715421.2:c.1192A>T XP_006715484.1:p.Arg398Ter
XM_006715422.1:c.1192A>T XP_006715485.1:p.Arg398Ter
XM_006715423.1:c.1192A>T XP_006715486.1:p.Arg398Ter
XM_006715423.2:c.1192A>T XP_006715486.1:p.Arg398Ter
XM_006715424.1:c.1192A>T XP_006715487.1:p.Arg398Ter
XM_006715424.2:c.1192A>T XP_006715487.1:p.Arg398Ter
XM_006715425.1:c.1192A>T XP_006715488.1:p.Arg398Ter
XM_006715425.2:c.1192A>T XP_006715488.1:p.Arg398Ter
XM_011535641.1:c.1192A>T XP_011533943.1:p.Arg398Ter
XM_011535641.2:c.1192A>T XP_011533943.1:p.Arg398Ter
XM_011535642.1:c.1192A>T XP_011533944.1:p.Arg398Ter
XM_011535642.2:c.1192A>T XP_011533944.1:p.Arg398Ter
XM_011535643.1:c.1192A>T XP_011533945.1:p.Arg398Ter
XM_011535646.1:c.1192A>T XP_011533948.1:p.Arg398Ter
XM_017010608.1:c.1192A>T XP_016866097.1:p.Arg398Ter
XM_017010609.1:c.1192A>T XP_016866098.1:p.Arg398Ter
XM_017010610.1:c.1171A>T XP_016866099.1:p.Arg391Ter
XM_017010611.2:c.1165A>T XP_016866100.1:p.Arg389Ter
XM_017010612.1:c.1114A>T XP_016866101.1:p.Arg372Ter
XM_017010613.1:c.1192A>T XP_016866102.1:p.Arg398Ter
XM_017010614.1:c.1192A>T XP_016866103.1:p.Arg398Ter
XM_017010615.1:c.1192A>T XP_016866104.1:p.Arg398Ter
XM_017010616.1:c.1192A>T XP_016866105.1:p.Arg398Ter
XM_017010617.1:c.1192A>T XP_016866106.1:p.Arg398Ter
XM_017010618.1:c.1192A>T XP_016866107.1:p.Arg398Ter
XR_001743287.1:n.1675A>T