Canonical Allele Identifier: CA366088690

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122511G>T , CM000668.2:g.152122511G>T GRCh38
NC_000006.11:g.152443646G>T , CM000668.1:g.152443646G>T GRCh37
NC_000006.10:g.152485339G>T NCBI36
NG_012855.1:g.519889C>A
NG_008493.2:g.470821G>T
NG_012855.2:g.519889C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000354674.5:c.2853C>A (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Ser951Arg
ENST00000367255.10:c.26319C>A (SYNE1) MANE Select ENSP00000356224.5:p.Ser8773Arg
ENST00000423061.6:c.26175C>A (SYNE1) ENSP00000396024.1:p.Ser8725Arg
ENST00000672154.1:c.1662C>A (SYNE1)
ENST00000672169.1:c.2037C>A (SYNE1)
ENST00000673173.1:c.1904C>A (SYNE1)
ENST00000673451.1:c.2169C>A (SYNE1) ENSP00000500189.1:n.2169C>A
ENST00000341594.9:c.25104C>A (SYNE1) ENSP00000341887.6:p.Ser8368Arg
ENST00000347037.9:n.3067C>A (SYNE1)
ENST00000354674.4:c.2853C>A (SYNE1) ENSP00000346701.4:p.Ser951Arg
ENST00000367251.7:c.5095C>A (SYNE1) ENSP00000356220.3:n.5095C>A
ENST00000367255.9:c.26319C>A (SYNE1) ENSP00000356224.5:p.Ser8773Arg
ENST00000367256.9:n.10011C>A (SYNE1)
ENST00000367257.8:c.4198C>A (SYNE1) ENSP00000356226.4:n.4198C>A
ENST00000409694.6:n.9903C>A (SYNE1)
ENST00000423061.5:c.26175C>A (SYNE1) ENSP00000396024.1:p.Ser8725Arg
ENST00000427531.6:c.851-2755G>T (ESR1) ENSP00000394721.2:n.851-2755G>T
ENST00000460912.6:n.2933C>A (SYNE1)
ENST00000478916.5:n.6956C>A (SYNE1)
ENST00000539504.5:c.2784C>A (SYNE1) ENSP00000441052.1:p.Ser928Arg
NM_033071.3:c.26175C>A (SYNE1) NP_149062.1:p.Ser8725Arg
NM_182961.3:c.26319C>A (SYNE1) NP_892006.3:p.Ser8773Arg
XM_006715407.1:c.26466C>A (SYNE1) XP_006715470.1:p.Ser8822Arg
XM_006715408.1:c.26454C>A (SYNE1) XP_006715471.1:p.Ser8818Arg
XM_006715409.1:c.26445C>A (SYNE1) XP_006715472.1:p.Ser8815Arg
XM_006715410.1:c.26424C>A (SYNE1) XP_006715473.1:p.Ser8808Arg
XM_006715411.1:c.26415C>A (SYNE1) XP_006715474.1:p.Ser8805Arg
XM_006715412.1:c.26409C>A (SYNE1) XP_006715475.1:p.Ser8803Arg
XM_006715413.1:c.26397C>A (SYNE1) XP_006715476.1:p.Ser8799Arg
XM_006715414.1:c.26394C>A (SYNE1) XP_006715477.1:p.Ser8798Arg
XM_006715415.1:c.26355C>A (SYNE1) XP_006715478.1:p.Ser8785Arg
XM_006715416.1:c.26340C>A (SYNE1) XP_006715479.1:p.Ser8780Arg
XM_006715417.1:c.26325C>A (SYNE1) XP_006715480.1:p.Ser8775Arg
XM_006715420.1:c.26313C>A (SYNE1) XP_006715483.1:p.Ser8771Arg
XM_006715421.1:c.26310C>A (SYNE1) XP_006715484.1:p.Ser8770Arg
XM_006715422.1:c.26307C>A (SYNE1) XP_006715485.1:p.Ser8769Arg
XM_006715423.1:c.*130C>A (SYNE1) XP_006715486.1:n.*130C>A
XM_006715424.1:c.*130C>A (SYNE1) XP_006715487.1:n.*130C>A
XM_006715425.1:c.*130C>A (SYNE1) XP_006715488.1:n.*130C>A
XM_011535641.1:c.26463C>A (SYNE1) XP_011533943.1:p.Ser8821Arg
XM_011535642.1:c.26451C>A (SYNE1) XP_011533944.1:p.Ser8817Arg
XM_011535643.1:c.26301C>A (SYNE1) XP_011533945.1:p.Ser8767Arg
XM_011535644.1:c.24741C>A (SYNE1) XP_011533946.1:p.Ser8247Arg
XM_011535645.1:c.24234C>A (SYNE1) XP_011533947.1:p.Ser8078Arg
XM_011535647.1:c.19701C>A (SYNE1) XP_011533949.1:p.Ser6567Arg
NM_001328100.1:c.851-2755G>T (ESR1) NP_001315029.1:n.851-2755G>T
NM_001347701.1:c.*130C>A (SYNE1) NP_001334630.1:n.*130C>A
NM_001347702.1:c.2853C>A (SYNE1) NP_001334631.1:p.Ser951Arg
XM_006715408.2:c.26454C>A (SYNE1) XP_006715471.1:p.Ser8818Arg
XM_006715410.2:c.26424C>A (SYNE1) XP_006715473.1:p.Ser8808Arg
XM_006715412.2:c.26409C>A (SYNE1) XP_006715475.1:p.Ser8803Arg
XM_006715413.2:c.26397C>A (SYNE1) XP_006715476.1:p.Ser8799Arg
XM_006715415.2:c.26355C>A (SYNE1) XP_006715478.1:p.Ser8785Arg
XM_006715416.2:c.26340C>A (SYNE1) XP_006715479.1:p.Ser8780Arg
XM_006715417.2:c.26325C>A (SYNE1) XP_006715480.1:p.Ser8775Arg
XM_006715420.2:c.26313C>A (SYNE1) XP_006715483.1:p.Ser8771Arg
XM_006715421.2:c.26310C>A (SYNE1) XP_006715484.1:p.Ser8770Arg
XM_006715423.2:c.*130C>A (SYNE1) XP_006715486.1:n.*130C>A
XM_006715424.2:c.*130C>A (SYNE1) XP_006715487.1:n.*130C>A
XM_006715425.2:c.*130C>A (SYNE1) XP_006715488.1:n.*130C>A
XM_011535641.2:c.26463C>A (SYNE1) XP_011533943.1:p.Ser8821Arg
XM_011535642.2:c.26451C>A (SYNE1) XP_011533944.1:p.Ser8817Arg
XM_011535645.2:c.24234C>A (SYNE1) XP_011533947.1:p.Ser8078Arg
XM_017010608.1:c.26466C>A (SYNE1) XP_016866097.1:p.Ser8822Arg
XM_017010609.1:c.26466C>A (SYNE1) XP_016866098.1:p.Ser8822Arg
XM_017010610.1:c.26445C>A (SYNE1) XP_016866099.1:p.Ser8815Arg
XM_017010611.2:c.26439C>A (SYNE1) XP_016866100.1:p.Ser8813Arg
XM_017010612.1:c.26388C>A (SYNE1) XP_016866101.1:p.Ser8796Arg
XM_017010613.1:c.26352C>A (SYNE1) XP_016866102.1:p.Ser8784Arg
XM_017010614.1:c.26310C>A (SYNE1) XP_016866103.1:p.Ser8770Arg
XM_017010615.1:c.26199C>A (SYNE1) XP_016866104.1:p.Ser8733Arg
XM_017010616.1:c.*130C>A (SYNE1) XP_016866105.1:n.*130C>A
XM_017010617.1:c.*130C>A (SYNE1) XP_016866106.1:n.*130C>A
XM_017010618.1:c.*130C>A (SYNE1) XP_016866107.1:n.*130C>A
XM_017010619.1:c.24741C>A (SYNE1) XP_016866108.1:p.Ser8247Arg
NM_182961.4:c.26319C>A (SYNE1) MANE Select NP_892006.3:p.Ser8773Arg
NM_001328100.2:c.851-2755G>T (ESR1) NP_001315029.1:n.851-2755G>T
NM_001347701.2:c.*130C>A (SYNE1) NP_001334630.1:n.*130C>A
NM_001347702.2:c.2853C>A (SYNE1) MANE Plus Clinical NP_001334631.1:p.Ser951Arg
NM_033071.5:c.26175C>A (SYNE1) NP_149062.2:p.Ser8725Arg