Canonical Allele Identifier: CA1673188962

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122542C= , CM000668.2:g.152122542C= GRCh38
NC_000006.11:g.152443677C= , CM000668.1:g.152443677C= GRCh37
NC_000006.10:g.152485370C= NCBI36
NG_012855.1:g.519858G=
NG_008493.2:g.470852C=
NG_012855.2:g.519858G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2822G= (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Cys941=
ENST00000367255.10:c.26288G= (SYNE1) MANE Select ENSP00000356224.5:p.Cys8763=
ENST00000423061.6:c.26144G= (SYNE1) ENSP00000396024.1:p.Cys8715=
ENST00000672154.1:c.1631G= (SYNE1)
ENST00000672169.1:c.2006G= (SYNE1)
ENST00000673173.1:c.1873G= (SYNE1)
ENST00000673451.1:c.2138G= (SYNE1) ENSP00000500189.1:n.2138G=
ENST00000341594.9:c.25073G= (SYNE1) ENSP00000341887.6:p.Cys8358=
ENST00000347037.9:n.3036G= (SYNE1)
ENST00000354674.4:c.2822G= (SYNE1) ENSP00000346701.4:p.Cys941=
ENST00000367251.7:c.5064G= (SYNE1) ENSP00000356220.3:n.5064G=
ENST00000367255.9:c.26288G= (SYNE1) ENSP00000356224.5:p.Cys8763=
ENST00000367256.9:n.9980G= (SYNE1)
ENST00000367257.8:c.4167G= (SYNE1) ENSP00000356226.4:n.4167G=
ENST00000409694.6:n.9872G= (SYNE1)
ENST00000423061.5:c.26144G= (SYNE1) ENSP00000396024.1:p.Cys8715=
ENST00000427531.6:c.851-2724C= (ESR1) ENSP00000394721.2:n.851-2724C=
ENST00000460912.6:n.2902G= (SYNE1)
ENST00000478916.5:n.6925G= (SYNE1)
ENST00000539504.5:c.2753G= (SYNE1) ENSP00000441052.1:p.Cys918=
NM_033071.3:c.26144G= (SYNE1) NP_149062.1:p.Cys8715=
NM_182961.3:c.26288G= (SYNE1) NP_892006.3:p.Cys8763=
XM_006715407.1:c.26435G= (SYNE1) XP_006715470.1:p.Cys8812=
XM_006715408.1:c.26423G= (SYNE1) XP_006715471.1:p.Cys8808=
XM_006715409.1:c.26414G= (SYNE1) XP_006715472.1:p.Cys8805=
XM_006715410.1:c.26393G= (SYNE1) XP_006715473.1:p.Cys8798=
XM_006715411.1:c.26384G= (SYNE1) XP_006715474.1:p.Cys8795=
XM_006715412.1:c.26378G= (SYNE1) XP_006715475.1:p.Cys8793=
XM_006715413.1:c.26366G= (SYNE1) XP_006715476.1:p.Cys8789=
XM_006715414.1:c.26363G= (SYNE1) XP_006715477.1:p.Cys8788=
XM_006715415.1:c.26324G= (SYNE1) XP_006715478.1:p.Cys8775=
XM_006715416.1:c.26309G= (SYNE1) XP_006715479.1:p.Cys8770=
XM_006715417.1:c.26294G= (SYNE1) XP_006715480.1:p.Cys8765=
XM_006715420.1:c.26282G= (SYNE1) XP_006715483.1:p.Cys8761=
XM_006715421.1:c.26279G= (SYNE1) XP_006715484.1:p.Cys8760=
XM_006715422.1:c.26276G= (SYNE1) XP_006715485.1:p.Cys8759=
XM_006715423.1:c.*99G= (SYNE1) XP_006715486.1:n.*99G=
XM_006715424.1:c.*99G= (SYNE1) XP_006715487.1:n.*99G=
XM_006715425.1:c.*99G= (SYNE1) XP_006715488.1:n.*99G=
XM_011535641.1:c.26432G= (SYNE1) XP_011533943.1:p.Cys8811=
XM_011535642.1:c.26420G= (SYNE1) XP_011533944.1:p.Cys8807=
XM_011535643.1:c.26270G= (SYNE1) XP_011533945.1:p.Cys8757=
XM_011535644.1:c.24710G= (SYNE1) XP_011533946.1:p.Cys8237=
XM_011535645.1:c.24203G= (SYNE1) XP_011533947.1:p.Cys8068=
XM_011535647.1:c.19670G= (SYNE1) XP_011533949.1:p.Cys6557=
NM_001328100.1:c.851-2724C= (ESR1) NP_001315029.1:n.851-2724C=
NM_001347701.1:c.*99G= (SYNE1) NP_001334630.1:n.*99G=
NM_001347702.1:c.2822G= (SYNE1) NP_001334631.1:p.Cys941=
XM_006715408.2:c.26423G= (SYNE1) XP_006715471.1:p.Cys8808=
XM_006715410.2:c.26393G= (SYNE1) XP_006715473.1:p.Cys8798=
XM_006715412.2:c.26378G= (SYNE1) XP_006715475.1:p.Cys8793=
XM_006715413.2:c.26366G= (SYNE1) XP_006715476.1:p.Cys8789=
XM_006715415.2:c.26324G= (SYNE1) XP_006715478.1:p.Cys8775=
XM_006715416.2:c.26309G= (SYNE1) XP_006715479.1:p.Cys8770=
XM_006715417.2:c.26294G= (SYNE1) XP_006715480.1:p.Cys8765=
XM_006715420.2:c.26282G= (SYNE1) XP_006715483.1:p.Cys8761=
XM_006715421.2:c.26279G= (SYNE1) XP_006715484.1:p.Cys8760=
XM_006715423.2:c.*99G= (SYNE1) XP_006715486.1:n.*99G=
XM_006715424.2:c.*99G= (SYNE1) XP_006715487.1:n.*99G=
XM_006715425.2:c.*99G= (SYNE1) XP_006715488.1:n.*99G=
XM_011535641.2:c.26432G= (SYNE1) XP_011533943.1:p.Cys8811=
XM_011535642.2:c.26420G= (SYNE1) XP_011533944.1:p.Cys8807=
XM_011535645.2:c.24203G= (SYNE1) XP_011533947.1:p.Cys8068=
XM_017010608.1:c.26435G= (SYNE1) XP_016866097.1:p.Cys8812=
XM_017010609.1:c.26435G= (SYNE1) XP_016866098.1:p.Cys8812=
XM_017010610.1:c.26414G= (SYNE1) XP_016866099.1:p.Cys8805=
XM_017010611.2:c.26408G= (SYNE1) XP_016866100.1:p.Cys8803=
XM_017010612.1:c.26357G= (SYNE1) XP_016866101.1:p.Cys8786=
XM_017010613.1:c.26321G= (SYNE1) XP_016866102.1:p.Cys8774=
XM_017010614.1:c.26279G= (SYNE1) XP_016866103.1:p.Cys8760=
XM_017010615.1:c.26168G= (SYNE1) XP_016866104.1:p.Cys8723=
XM_017010616.1:c.*99G= (SYNE1) XP_016866105.1:n.*99G=
XM_017010617.1:c.*99G= (SYNE1) XP_016866106.1:n.*99G=
XM_017010618.1:c.*99G= (SYNE1) XP_016866107.1:n.*99G=
XM_017010619.1:c.24710G= (SYNE1) XP_016866108.1:p.Cys8237=
NM_182961.4:c.26288G= (SYNE1) MANE Select NP_892006.3:p.Cys8763=
NM_001328100.2:c.851-2724C= (ESR1) NP_001315029.1:n.851-2724C=
NM_001347701.2:c.*99G= (SYNE1) NP_001334630.1:n.*99G=
NM_001347702.2:c.2822G= (SYNE1) MANE Plus Clinical NP_001334631.1:p.Cys941=
NM_033071.5:c.26144G= (SYNE1) NP_149062.2:p.Cys8715=