Canonical Allele Identifier: CA366088822

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2822G>C (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Cys941Ser
ENST00000367255.10:c.26288G>C (SYNE1) MANE Select ENSP00000356224.5:p.Cys8763Ser
ENST00000423061.6:c.26144G>C (SYNE1) ENSP00000396024.1:p.Cys8715Ser
ENST00000672154.1:c.1631G>C (SYNE1)
ENST00000672169.1:c.2006G>C (SYNE1)
ENST00000673173.1:c.1873G>C (SYNE1)
ENST00000673451.1:c.2138G>C (SYNE1) ENSP00000500189.1:n.2138G>C
ENST00000341594.9:c.25073G>C (SYNE1) ENSP00000341887.6:p.Cys8358Ser
ENST00000347037.9:n.3036G>C (SYNE1)
ENST00000354674.4:c.2822G>C (SYNE1) ENSP00000346701.4:p.Cys941Ser
ENST00000367251.7:c.5064G>C (SYNE1) ENSP00000356220.3:n.5064G>C
ENST00000367255.9:c.26288G>C (SYNE1) ENSP00000356224.5:p.Cys8763Ser
ENST00000367256.9:n.9980G>C (SYNE1)
ENST00000367257.8:c.4167G>C (SYNE1) ENSP00000356226.4:n.4167G>C
ENST00000409694.6:n.9872G>C (SYNE1)
ENST00000423061.5:c.26144G>C (SYNE1) ENSP00000396024.1:p.Cys8715Ser
ENST00000427531.6:c.851-2724C>G (ESR1) ENSP00000394721.2:n.851-2724C>G
ENST00000460912.6:n.2902G>C (SYNE1)
ENST00000478916.5:n.6925G>C (SYNE1)
ENST00000539504.5:c.2753G>C (SYNE1) ENSP00000441052.1:p.Cys918Ser
NM_033071.3:c.26144G>C (SYNE1) NP_149062.1:p.Cys8715Ser
NM_182961.3:c.26288G>C (SYNE1) NP_892006.3:p.Cys8763Ser
XM_006715407.1:c.26435G>C (SYNE1) XP_006715470.1:p.Cys8812Ser
XM_006715408.1:c.26423G>C (SYNE1) XP_006715471.1:p.Cys8808Ser
XM_006715409.1:c.26414G>C (SYNE1) XP_006715472.1:p.Cys8805Ser
XM_006715410.1:c.26393G>C (SYNE1) XP_006715473.1:p.Cys8798Ser
XM_006715411.1:c.26384G>C (SYNE1) XP_006715474.1:p.Cys8795Ser
XM_006715412.1:c.26378G>C (SYNE1) XP_006715475.1:p.Cys8793Ser
XM_006715413.1:c.26366G>C (SYNE1) XP_006715476.1:p.Cys8789Ser
XM_006715414.1:c.26363G>C (SYNE1) XP_006715477.1:p.Cys8788Ser
XM_006715415.1:c.26324G>C (SYNE1) XP_006715478.1:p.Cys8775Ser
XM_006715416.1:c.26309G>C (SYNE1) XP_006715479.1:p.Cys8770Ser
XM_006715417.1:c.26294G>C (SYNE1) XP_006715480.1:p.Cys8765Ser
XM_006715420.1:c.26282G>C (SYNE1) XP_006715483.1:p.Cys8761Ser
XM_006715421.1:c.26279G>C (SYNE1) XP_006715484.1:p.Cys8760Ser
XM_006715422.1:c.26276G>C (SYNE1) XP_006715485.1:p.Cys8759Ser
XM_006715423.1:c.*99G>C (SYNE1) XP_006715486.1:n.*99G>C
XM_006715424.1:c.*99G>C (SYNE1) XP_006715487.1:n.*99G>C
XM_006715425.1:c.*99G>C (SYNE1) XP_006715488.1:n.*99G>C
XM_011535641.1:c.26432G>C (SYNE1) XP_011533943.1:p.Cys8811Ser
XM_011535642.1:c.26420G>C (SYNE1) XP_011533944.1:p.Cys8807Ser
XM_011535643.1:c.26270G>C (SYNE1) XP_011533945.1:p.Cys8757Ser
XM_011535644.1:c.24710G>C (SYNE1) XP_011533946.1:p.Cys8237Ser
XM_011535645.1:c.24203G>C (SYNE1) XP_011533947.1:p.Cys8068Ser
XM_011535647.1:c.19670G>C (SYNE1) XP_011533949.1:p.Cys6557Ser
NM_001328100.1:c.851-2724C>G (ESR1) NP_001315029.1:n.851-2724C>G
NM_001347701.1:c.*99G>C (SYNE1) NP_001334630.1:n.*99G>C
NM_001347702.1:c.2822G>C (SYNE1) NP_001334631.1:p.Cys941Ser
XM_006715408.2:c.26423G>C (SYNE1) XP_006715471.1:p.Cys8808Ser
XM_006715410.2:c.26393G>C (SYNE1) XP_006715473.1:p.Cys8798Ser
XM_006715412.2:c.26378G>C (SYNE1) XP_006715475.1:p.Cys8793Ser
XM_006715413.2:c.26366G>C (SYNE1) XP_006715476.1:p.Cys8789Ser
XM_006715415.2:c.26324G>C (SYNE1) XP_006715478.1:p.Cys8775Ser
XM_006715416.2:c.26309G>C (SYNE1) XP_006715479.1:p.Cys8770Ser
XM_006715417.2:c.26294G>C (SYNE1) XP_006715480.1:p.Cys8765Ser
XM_006715420.2:c.26282G>C (SYNE1) XP_006715483.1:p.Cys8761Ser
XM_006715421.2:c.26279G>C (SYNE1) XP_006715484.1:p.Cys8760Ser
XM_006715423.2:c.*99G>C (SYNE1) XP_006715486.1:n.*99G>C
XM_006715424.2:c.*99G>C (SYNE1) XP_006715487.1:n.*99G>C
XM_006715425.2:c.*99G>C (SYNE1) XP_006715488.1:n.*99G>C
XM_011535641.2:c.26432G>C (SYNE1) XP_011533943.1:p.Cys8811Ser
XM_011535642.2:c.26420G>C (SYNE1) XP_011533944.1:p.Cys8807Ser
XM_011535645.2:c.24203G>C (SYNE1) XP_011533947.1:p.Cys8068Ser
XM_017010608.1:c.26435G>C (SYNE1) XP_016866097.1:p.Cys8812Ser
XM_017010609.1:c.26435G>C (SYNE1) XP_016866098.1:p.Cys8812Ser
XM_017010610.1:c.26414G>C (SYNE1) XP_016866099.1:p.Cys8805Ser
XM_017010611.2:c.26408G>C (SYNE1) XP_016866100.1:p.Cys8803Ser
XM_017010612.1:c.26357G>C (SYNE1) XP_016866101.1:p.Cys8786Ser
XM_017010613.1:c.26321G>C (SYNE1) XP_016866102.1:p.Cys8774Ser
XM_017010614.1:c.26279G>C (SYNE1) XP_016866103.1:p.Cys8760Ser
XM_017010615.1:c.26168G>C (SYNE1) XP_016866104.1:p.Cys8723Ser
XM_017010616.1:c.*99G>C (SYNE1) XP_016866105.1:n.*99G>C
XM_017010617.1:c.*99G>C (SYNE1) XP_016866106.1:n.*99G>C
XM_017010618.1:c.*99G>C (SYNE1) XP_016866107.1:n.*99G>C
XM_017010619.1:c.24710G>C (SYNE1) XP_016866108.1:p.Cys8237Ser
NM_182961.4:c.26288G>C (SYNE1) MANE Select NP_892006.3:p.Cys8763Ser
NM_001328100.2:c.851-2724C>G (ESR1) NP_001315029.1:n.851-2724C>G
NM_001347701.2:c.*99G>C (SYNE1) NP_001334630.1:n.*99G>C
NM_001347702.2:c.2822G>C (SYNE1) MANE Plus Clinical NP_001334631.1:p.Cys941Ser
NM_033071.5:c.26144G>C (SYNE1) NP_149062.2:p.Cys8715Ser