Canonical Allele Identifier: CA1673188826

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122485C= , CM000668.2:g.152122485C= GRCh38
NC_000006.11:g.152443620C= , CM000668.1:g.152443620C= GRCh37
NC_000006.10:g.152485313C= NCBI36
NG_012855.1:g.519915G=
NG_008493.2:g.470795C=
NG_012855.2:g.519915G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2879G= (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Arg960=
ENST00000367255.10:c.26345G= (SYNE1) MANE Select ENSP00000356224.5:p.Arg8782=
ENST00000423061.6:c.26201G= (SYNE1) ENSP00000396024.1:p.Arg8734=
ENST00000672154.1:c.1688G= (SYNE1)
ENST00000672169.1:c.2063G= (SYNE1)
ENST00000673173.1:c.1930G= (SYNE1)
ENST00000673451.1:c.2195G= (SYNE1) ENSP00000500189.1:n.2195G=
ENST00000341594.9:c.25130G= (SYNE1) ENSP00000341887.6:p.Arg8377=
ENST00000347037.9:n.3093G= (SYNE1)
ENST00000354674.4:c.2879G= (SYNE1) ENSP00000346701.4:p.Arg960=
ENST00000367251.7:c.5121G= (SYNE1) ENSP00000356220.3:n.5121G=
ENST00000367255.9:c.26345G= (SYNE1) ENSP00000356224.5:p.Arg8782=
ENST00000367256.9:n.10037G= (SYNE1)
ENST00000367257.8:c.4224G= (SYNE1) ENSP00000356226.4:n.4224G=
ENST00000409694.6:n.9929G= (SYNE1)
ENST00000423061.5:c.26201G= (SYNE1) ENSP00000396024.1:p.Arg8734=
ENST00000427531.6:c.851-2781C= (ESR1) ENSP00000394721.2:n.851-2781C=
ENST00000460912.6:n.2959G= (SYNE1)
ENST00000478916.5:n.6982G= (SYNE1)
ENST00000539504.5:c.2810G= (SYNE1) ENSP00000441052.1:p.Arg937=
NM_033071.3:c.26201G= (SYNE1) NP_149062.1:p.Arg8734=
NM_182961.3:c.26345G= (SYNE1) NP_892006.3:p.Arg8782=
XM_006715407.1:c.26492G= (SYNE1) XP_006715470.1:p.Arg8831=
XM_006715408.1:c.26480G= (SYNE1) XP_006715471.1:p.Arg8827=
XM_006715409.1:c.26471G= (SYNE1) XP_006715472.1:p.Arg8824=
XM_006715410.1:c.26450G= (SYNE1) XP_006715473.1:p.Arg8817=
XM_006715411.1:c.26441G= (SYNE1) XP_006715474.1:p.Arg8814=
XM_006715412.1:c.26435G= (SYNE1) XP_006715475.1:p.Arg8812=
XM_006715413.1:c.26423G= (SYNE1) XP_006715476.1:p.Arg8808=
XM_006715414.1:c.26420G= (SYNE1) XP_006715477.1:p.Arg8807=
XM_006715415.1:c.26381G= (SYNE1) XP_006715478.1:p.Arg8794=
XM_006715416.1:c.26366G= (SYNE1) XP_006715479.1:p.Arg8789=
XM_006715417.1:c.26351G= (SYNE1) XP_006715480.1:p.Arg8784=
XM_006715420.1:c.26339G= (SYNE1) XP_006715483.1:p.Arg8780=
XM_006715421.1:c.26336G= (SYNE1) XP_006715484.1:p.Arg8779=
XM_006715422.1:c.26333G= (SYNE1) XP_006715485.1:p.Arg8778=
XM_006715423.1:c.*156G= (SYNE1) XP_006715486.1:n.*156G=
XM_006715424.1:c.*156G= (SYNE1) XP_006715487.1:n.*156G=
XM_006715425.1:c.*156G= (SYNE1) XP_006715488.1:n.*156G=
XM_011535641.1:c.26489G= (SYNE1) XP_011533943.1:p.Arg8830=
XM_011535642.1:c.26477G= (SYNE1) XP_011533944.1:p.Arg8826=
XM_011535643.1:c.26327G= (SYNE1) XP_011533945.1:p.Arg8776=
XM_011535644.1:c.24767G= (SYNE1) XP_011533946.1:p.Arg8256=
XM_011535645.1:c.24260G= (SYNE1) XP_011533947.1:p.Arg8087=
XM_011535647.1:c.19727G= (SYNE1) XP_011533949.1:p.Arg6576=
NM_001328100.1:c.851-2781C= (ESR1) NP_001315029.1:n.851-2781C=
NM_001347701.1:c.*156G= (SYNE1) NP_001334630.1:n.*156G=
NM_001347702.1:c.2879G= (SYNE1) NP_001334631.1:p.Arg960=
XM_006715408.2:c.26480G= (SYNE1) XP_006715471.1:p.Arg8827=
XM_006715410.2:c.26450G= (SYNE1) XP_006715473.1:p.Arg8817=
XM_006715412.2:c.26435G= (SYNE1) XP_006715475.1:p.Arg8812=
XM_006715413.2:c.26423G= (SYNE1) XP_006715476.1:p.Arg8808=
XM_006715415.2:c.26381G= (SYNE1) XP_006715478.1:p.Arg8794=
XM_006715416.2:c.26366G= (SYNE1) XP_006715479.1:p.Arg8789=
XM_006715417.2:c.26351G= (SYNE1) XP_006715480.1:p.Arg8784=
XM_006715420.2:c.26339G= (SYNE1) XP_006715483.1:p.Arg8780=
XM_006715421.2:c.26336G= (SYNE1) XP_006715484.1:p.Arg8779=
XM_006715423.2:c.*156G= (SYNE1) XP_006715486.1:n.*156G=
XM_006715424.2:c.*156G= (SYNE1) XP_006715487.1:n.*156G=
XM_006715425.2:c.*156G= (SYNE1) XP_006715488.1:n.*156G=
XM_011535641.2:c.26489G= (SYNE1) XP_011533943.1:p.Arg8830=
XM_011535642.2:c.26477G= (SYNE1) XP_011533944.1:p.Arg8826=
XM_011535645.2:c.24260G= (SYNE1) XP_011533947.1:p.Arg8087=
XM_017010608.1:c.26492G= (SYNE1) XP_016866097.1:p.Arg8831=
XM_017010609.1:c.26492G= (SYNE1) XP_016866098.1:p.Arg8831=
XM_017010610.1:c.26471G= (SYNE1) XP_016866099.1:p.Arg8824=
XM_017010611.2:c.26465G= (SYNE1) XP_016866100.1:p.Arg8822=
XM_017010612.1:c.26414G= (SYNE1) XP_016866101.1:p.Arg8805=
XM_017010613.1:c.26378G= (SYNE1) XP_016866102.1:p.Arg8793=
XM_017010614.1:c.26336G= (SYNE1) XP_016866103.1:p.Arg8779=
XM_017010615.1:c.26225G= (SYNE1) XP_016866104.1:p.Arg8742=
XM_017010616.1:c.*156G= (SYNE1) XP_016866105.1:n.*156G=
XM_017010617.1:c.*156G= (SYNE1) XP_016866106.1:n.*156G=
XM_017010618.1:c.*156G= (SYNE1) XP_016866107.1:n.*156G=
XM_017010619.1:c.24767G= (SYNE1) XP_016866108.1:p.Arg8256=
NM_182961.4:c.26345G= (SYNE1) MANE Select NP_892006.3:p.Arg8782=
NM_001328100.2:c.851-2781C= (ESR1) NP_001315029.1:n.851-2781C=
NM_001347701.2:c.*156G= (SYNE1) NP_001334630.1:n.*156G=
NM_001347702.2:c.2879G= (SYNE1) MANE Plus Clinical NP_001334631.1:p.Arg960=
NM_033071.5:c.26201G= (SYNE1) NP_149062.2:p.Arg8734=