Canonical Allele Identifier: CA1673188767

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122461T= , CM000668.2:g.152122461T= GRCh38
NC_000006.11:g.152443596T= , CM000668.1:g.152443596T= GRCh37
NC_000006.10:g.152485289T= NCBI36
NG_012855.1:g.519939A=
NG_008493.2:g.470771T=
NG_012855.2:g.519939A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2903A= (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Tyr968=
ENST00000367255.10:c.26369A= (SYNE1) MANE Select ENSP00000356224.5:p.Tyr8790=
ENST00000423061.6:c.26225A= (SYNE1) ENSP00000396024.1:p.Tyr8742=
ENST00000672154.1:c.1712A= (SYNE1)
ENST00000672169.1:c.2087A= (SYNE1)
ENST00000673173.1:c.1954A= (SYNE1)
ENST00000673451.1:c.2219A= (SYNE1) ENSP00000500189.1:n.2219A=
ENST00000341594.9:c.25154A= (SYNE1) ENSP00000341887.6:p.Tyr8385=
ENST00000347037.9:n.3117A= (SYNE1)
ENST00000354674.4:c.2903A= (SYNE1) ENSP00000346701.4:p.Tyr968=
ENST00000367251.7:c.5145A= (SYNE1) ENSP00000356220.3:n.5145A=
ENST00000367255.9:c.26369A= (SYNE1) ENSP00000356224.5:p.Tyr8790=
ENST00000367256.9:n.10061A= (SYNE1)
ENST00000367257.8:c.4248A= (SYNE1) ENSP00000356226.4:n.4248A=
ENST00000409694.6:n.9953A= (SYNE1)
ENST00000423061.5:c.26225A= (SYNE1) ENSP00000396024.1:p.Tyr8742=
ENST00000427531.6:c.851-2805T= (ESR1) ENSP00000394721.2:n.851-2805T=
ENST00000460912.6:n.2983A= (SYNE1)
ENST00000478916.5:n.7006A= (SYNE1)
ENST00000539504.5:c.2834A= (SYNE1) ENSP00000441052.1:p.Tyr945=
NM_033071.3:c.26225A= (SYNE1) NP_149062.1:p.Tyr8742=
NM_182961.3:c.26369A= (SYNE1) NP_892006.3:p.Tyr8790=
XM_006715407.1:c.26516A= (SYNE1) XP_006715470.1:p.Tyr8839=
XM_006715408.1:c.26504A= (SYNE1) XP_006715471.1:p.Tyr8835=
XM_006715409.1:c.26495A= (SYNE1) XP_006715472.1:p.Tyr8832=
XM_006715410.1:c.26474A= (SYNE1) XP_006715473.1:p.Tyr8825=
XM_006715411.1:c.26465A= (SYNE1) XP_006715474.1:p.Tyr8822=
XM_006715412.1:c.26459A= (SYNE1) XP_006715475.1:p.Tyr8820=
XM_006715413.1:c.26447A= (SYNE1) XP_006715476.1:p.Tyr8816=
XM_006715414.1:c.26444A= (SYNE1) XP_006715477.1:p.Tyr8815=
XM_006715415.1:c.26405A= (SYNE1) XP_006715478.1:p.Tyr8802=
XM_006715416.1:c.26390A= (SYNE1) XP_006715479.1:p.Tyr8797=
XM_006715417.1:c.26375A= (SYNE1) XP_006715480.1:p.Tyr8792=
XM_006715420.1:c.26363A= (SYNE1) XP_006715483.1:p.Tyr8788=
XM_006715421.1:c.26360A= (SYNE1) XP_006715484.1:p.Tyr8787=
XM_006715422.1:c.26357A= (SYNE1) XP_006715485.1:p.Tyr8786=
XM_006715423.1:c.*180A= (SYNE1) XP_006715486.1:n.*180A=
XM_006715424.1:c.*180A= (SYNE1) XP_006715487.1:n.*180A=
XM_006715425.1:c.*180A= (SYNE1) XP_006715488.1:n.*180A=
XM_011535641.1:c.26513A= (SYNE1) XP_011533943.1:p.Tyr8838=
XM_011535642.1:c.26501A= (SYNE1) XP_011533944.1:p.Tyr8834=
XM_011535643.1:c.26351A= (SYNE1) XP_011533945.1:p.Tyr8784=
XM_011535644.1:c.24791A= (SYNE1) XP_011533946.1:p.Tyr8264=
XM_011535645.1:c.24284A= (SYNE1) XP_011533947.1:p.Tyr8095=
XM_011535647.1:c.19751A= (SYNE1) XP_011533949.1:p.Tyr6584=
NM_001328100.1:c.851-2805T= (ESR1) NP_001315029.1:n.851-2805T=
NM_001347701.1:c.*180A= (SYNE1) NP_001334630.1:n.*180A=
NM_001347702.1:c.2903A= (SYNE1) NP_001334631.1:p.Tyr968=
XM_006715408.2:c.26504A= (SYNE1) XP_006715471.1:p.Tyr8835=
XM_006715410.2:c.26474A= (SYNE1) XP_006715473.1:p.Tyr8825=
XM_006715412.2:c.26459A= (SYNE1) XP_006715475.1:p.Tyr8820=
XM_006715413.2:c.26447A= (SYNE1) XP_006715476.1:p.Tyr8816=
XM_006715415.2:c.26405A= (SYNE1) XP_006715478.1:p.Tyr8802=
XM_006715416.2:c.26390A= (SYNE1) XP_006715479.1:p.Tyr8797=
XM_006715417.2:c.26375A= (SYNE1) XP_006715480.1:p.Tyr8792=
XM_006715420.2:c.26363A= (SYNE1) XP_006715483.1:p.Tyr8788=
XM_006715421.2:c.26360A= (SYNE1) XP_006715484.1:p.Tyr8787=
XM_006715423.2:c.*180A= (SYNE1) XP_006715486.1:n.*180A=
XM_006715424.2:c.*180A= (SYNE1) XP_006715487.1:n.*180A=
XM_006715425.2:c.*180A= (SYNE1) XP_006715488.1:n.*180A=
XM_011535641.2:c.26513A= (SYNE1) XP_011533943.1:p.Tyr8838=
XM_011535642.2:c.26501A= (SYNE1) XP_011533944.1:p.Tyr8834=
XM_011535645.2:c.24284A= (SYNE1) XP_011533947.1:p.Tyr8095=
XM_017010608.1:c.26516A= (SYNE1) XP_016866097.1:p.Tyr8839=
XM_017010609.1:c.26516A= (SYNE1) XP_016866098.1:p.Tyr8839=
XM_017010610.1:c.26495A= (SYNE1) XP_016866099.1:p.Tyr8832=
XM_017010611.2:c.26489A= (SYNE1) XP_016866100.1:p.Tyr8830=
XM_017010612.1:c.26438A= (SYNE1) XP_016866101.1:p.Tyr8813=
XM_017010613.1:c.26402A= (SYNE1) XP_016866102.1:p.Tyr8801=
XM_017010614.1:c.26360A= (SYNE1) XP_016866103.1:p.Tyr8787=
XM_017010615.1:c.26249A= (SYNE1) XP_016866104.1:p.Tyr8750=
XM_017010616.1:c.*180A= (SYNE1) XP_016866105.1:n.*180A=
XM_017010617.1:c.*180A= (SYNE1) XP_016866106.1:n.*180A=
XM_017010618.1:c.*180A= (SYNE1) XP_016866107.1:n.*180A=
XM_017010619.1:c.24791A= (SYNE1) XP_016866108.1:p.Tyr8264=
NM_182961.4:c.26369A= (SYNE1) MANE Select NP_892006.3:p.Tyr8790=
NM_001328100.2:c.851-2805T= (ESR1) NP_001315029.1:n.851-2805T=
NM_001347701.2:c.*180A= (SYNE1) NP_001334630.1:n.*180A=
NM_001347702.2:c.2903A= (SYNE1) MANE Plus Clinical NP_001334631.1:p.Tyr968=
NM_033071.5:c.26225A= (SYNE1) NP_149062.2:p.Tyr8742=