Canonical Allele Identifier: CA366089258

Linked Data

dbSNP Id: rs2051688672

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122666C>T , CM000668.2:g.152122666C>T GRCh38
NC_000006.11:g.152443801C>T , CM000668.1:g.152443801C>T GRCh37
NC_000006.10:g.152485494C>T NCBI36
NG_012855.1:g.519734G>A
NG_008493.2:g.470976C>T
NG_012855.2:g.519734G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2698G>A (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Gly900Ser
ENST00000367255.10:c.26164G>A (SYNE1) MANE Select ENSP00000356224.5:p.Gly8722Ser
ENST00000423061.6:c.26020G>A (SYNE1) ENSP00000396024.1:p.Gly8674Ser
ENST00000672154.1:c.1507G>A (SYNE1)
ENST00000672169.1:c.1882G>A (SYNE1)
ENST00000673173.1:c.1749G>A (SYNE1)
ENST00000673451.1:c.2014G>A (SYNE1) ENSP00000500189.1:n.2014G>A
ENST00000341594.9:c.24949G>A (SYNE1) ENSP00000341887.6:p.Gly8317Ser
ENST00000347037.9:n.2912G>A (SYNE1)
ENST00000354674.4:c.2698G>A (SYNE1) ENSP00000346701.4:p.Gly900Ser
ENST00000367251.7:c.4940G>A (SYNE1) ENSP00000356220.3:p.Arg1647Lys
ENST00000367255.9:c.26164G>A (SYNE1) ENSP00000356224.5:p.Gly8722Ser
ENST00000367256.9:n.9856G>A (SYNE1)
ENST00000367257.8:c.4043G>A (SYNE1) ENSP00000356226.4:p.Arg1348Lys
ENST00000409694.6:n.9748G>A (SYNE1)
ENST00000423061.5:c.26020G>A (SYNE1) ENSP00000396024.1:p.Gly8674Ser
ENST00000427531.6:c.851-2600C>T (ESR1) ENSP00000394721.2:n.851-2600C>T
ENST00000460912.6:n.2778G>A (SYNE1)
ENST00000478916.5:n.6801G>A (SYNE1)
ENST00000536990.5:n.2942G>A (SYNE1)
ENST00000539504.5:c.2629G>A (SYNE1) ENSP00000441052.1:p.Gly877Ser
NM_033071.3:c.26020G>A (SYNE1) NP_149062.1:p.Gly8674Ser
NM_182961.3:c.26164G>A (SYNE1) NP_892006.3:p.Gly8722Ser
XM_006715407.1:c.26311G>A (SYNE1) XP_006715470.1:p.Gly8771Ser
XM_006715408.1:c.26299G>A (SYNE1) XP_006715471.1:p.Gly8767Ser
XM_006715409.1:c.26290G>A (SYNE1) XP_006715472.1:p.Gly8764Ser
XM_006715410.1:c.26269G>A (SYNE1) XP_006715473.1:p.Gly8757Ser
XM_006715411.1:c.26260G>A (SYNE1) XP_006715474.1:p.Gly8754Ser
XM_006715412.1:c.26254G>A (SYNE1) XP_006715475.1:p.Gly8752Ser
XM_006715413.1:c.26242G>A (SYNE1) XP_006715476.1:p.Gly8748Ser
XM_006715414.1:c.26239G>A (SYNE1) XP_006715477.1:p.Gly8747Ser
XM_006715415.1:c.26200G>A (SYNE1) XP_006715478.1:p.Gly8734Ser
XM_006715416.1:c.26185G>A (SYNE1) XP_006715479.1:p.Gly8729Ser
XM_006715417.1:c.26170G>A (SYNE1) XP_006715480.1:p.Gly8724Ser
XM_006715420.1:c.26158G>A (SYNE1) XP_006715483.1:p.Gly8720Ser
XM_006715421.1:c.26155G>A (SYNE1) XP_006715484.1:p.Gly8719Ser
XM_006715422.1:c.26152G>A (SYNE1) XP_006715485.1:p.Gly8718Ser
XM_006715423.1:c.26252G>A (SYNE1) XP_006715486.1:p.Arg8751Lys
XM_006715424.1:c.26210G>A (SYNE1) XP_006715487.1:p.Arg8737Lys
XM_006715425.1:c.26141G>A (SYNE1) XP_006715488.1:p.Arg8714Lys
XM_011535641.1:c.26308G>A (SYNE1) XP_011533943.1:p.Gly8770Ser
XM_011535642.1:c.26296G>A (SYNE1) XP_011533944.1:p.Gly8766Ser
XM_011535643.1:c.26146G>A (SYNE1) XP_011533945.1:p.Gly8716Ser
XM_011535644.1:c.24586G>A (SYNE1) XP_011533946.1:p.Gly8196Ser
XM_011535645.1:c.24079G>A (SYNE1) XP_011533947.1:p.Gly8027Ser
XM_011535647.1:c.19546G>A (SYNE1) XP_011533949.1:p.Gly6516Ser
NM_001328100.1:c.851-2600C>T (ESR1) NP_001315029.1:n.851-2600C>T
NM_001347701.1:c.2711G>A (SYNE1) NP_001334630.1:p.Arg904Lys
NM_001347702.1:c.2698G>A (SYNE1) NP_001334631.1:p.Gly900Ser
XM_006715408.2:c.26299G>A (SYNE1) XP_006715471.1:p.Gly8767Ser
XM_006715410.2:c.26269G>A (SYNE1) XP_006715473.1:p.Gly8757Ser
XM_006715412.2:c.26254G>A (SYNE1) XP_006715475.1:p.Gly8752Ser
XM_006715413.2:c.26242G>A (SYNE1) XP_006715476.1:p.Gly8748Ser
XM_006715415.2:c.26200G>A (SYNE1) XP_006715478.1:p.Gly8734Ser
XM_006715416.2:c.26185G>A (SYNE1) XP_006715479.1:p.Gly8729Ser
XM_006715417.2:c.26170G>A (SYNE1) XP_006715480.1:p.Gly8724Ser
XM_006715420.2:c.26158G>A (SYNE1) XP_006715483.1:p.Gly8720Ser
XM_006715421.2:c.26155G>A (SYNE1) XP_006715484.1:p.Gly8719Ser
XM_006715423.2:c.26252G>A (SYNE1) XP_006715486.1:p.Arg8751Lys
XM_006715424.2:c.26210G>A (SYNE1) XP_006715487.1:p.Arg8737Lys
XM_006715425.2:c.26141G>A (SYNE1) XP_006715488.1:p.Arg8714Lys
XM_011535641.2:c.26308G>A (SYNE1) XP_011533943.1:p.Gly8770Ser
XM_011535642.2:c.26296G>A (SYNE1) XP_011533944.1:p.Gly8766Ser
XM_011535645.2:c.24079G>A (SYNE1) XP_011533947.1:p.Gly8027Ser
XM_017010608.1:c.26311G>A (SYNE1) XP_016866097.1:p.Gly8771Ser
XM_017010609.1:c.26311G>A (SYNE1) XP_016866098.1:p.Gly8771Ser
XM_017010610.1:c.26290G>A (SYNE1) XP_016866099.1:p.Gly8764Ser
XM_017010611.2:c.26284G>A (SYNE1) XP_016866100.1:p.Gly8762Ser
XM_017010612.1:c.26233G>A (SYNE1) XP_016866101.1:p.Gly8745Ser
XM_017010613.1:c.26197G>A (SYNE1) XP_016866102.1:p.Gly8733Ser
XM_017010614.1:c.26155G>A (SYNE1) XP_016866103.1:p.Gly8719Ser
XM_017010615.1:c.26044G>A (SYNE1) XP_016866104.1:p.Gly8682Ser
XM_017010616.1:c.26183G>A (SYNE1) XP_016866105.1:p.Arg8728Lys
XM_017010617.1:c.26138G>A (SYNE1) XP_016866106.1:p.Arg8713Lys
XM_017010618.1:c.26126G>A (SYNE1) XP_016866107.1:p.Arg8709Lys
XM_017010619.1:c.24586G>A (SYNE1) XP_016866108.1:p.Gly8196Ser
NM_182961.4:c.26164G>A (SYNE1) MANE Select NP_892006.3:p.Gly8722Ser
NM_001328100.2:c.851-2600C>T (ESR1) NP_001315029.1:n.851-2600C>T
NM_001347701.2:c.2711G>A (SYNE1) NP_001334630.1:p.Arg904Lys
NM_001347702.2:c.2698G>A (SYNE1) MANE Plus Clinical NP_001334631.1:p.Gly900Ser
NM_033071.5:c.26020G>A (SYNE1) NP_149062.2:p.Gly8674Ser