Canonical Allele Identifier: CA4052683
Gene: SYNE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152132172C>G , CM000668.2:g.152132172C>G GRCh38
NC_000006.11:g.152453307C>G , CM000668.1:g.152453307C>G GRCh37
NC_000006.10:g.152495000C>G NCBI36
NG_012855.1:g.510228G>C
NG_012855.2:g.510228G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2578G>C MANE Plus Clinical ENSP00000346701.4:p.Gly860Arg
ENST00000367255.10:c.26044G>C MANE Select ENSP00000356224.5:p.Gly8682Arg
ENST00000423061.6:c.25900G>C ENSP00000396024.1:p.Gly8634Arg
ENST00000672154.1:c.1446G>C
ENST00000672169.1:c.1821G>C
ENST00000673173.1:c.1688G>C
ENST00000673451.1:c.1894G>C ENSP00000500189.1:n.1894G>C
ENST00000341594.9:c.24829G>C ENSP00000341887.6:p.Gly8277Arg
ENST00000347037.9:n.2792G>C
ENST00000354674.4:c.2578G>C ENSP00000346701.4:p.Gly860Arg
ENST00000367251.7:c.4879G>C ENSP00000356220.3:p.Gly1627Arg
ENST00000367255.9:c.26044G>C ENSP00000356224.5:p.Gly8682Arg
ENST00000367256.9:n.9736G>C
ENST00000367257.8:c.3982G>C ENSP00000356226.4:p.Gly1328Arg
ENST00000409694.6:n.9628G>C
ENST00000423061.5:c.25900G>C ENSP00000396024.1:p.Gly8634Arg
ENST00000460912.6:n.2658G>C
ENST00000478916.5:n.6681G>C
ENST00000536990.5:n.2881G>C
ENST00000539504.5:c.2509G>C ENSP00000441052.1:p.Gly837Arg
NM_033071.3:c.25900G>C NP_149062.1:p.Gly8634Arg
NM_182961.3:c.26044G>C NP_892006.3:p.Gly8682Arg
XM_006715407.1:c.26191G>C XP_006715470.1:p.Gly8731Arg
XM_006715408.1:c.26179G>C XP_006715471.1:p.Gly8727Arg
XM_006715409.1:c.26170G>C XP_006715472.1:p.Gly8724Arg
XM_006715410.1:c.26149G>C XP_006715473.1:p.Gly8717Arg
XM_006715411.1:c.26140G>C XP_006715474.1:p.Gly8714Arg
XM_006715412.1:c.26134G>C XP_006715475.1:p.Gly8712Arg
XM_006715413.1:c.26122G>C XP_006715476.1:p.Gly8708Arg
XM_006715414.1:c.26119G>C XP_006715477.1:p.Gly8707Arg
XM_006715415.1:c.26080G>C XP_006715478.1:p.Gly8694Arg
XM_006715416.1:c.26065G>C XP_006715479.1:p.Gly8689Arg
XM_006715417.1:c.26050G>C XP_006715480.1:p.Gly8684Arg
XM_006715420.1:c.26038G>C XP_006715483.1:p.Gly8680Arg
XM_006715421.1:c.26035G>C XP_006715484.1:p.Gly8679Arg
XM_006715422.1:c.26032G>C XP_006715485.1:p.Gly8678Arg
XM_006715423.1:c.26191G>C XP_006715486.1:p.Gly8731Arg
XM_006715424.1:c.26149G>C XP_006715487.1:p.Gly8717Arg
XM_006715425.1:c.26080G>C XP_006715488.1:p.Gly8694Arg
XM_011535641.1:c.26188G>C XP_011533943.1:p.Gly8730Arg
XM_011535642.1:c.26176G>C XP_011533944.1:p.Gly8726Arg
XM_011535643.1:c.26026G>C XP_011533945.1:p.Gly8676Arg
XM_011535644.1:c.24466G>C XP_011533946.1:p.Gly8156Arg
XM_011535645.1:c.23959G>C XP_011533947.1:p.Gly7987Arg
XM_011535647.1:c.19426G>C XP_011533949.1:p.Gly6476Arg
NM_001347701.1:c.2650G>C NP_001334630.1:p.Gly884Arg
NM_001347702.1:c.2578G>C NP_001334631.1:p.Gly860Arg
XM_006715408.2:c.26179G>C XP_006715471.1:p.Gly8727Arg
XM_006715410.2:c.26149G>C XP_006715473.1:p.Gly8717Arg
XM_006715412.2:c.26134G>C XP_006715475.1:p.Gly8712Arg
XM_006715413.2:c.26122G>C XP_006715476.1:p.Gly8708Arg
XM_006715415.2:c.26080G>C XP_006715478.1:p.Gly8694Arg
XM_006715416.2:c.26065G>C XP_006715479.1:p.Gly8689Arg
XM_006715417.2:c.26050G>C XP_006715480.1:p.Gly8684Arg
XM_006715420.2:c.26038G>C XP_006715483.1:p.Gly8680Arg
XM_006715421.2:c.26035G>C XP_006715484.1:p.Gly8679Arg
XM_006715423.2:c.26191G>C XP_006715486.1:p.Gly8731Arg
XM_006715424.2:c.26149G>C XP_006715487.1:p.Gly8717Arg
XM_006715425.2:c.26080G>C XP_006715488.1:p.Gly8694Arg
XM_011535641.2:c.26188G>C XP_011533943.1:p.Gly8730Arg
XM_011535642.2:c.26176G>C XP_011533944.1:p.Gly8726Arg
XM_011535645.2:c.23959G>C XP_011533947.1:p.Gly7987Arg
XM_017010608.1:c.26191G>C XP_016866097.1:p.Gly8731Arg
XM_017010609.1:c.26191G>C XP_016866098.1:p.Gly8731Arg
XM_017010610.1:c.26170G>C XP_016866099.1:p.Gly8724Arg
XM_017010611.2:c.26164G>C XP_016866100.1:p.Gly8722Arg
XM_017010612.1:c.26113G>C XP_016866101.1:p.Gly8705Arg
XM_017010613.1:c.26077G>C XP_016866102.1:p.Gly8693Arg
XM_017010614.1:c.26035G>C XP_016866103.1:p.Gly8679Arg
XM_017010615.1:c.25924G>C XP_016866104.1:p.Gly8642Arg
XM_017010616.1:c.26122G>C XP_016866105.1:p.Gly8708Arg
XM_017010617.1:c.26077G>C XP_016866106.1:p.Gly8693Arg
XM_017010618.1:c.26065G>C XP_016866107.1:p.Gly8689Arg
XM_017010619.1:c.24466G>C XP_016866108.1:p.Gly8156Arg
NM_182961.4:c.26044G>C MANE Select NP_892006.3:p.Gly8682Arg
NM_001347701.2:c.2650G>C NP_001334630.1:p.Gly884Arg
NM_001347702.2:c.2578G>C MANE Plus Clinical NP_001334631.1:p.Gly860Arg
NM_033071.5:c.25900G>C NP_149062.2:p.Gly8634Arg