Canonical Allele Identifier: CA366119434
Gene: SYNE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152352066C>G , CM000668.2:g.152352066C>G GRCh38
NC_000006.11:g.152673201C>G , CM000668.1:g.152673201C>G GRCh37
NC_000006.10:g.152714894C>G NCBI36
NG_012855.1:g.290334G>C
NG_012855.2:g.290334G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367255.10:c.11541G>C MANE Select ENSP00000356224.5:p.Met3847Ile
ENST00000423061.6:c.11496G>C ENSP00000396024.1:p.Met3832Ile
ENST00000341594.9:c.11301+102G>C ENSP00000341887.6:n.11301+102G>C
ENST00000367255.9:c.11541G>C ENSP00000356224.5:p.Met3847Ile
ENST00000423061.5:c.11496G>C ENSP00000396024.1:p.Met3832Ile
ENST00000471834.1:n.4679G>C
NM_033071.3:c.11496G>C NP_149062.1:p.Met3832Ile
NM_182961.3:c.11541G>C NP_892006.3:p.Met3847Ile
XM_006715407.1:c.11562G>C XP_006715470.1:p.Met3854Ile
XM_006715408.1:c.11562G>C XP_006715471.1:p.Met3854Ile
XM_006715409.1:c.11541G>C XP_006715472.1:p.Met3847Ile
XM_006715410.1:c.11562G>C XP_006715473.1:p.Met3854Ile
XM_006715411.1:c.11511G>C XP_006715474.1:p.Met3837Ile
XM_006715412.1:c.11562G>C XP_006715475.1:p.Met3854Ile
XM_006715413.1:c.11562G>C XP_006715476.1:p.Met3854Ile
XM_006715414.1:c.11490G>C XP_006715477.1:p.Met3830Ile
XM_006715415.1:c.11562G>C XP_006715478.1:p.Met3854Ile
XM_006715416.1:c.11562G>C XP_006715479.1:p.Met3854Ile
XM_006715417.1:c.11562G>C XP_006715480.1:p.Met3854Ile
XM_006715420.1:c.11562G>C XP_006715483.1:p.Met3854Ile
XM_006715421.1:c.11406G>C XP_006715484.1:p.Met3802Ile
XM_006715422.1:c.11403G>C XP_006715485.1:p.Met3801Ile
XM_006715423.1:c.11562G>C XP_006715486.1:p.Met3854Ile
XM_006715424.1:c.11562G>C XP_006715487.1:p.Met3854Ile
XM_006715425.1:c.11562G>C XP_006715488.1:p.Met3854Ile
XM_011535641.1:c.11562G>C XP_011533943.1:p.Met3854Ile
XM_011535642.1:c.11562G>C XP_011533944.1:p.Met3854Ile
XM_011535643.1:c.11397G>C XP_011533945.1:p.Met3799Ile
XM_011535644.1:c.9837G>C XP_011533946.1:p.Met3279Ile
XM_011535645.1:c.9330G>C XP_011533947.1:p.Met3110Ile
XM_011535646.1:c.11562G>C XP_011533948.1:p.Met3854Ile
XM_011535647.1:c.4797G>C XP_011533949.1:p.Met1599Ile
XM_006715408.2:c.11562G>C XP_006715471.1:p.Met3854Ile
XM_006715410.2:c.11562G>C XP_006715473.1:p.Met3854Ile
XM_006715412.2:c.11562G>C XP_006715475.1:p.Met3854Ile
XM_006715413.2:c.11562G>C XP_006715476.1:p.Met3854Ile
XM_006715415.2:c.11562G>C XP_006715478.1:p.Met3854Ile
XM_006715416.2:c.11562G>C XP_006715479.1:p.Met3854Ile
XM_006715417.2:c.11562G>C XP_006715480.1:p.Met3854Ile
XM_006715420.2:c.11562G>C XP_006715483.1:p.Met3854Ile
XM_006715421.2:c.11406G>C XP_006715484.1:p.Met3802Ile
XM_006715423.2:c.11562G>C XP_006715486.1:p.Met3854Ile
XM_006715424.2:c.11562G>C XP_006715487.1:p.Met3854Ile
XM_006715425.2:c.11562G>C XP_006715488.1:p.Met3854Ile
XM_011535641.2:c.11562G>C XP_011533943.1:p.Met3854Ile
XM_011535642.2:c.11562G>C XP_011533944.1:p.Met3854Ile
XM_011535645.2:c.9330G>C XP_011533947.1:p.Met3110Ile
XM_017010608.1:c.11562G>C XP_016866097.1:p.Met3854Ile
XM_017010609.1:c.11562G>C XP_016866098.1:p.Met3854Ile
XM_017010610.1:c.11541G>C XP_016866099.1:p.Met3847Ile
XM_017010611.2:c.11535G>C XP_016866100.1:p.Met3845Ile
XM_017010612.1:c.11484G>C XP_016866101.1:p.Met3828Ile
XM_017010613.1:c.11562G>C XP_016866102.1:p.Met3854Ile
XM_017010614.1:c.11562G>C XP_016866103.1:p.Met3854Ile
XM_017010615.1:c.11562G>C XP_016866104.1:p.Met3854Ile
XM_017010616.1:c.11562G>C XP_016866105.1:p.Met3854Ile
XM_017010617.1:c.11562G>C XP_016866106.1:p.Met3854Ile
XM_017010618.1:c.11562G>C XP_016866107.1:p.Met3854Ile
XM_017010619.1:c.9837G>C XP_016866108.1:p.Met3279Ile
XR_001743287.1:n.12045G>C
NM_182961.4:c.11541G>C MANE Select NP_892006.3:p.Met3847Ile
NM_033071.5:c.11496G>C NP_149062.2:p.Met3832Ile