Canonical Allele Identifier: CA366099281
Gene: SYNE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152213683T>C , CM000668.2:g.152213683T>C GRCh38
NC_000006.11:g.152534818T>C , CM000668.1:g.152534818T>C GRCh37
NC_000006.10:g.152576511T>C NCBI36
NG_012855.1:g.428717A>G
NG_012855.2:g.428717A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367255.10:c.22423A>G MANE Select ENSP00000356224.5:p.Thr7475Ala
ENST00000423061.6:c.22210A>G ENSP00000396024.1:p.Thr7404Ala
ENST00000341594.9:c.21208A>G ENSP00000341887.6:p.Thr7070Ala
ENST00000367251.7:c.1189A>G ENSP00000356220.3:p.Thr397Ala
ENST00000367255.9:c.22423A>G ENSP00000356224.5:p.Thr7475Ala
ENST00000367256.9:n.6115A>G
ENST00000367257.8:c.361A>G ENSP00000356226.4:p.Thr121Ala
ENST00000409694.6:n.6007A>G
ENST00000423061.5:c.22210A>G ENSP00000396024.1:p.Thr7404Ala
NM_033071.3:c.22210A>G NP_149062.1:p.Thr7404Ala
NM_182961.3:c.22423A>G NP_892006.3:p.Thr7475Ala
XM_006715407.1:c.22459A>G XP_006715470.1:p.Thr7487Ala
XM_006715408.1:c.22447A>G XP_006715471.1:p.Thr7483Ala
XM_006715409.1:c.22438A>G XP_006715472.1:p.Thr7480Ala
XM_006715410.1:c.22459A>G XP_006715473.1:p.Thr7487Ala
XM_006715411.1:c.22408A>G XP_006715474.1:p.Thr7470Ala
XM_006715412.1:c.22444A>G XP_006715475.1:p.Thr7482Ala
XM_006715413.1:c.22459A>G XP_006715476.1:p.Thr7487Ala
XM_006715414.1:c.22387A>G XP_006715477.1:p.Thr7463Ala
XM_006715415.1:c.22459A>G XP_006715478.1:p.Thr7487Ala
XM_006715416.1:c.22444A>G XP_006715479.1:p.Thr7482Ala
XM_006715417.1:c.22318A>G XP_006715480.1:p.Thr7440Ala
XM_006715420.1:c.22306A>G XP_006715483.1:p.Thr7436Ala
XM_006715421.1:c.22303A>G XP_006715484.1:p.Thr7435Ala
XM_006715422.1:c.22300A>G XP_006715485.1:p.Thr7434Ala
XM_006715423.1:c.22459A>G XP_006715486.1:p.Thr7487Ala
XM_006715424.1:c.22459A>G XP_006715487.1:p.Thr7487Ala
XM_006715425.1:c.22459A>G XP_006715488.1:p.Thr7487Ala
XM_011535641.1:c.22456A>G XP_011533943.1:p.Thr7486Ala
XM_011535642.1:c.22444A>G XP_011533944.1:p.Thr7482Ala
XM_011535643.1:c.22294A>G XP_011533945.1:p.Thr7432Ala
XM_011535644.1:c.20734A>G XP_011533946.1:p.Thr6912Ala
XM_011535645.1:c.20227A>G XP_011533947.1:p.Thr6743Ala
XM_011535647.1:c.15694A>G XP_011533949.1:p.Thr5232Ala
XM_006715408.2:c.22447A>G XP_006715471.1:p.Thr7483Ala
XM_006715410.2:c.22459A>G XP_006715473.1:p.Thr7487Ala
XM_006715412.2:c.22444A>G XP_006715475.1:p.Thr7482Ala
XM_006715413.2:c.22459A>G XP_006715476.1:p.Thr7487Ala
XM_006715415.2:c.22459A>G XP_006715478.1:p.Thr7487Ala
XM_006715416.2:c.22444A>G XP_006715479.1:p.Thr7482Ala
XM_006715417.2:c.22318A>G XP_006715480.1:p.Thr7440Ala
XM_006715420.2:c.22306A>G XP_006715483.1:p.Thr7436Ala
XM_006715421.2:c.22303A>G XP_006715484.1:p.Thr7435Ala
XM_006715423.2:c.22459A>G XP_006715486.1:p.Thr7487Ala
XM_006715424.2:c.22459A>G XP_006715487.1:p.Thr7487Ala
XM_006715425.2:c.22459A>G XP_006715488.1:p.Thr7487Ala
XM_011535641.2:c.22456A>G XP_011533943.1:p.Thr7486Ala
XM_011535642.2:c.22444A>G XP_011533944.1:p.Thr7482Ala
XM_011535645.2:c.20227A>G XP_011533947.1:p.Thr6743Ala
XM_017010608.1:c.22459A>G XP_016866097.1:p.Thr7487Ala
XM_017010609.1:c.22459A>G XP_016866098.1:p.Thr7487Ala
XM_017010610.1:c.22438A>G XP_016866099.1:p.Thr7480Ala
XM_017010611.2:c.22432A>G XP_016866100.1:p.Thr7478Ala
XM_017010612.1:c.22381A>G XP_016866101.1:p.Thr7461Ala
XM_017010613.1:c.22456A>G XP_016866102.1:p.Thr7486Ala
XM_017010614.1:c.22303A>G XP_016866103.1:p.Thr7435Ala
XM_017010615.1:c.22303A>G XP_016866104.1:p.Thr7435Ala
XM_017010616.1:c.22459A>G XP_016866105.1:p.Thr7487Ala
XM_017010617.1:c.22456A>G XP_016866106.1:p.Thr7486Ala
XM_017010618.1:c.22444A>G XP_016866107.1:p.Thr7482Ala
XM_017010619.1:c.20734A>G XP_016866108.1:p.Thr6912Ala
NM_182961.4:c.22423A>G MANE Select NP_892006.3:p.Thr7475Ala
NM_033071.5:c.22210A>G NP_149062.2:p.Thr7404Ala