Canonical Allele Identifier: CA366099441
Gene: SYNE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152213718T>G , CM000668.2:g.152213718T>G GRCh38
NC_000006.11:g.152534853T>G , CM000668.1:g.152534853T>G GRCh37
NC_000006.10:g.152576546T>G NCBI36
NG_012855.1:g.428682A>C
NG_012855.2:g.428682A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367255.10:c.22388A>C MANE Select ENSP00000356224.5:p.Glu7463Ala
ENST00000423061.6:c.22175A>C ENSP00000396024.1:p.Glu7392Ala
ENST00000341594.9:c.21173A>C ENSP00000341887.6:p.Glu7058Ala
ENST00000367251.7:c.1154A>C ENSP00000356220.3:p.Glu385Ala
ENST00000367255.9:c.22388A>C ENSP00000356224.5:p.Glu7463Ala
ENST00000367256.9:n.6080A>C
ENST00000367257.8:c.326A>C ENSP00000356226.4:p.Glu109Ala
ENST00000409694.6:n.5972A>C
ENST00000423061.5:c.22175A>C ENSP00000396024.1:p.Glu7392Ala
NM_033071.3:c.22175A>C NP_149062.1:p.Glu7392Ala
NM_182961.3:c.22388A>C NP_892006.3:p.Glu7463Ala
XM_006715407.1:c.22424A>C XP_006715470.1:p.Glu7475Ala
XM_006715408.1:c.22412A>C XP_006715471.1:p.Glu7471Ala
XM_006715409.1:c.22403A>C XP_006715472.1:p.Glu7468Ala
XM_006715410.1:c.22424A>C XP_006715473.1:p.Glu7475Ala
XM_006715411.1:c.22373A>C XP_006715474.1:p.Glu7458Ala
XM_006715412.1:c.22409A>C XP_006715475.1:p.Glu7470Ala
XM_006715413.1:c.22424A>C XP_006715476.1:p.Glu7475Ala
XM_006715414.1:c.22352A>C XP_006715477.1:p.Glu7451Ala
XM_006715415.1:c.22424A>C XP_006715478.1:p.Glu7475Ala
XM_006715416.1:c.22409A>C XP_006715479.1:p.Glu7470Ala
XM_006715417.1:c.22283A>C XP_006715480.1:p.Glu7428Ala
XM_006715420.1:c.22271A>C XP_006715483.1:p.Glu7424Ala
XM_006715421.1:c.22268A>C XP_006715484.1:p.Glu7423Ala
XM_006715422.1:c.22265A>C XP_006715485.1:p.Glu7422Ala
XM_006715423.1:c.22424A>C XP_006715486.1:p.Glu7475Ala
XM_006715424.1:c.22424A>C XP_006715487.1:p.Glu7475Ala
XM_006715425.1:c.22424A>C XP_006715488.1:p.Glu7475Ala
XM_011535641.1:c.22421A>C XP_011533943.1:p.Glu7474Ala
XM_011535642.1:c.22409A>C XP_011533944.1:p.Glu7470Ala
XM_011535643.1:c.22259A>C XP_011533945.1:p.Glu7420Ala
XM_011535644.1:c.20699A>C XP_011533946.1:p.Glu6900Ala
XM_011535645.1:c.20192A>C XP_011533947.1:p.Glu6731Ala
XM_011535647.1:c.15659A>C XP_011533949.1:p.Glu5220Ala
XM_006715408.2:c.22412A>C XP_006715471.1:p.Glu7471Ala
XM_006715410.2:c.22424A>C XP_006715473.1:p.Glu7475Ala
XM_006715412.2:c.22409A>C XP_006715475.1:p.Glu7470Ala
XM_006715413.2:c.22424A>C XP_006715476.1:p.Glu7475Ala
XM_006715415.2:c.22424A>C XP_006715478.1:p.Glu7475Ala
XM_006715416.2:c.22409A>C XP_006715479.1:p.Glu7470Ala
XM_006715417.2:c.22283A>C XP_006715480.1:p.Glu7428Ala
XM_006715420.2:c.22271A>C XP_006715483.1:p.Glu7424Ala
XM_006715421.2:c.22268A>C XP_006715484.1:p.Glu7423Ala
XM_006715423.2:c.22424A>C XP_006715486.1:p.Glu7475Ala
XM_006715424.2:c.22424A>C XP_006715487.1:p.Glu7475Ala
XM_006715425.2:c.22424A>C XP_006715488.1:p.Glu7475Ala
XM_011535641.2:c.22421A>C XP_011533943.1:p.Glu7474Ala
XM_011535642.2:c.22409A>C XP_011533944.1:p.Glu7470Ala
XM_011535645.2:c.20192A>C XP_011533947.1:p.Glu6731Ala
XM_017010608.1:c.22424A>C XP_016866097.1:p.Glu7475Ala
XM_017010609.1:c.22424A>C XP_016866098.1:p.Glu7475Ala
XM_017010610.1:c.22403A>C XP_016866099.1:p.Glu7468Ala
XM_017010611.2:c.22397A>C XP_016866100.1:p.Glu7466Ala
XM_017010612.1:c.22346A>C XP_016866101.1:p.Glu7449Ala
XM_017010613.1:c.22421A>C XP_016866102.1:p.Glu7474Ala
XM_017010614.1:c.22268A>C XP_016866103.1:p.Glu7423Ala
XM_017010615.1:c.22268A>C XP_016866104.1:p.Glu7423Ala
XM_017010616.1:c.22424A>C XP_016866105.1:p.Glu7475Ala
XM_017010617.1:c.22421A>C XP_016866106.1:p.Glu7474Ala
XM_017010618.1:c.22409A>C XP_016866107.1:p.Glu7470Ala
XM_017010619.1:c.20699A>C XP_016866108.1:p.Glu6900Ala
NM_182961.4:c.22388A>C MANE Select NP_892006.3:p.Glu7463Ala
NM_033071.5:c.22175A>C NP_149062.2:p.Glu7392Ala