Canonical Allele Identifier: CA366099243
Gene: SYNE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152213674T>C , CM000668.2:g.152213674T>C GRCh38
NC_000006.11:g.152534809T>C , CM000668.1:g.152534809T>C GRCh37
NC_000006.10:g.152576502T>C NCBI36
NG_012855.1:g.428726A>G
NG_012855.2:g.428726A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367255.10:c.22432A>G MANE Select ENSP00000356224.5:p.Lys7478Glu
ENST00000423061.6:c.22219A>G ENSP00000396024.1:p.Lys7407Glu
ENST00000341594.9:c.21217A>G ENSP00000341887.6:p.Lys7073Glu
ENST00000367251.7:c.1198A>G ENSP00000356220.3:p.Lys400Glu
ENST00000367255.9:c.22432A>G ENSP00000356224.5:p.Lys7478Glu
ENST00000367256.9:n.6124A>G
ENST00000367257.8:c.370A>G ENSP00000356226.4:p.Lys124Glu
ENST00000409694.6:n.6016A>G
ENST00000423061.5:c.22219A>G ENSP00000396024.1:p.Lys7407Glu
NM_033071.3:c.22219A>G NP_149062.1:p.Lys7407Glu
NM_182961.3:c.22432A>G NP_892006.3:p.Lys7478Glu
XM_006715407.1:c.22468A>G XP_006715470.1:p.Lys7490Glu
XM_006715408.1:c.22456A>G XP_006715471.1:p.Lys7486Glu
XM_006715409.1:c.22447A>G XP_006715472.1:p.Lys7483Glu
XM_006715410.1:c.22468A>G XP_006715473.1:p.Lys7490Glu
XM_006715411.1:c.22417A>G XP_006715474.1:p.Lys7473Glu
XM_006715412.1:c.22453A>G XP_006715475.1:p.Lys7485Glu
XM_006715413.1:c.22468A>G XP_006715476.1:p.Lys7490Glu
XM_006715414.1:c.22396A>G XP_006715477.1:p.Lys7466Glu
XM_006715415.1:c.22468A>G XP_006715478.1:p.Lys7490Glu
XM_006715416.1:c.22453A>G XP_006715479.1:p.Lys7485Glu
XM_006715417.1:c.22327A>G XP_006715480.1:p.Lys7443Glu
XM_006715420.1:c.22315A>G XP_006715483.1:p.Lys7439Glu
XM_006715421.1:c.22312A>G XP_006715484.1:p.Lys7438Glu
XM_006715422.1:c.22309A>G XP_006715485.1:p.Lys7437Glu
XM_006715423.1:c.22468A>G XP_006715486.1:p.Lys7490Glu
XM_006715424.1:c.22468A>G XP_006715487.1:p.Lys7490Glu
XM_006715425.1:c.22468A>G XP_006715488.1:p.Lys7490Glu
XM_011535641.1:c.22465A>G XP_011533943.1:p.Lys7489Glu
XM_011535642.1:c.22453A>G XP_011533944.1:p.Lys7485Glu
XM_011535643.1:c.22303A>G XP_011533945.1:p.Lys7435Glu
XM_011535644.1:c.20743A>G XP_011533946.1:p.Lys6915Glu
XM_011535645.1:c.20236A>G XP_011533947.1:p.Lys6746Glu
XM_011535647.1:c.15703A>G XP_011533949.1:p.Lys5235Glu
XM_006715408.2:c.22456A>G XP_006715471.1:p.Lys7486Glu
XM_006715410.2:c.22468A>G XP_006715473.1:p.Lys7490Glu
XM_006715412.2:c.22453A>G XP_006715475.1:p.Lys7485Glu
XM_006715413.2:c.22468A>G XP_006715476.1:p.Lys7490Glu
XM_006715415.2:c.22468A>G XP_006715478.1:p.Lys7490Glu
XM_006715416.2:c.22453A>G XP_006715479.1:p.Lys7485Glu
XM_006715417.2:c.22327A>G XP_006715480.1:p.Lys7443Glu
XM_006715420.2:c.22315A>G XP_006715483.1:p.Lys7439Glu
XM_006715421.2:c.22312A>G XP_006715484.1:p.Lys7438Glu
XM_006715423.2:c.22468A>G XP_006715486.1:p.Lys7490Glu
XM_006715424.2:c.22468A>G XP_006715487.1:p.Lys7490Glu
XM_006715425.2:c.22468A>G XP_006715488.1:p.Lys7490Glu
XM_011535641.2:c.22465A>G XP_011533943.1:p.Lys7489Glu
XM_011535642.2:c.22453A>G XP_011533944.1:p.Lys7485Glu
XM_011535645.2:c.20236A>G XP_011533947.1:p.Lys6746Glu
XM_017010608.1:c.22468A>G XP_016866097.1:p.Lys7490Glu
XM_017010609.1:c.22468A>G XP_016866098.1:p.Lys7490Glu
XM_017010610.1:c.22447A>G XP_016866099.1:p.Lys7483Glu
XM_017010611.2:c.22441A>G XP_016866100.1:p.Lys7481Glu
XM_017010612.1:c.22390A>G XP_016866101.1:p.Lys7464Glu
XM_017010613.1:c.22465A>G XP_016866102.1:p.Lys7489Glu
XM_017010614.1:c.22312A>G XP_016866103.1:p.Lys7438Glu
XM_017010615.1:c.22312A>G XP_016866104.1:p.Lys7438Glu
XM_017010616.1:c.22468A>G XP_016866105.1:p.Lys7490Glu
XM_017010617.1:c.22465A>G XP_016866106.1:p.Lys7489Glu
XM_017010618.1:c.22453A>G XP_016866107.1:p.Lys7485Glu
XM_017010619.1:c.20743A>G XP_016866108.1:p.Lys6915Glu
NM_182961.4:c.22432A>G MANE Select NP_892006.3:p.Lys7478Glu
NM_033071.5:c.22219A>G NP_149062.2:p.Lys7407Glu