Canonical Allele Identifier: CA366099179

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152534795C>A (hg19) ; chr6:g.152213660C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213660C>A , CM000668.2:g.152213660C>A	GRCh38
NC_000006.11:g.152534795C>A , CM000668.1:g.152534795C>A	GRCh37
NC_000006.10:g.152576488C>A	NCBI36
NG_012855.1:g.428740G>T
NG_012855.2:g.428740G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22446G>T MANE Select	ENSP00000356224.5:p.Glu7482Asp
ENST00000423061.6:c.22233G>T	ENSP00000396024.1:p.Glu7411Asp
ENST00000341594.9:c.21231G>T	ENSP00000341887.6:p.Glu7077Asp
ENST00000367251.7:c.1212G>T	ENSP00000356220.3:p.Glu404Asp
ENST00000367255.9:c.22446G>T	ENSP00000356224.5:p.Glu7482Asp
ENST00000367256.9:n.6138G>T
ENST00000367257.8:c.384G>T	ENSP00000356226.4:p.Glu128Asp
ENST00000409694.6:n.6030G>T
ENST00000423061.5:c.22233G>T	ENSP00000396024.1:p.Glu7411Asp
NM_033071.3:c.22233G>T	NP_149062.1:p.Glu7411Asp
NM_182961.3:c.22446G>T	NP_892006.3:p.Glu7482Asp
XM_006715407.1:c.22482G>T	XP_006715470.1:p.Glu7494Asp
XM_006715408.1:c.22470G>T	XP_006715471.1:p.Glu7490Asp
XM_006715409.1:c.22461G>T	XP_006715472.1:p.Glu7487Asp
XM_006715410.1:c.22482G>T	XP_006715473.1:p.Glu7494Asp
XM_006715411.1:c.22431G>T	XP_006715474.1:p.Glu7477Asp
XM_006715412.1:c.22467G>T	XP_006715475.1:p.Glu7489Asp
XM_006715413.1:c.22482G>T	XP_006715476.1:p.Glu7494Asp
XM_006715414.1:c.22410G>T	XP_006715477.1:p.Glu7470Asp
XM_006715415.1:c.22482G>T	XP_006715478.1:p.Glu7494Asp
XM_006715416.1:c.22467G>T	XP_006715479.1:p.Glu7489Asp
XM_006715417.1:c.22341G>T	XP_006715480.1:p.Glu7447Asp
XM_006715420.1:c.22329G>T	XP_006715483.1:p.Glu7443Asp
XM_006715421.1:c.22326G>T	XP_006715484.1:p.Glu7442Asp
XM_006715422.1:c.22323G>T	XP_006715485.1:p.Glu7441Asp
XM_006715423.1:c.22482G>T	XP_006715486.1:p.Glu7494Asp
XM_006715424.1:c.22482G>T	XP_006715487.1:p.Glu7494Asp
XM_006715425.1:c.22482G>T	XP_006715488.1:p.Glu7494Asp
XM_011535641.1:c.22479G>T	XP_011533943.1:p.Glu7493Asp
XM_011535642.1:c.22467G>T	XP_011533944.1:p.Glu7489Asp
XM_011535643.1:c.22317G>T	XP_011533945.1:p.Glu7439Asp
XM_011535644.1:c.20757G>T	XP_011533946.1:p.Glu6919Asp
XM_011535645.1:c.20250G>T	XP_011533947.1:p.Glu6750Asp
XM_011535647.1:c.15717G>T	XP_011533949.1:p.Glu5239Asp
XM_006715408.2:c.22470G>T	XP_006715471.1:p.Glu7490Asp
XM_006715410.2:c.22482G>T	XP_006715473.1:p.Glu7494Asp
XM_006715412.2:c.22467G>T	XP_006715475.1:p.Glu7489Asp
XM_006715413.2:c.22482G>T	XP_006715476.1:p.Glu7494Asp
XM_006715415.2:c.22482G>T	XP_006715478.1:p.Glu7494Asp
XM_006715416.2:c.22467G>T	XP_006715479.1:p.Glu7489Asp
XM_006715417.2:c.22341G>T	XP_006715480.1:p.Glu7447Asp
XM_006715420.2:c.22329G>T	XP_006715483.1:p.Glu7443Asp
XM_006715421.2:c.22326G>T	XP_006715484.1:p.Glu7442Asp
XM_006715423.2:c.22482G>T	XP_006715486.1:p.Glu7494Asp
XM_006715424.2:c.22482G>T	XP_006715487.1:p.Glu7494Asp
XM_006715425.2:c.22482G>T	XP_006715488.1:p.Glu7494Asp
XM_011535641.2:c.22479G>T	XP_011533943.1:p.Glu7493Asp
XM_011535642.2:c.22467G>T	XP_011533944.1:p.Glu7489Asp
XM_011535645.2:c.20250G>T	XP_011533947.1:p.Glu6750Asp
XM_017010608.1:c.22482G>T	XP_016866097.1:p.Glu7494Asp
XM_017010609.1:c.22482G>T	XP_016866098.1:p.Glu7494Asp
XM_017010610.1:c.22461G>T	XP_016866099.1:p.Glu7487Asp
XM_017010611.2:c.22455G>T	XP_016866100.1:p.Glu7485Asp
XM_017010612.1:c.22404G>T	XP_016866101.1:p.Glu7468Asp
XM_017010613.1:c.22479G>T	XP_016866102.1:p.Glu7493Asp
XM_017010614.1:c.22326G>T	XP_016866103.1:p.Glu7442Asp
XM_017010615.1:c.22326G>T	XP_016866104.1:p.Glu7442Asp
XM_017010616.1:c.22482G>T	XP_016866105.1:p.Glu7494Asp
XM_017010617.1:c.22479G>T	XP_016866106.1:p.Glu7493Asp
XM_017010618.1:c.22467G>T	XP_016866107.1:p.Glu7489Asp
XM_017010619.1:c.20757G>T	XP_016866108.1:p.Glu6919Asp
NM_182961.4:c.22446G>T MANE Select	NP_892006.3:p.Glu7482Asp
NM_033071.5:c.22233G>T	NP_149062.2:p.Glu7411Asp